Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Pkd1'

393073

Institutional Source

Beutler Lab

Gene Symbol

Pkd1

Ensembl Gene

ENSMUSG00000032855

Gene Name

polycystin 1, transient receptor poteintial channel interacting

Synonyms

PC-1, polycystin-1, PC1

MMRRC Submission

042709-MU

Accession Numbers

Ncbi RefSeq: NM_013630.2; MGI:97603

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5121 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24549834-24596508 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24573463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1375 (R1375C)

Ref Sequence

ENSEMBL: ENSMUSP00000049296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035565] [ENSMUST00000226883] [ENSMUST00000228745]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000035565
AA Change: R1375C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049296
Gene: ENSMUSG00000032855
AA Change: R1375C

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LRRNT	32	71	1.61e-8	SMART
LRR_TYP	90	113	2.47e-5	SMART
LRRCT	125	177	3.84e-12	SMART
WSC	177	271	6.93e-34	SMART
PKD	272	355	2.72e-15	SMART
CLECT	406	530	5.72e-20	SMART
low complexity region	545	558	N/A	INTRINSIC
low complexity region	763	788	N/A	INTRINSIC
PKD	930	1008	1.06e-8	SMART
PKD	1015	1119	2.26e-12	SMART
PKD	1122	1205	2.03e-14	SMART
PKD	1208	1288	1.14e-17	SMART
PKD	1290	1373	2.35e-10	SMART
PKD	1374	1459	7.63e-10	SMART
PKD	1464	1541	1.95e-16	SMART
PKD	1544	1625	1.05e-16	SMART
PKD	1631	1714	1.93e-1	SMART
PKD	1716	1798	2.21e-15	SMART
PKD	1799	1882	5.7e-9	SMART
PKD	1884	1964	1.56e-6	SMART
PKD	1968	2056	3.1e-10	SMART
PKD	2057	2140	1.74e-13	SMART
Pfam:REJ	2167	2610	1e-108	PFAM
low complexity region	2697	2706	N/A	INTRINSIC
GPS	3003	3052	1.33e-12	SMART
transmembrane domain	3065	3087	N/A	INTRINSIC
LH2	3110	3224	3.5e-18	SMART
transmembrane domain	3275	3294	N/A	INTRINSIC
transmembrane domain	3314	3336	N/A	INTRINSIC
low complexity region	3357	3378	N/A	INTRINSIC
low complexity region	3479	3492	N/A	INTRINSIC
transmembrane domain	3547	3569	N/A	INTRINSIC
low complexity region	3573	3591	N/A	INTRINSIC
low complexity region	3626	3639	N/A	INTRINSIC
low complexity region	3661	3676	N/A	INTRINSIC
Pfam:PKD_channel	3701	4103	7.1e-125	PFAM
low complexity region	4153	4172	N/A	INTRINSIC
low complexity region	4238	4256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226883

Predicted Effect

probably benign
Transcript: ENSMUST00000227107

Predicted Effect

probably benign
Transcript: ENSMUST00000228745

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

MGI Phenotype

Strain: Several; see below
Lethality: E13-E15
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life. [provided by MGI curators]

Allele List at MGI

All alleles(32) : Targeted(28) Gene trapped(3) Chemically induced(1)

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,281,650 (GRCm38)	I234T	probably damaging	Het
Adam24	A	G	8: 40,679,511 (GRCm38)	E6G	probably damaging	Het
Amz1	A	G	5: 140,744,164 (GRCm38)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,841,335 (GRCm38)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,532,864 (GRCm38)	N8T	probably benign	Het
Arsi	T	G	18: 60,917,439 (GRCm38)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,448,825 (GRCm38)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,104,351 (GRCm38)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,096,581 (GRCm38)	T77I	probably benign	Het
Camsap1	G	T	2: 25,935,550 (GRCm38)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,397,123 (GRCm38)		probably null	Het
Cd163	T	C	6: 124,317,989 (GRCm38)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,717,684 (GRCm38)		probably null	Het
Cfi	C	T	3: 129,873,077 (GRCm38)	P483L	probably damaging	Het
Chn2	C	T	6: 54,218,561 (GRCm38)	L72F	possibly damaging	Het
Cntn2	C	A	1: 132,517,060 (GRCm38)	E363*	probably null	Het
Crebbp	T	C	16: 4,093,511 (GRCm38)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,126,463 (GRCm38)	N900K	probably damaging	Het
Cts3	A	C	13: 61,567,595 (GRCm38)	I141M	probably benign	Het
Cwc27	A	T	13: 104,804,353 (GRCm38)	V166D	probably damaging	Het
Defb26	T	C	2: 152,508,165 (GRCm38)	E65G	possibly damaging	Het
Dnah8	A	G	17: 30,810,353 (GRCm38)	T4099A	probably benign	Het
Eml6	A	G	11: 29,744,606 (GRCm38)	F1953L	probably benign	Het
Etl4	T	A	2: 20,340,111 (GRCm38)		probably null	Het
Fbln1	A	G	15: 85,237,671 (GRCm38)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,572,203 (GRCm38)	H76Y	probably benign	Het
Gcat	T	C	15: 79,035,282 (GRCm38)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,722,100 (GRCm38)		probably null	Het
Gm572	T	C	4: 148,666,845 (GRCm38)		probably null	Het
Golgb1	T	C	16: 36,919,258 (GRCm38)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,646,144 (GRCm38)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,223,301 (GRCm38)	I533L	probably damaging	Het
Gypa	A	T	8: 80,496,348 (GRCm38)	Y27F	unknown	Het
Hipk4	G	A	7: 27,529,492 (GRCm38)	V456I	probably benign	Het
Homer2	A	T	7: 81,649,563 (GRCm38)	D51E	probably benign	Het
Hspa1b	A	T	17: 34,958,004 (GRCm38)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,912,534 (GRCm38)	T827A	probably benign	Het
Igkv1-35	T	C	6: 70,011,135 (GRCm38)	N58S	probably benign	Het
Kat6b	A	T	14: 21,619,258 (GRCm38)	H297L	probably damaging	Het
Kirrel3	G	T	9: 35,013,305 (GRCm38)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,230,625 (GRCm38)	V525A	probably benign	Het
Lrrn1	G	T	6: 107,569,207 (GRCm38)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,753,227 (GRCm38)	N256D	probably damaging	Het
Mill2	G	A	7: 18,856,666 (GRCm38)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,368 (GRCm38)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,389,596 (GRCm38)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,676,546 (GRCm38)	K415*	probably null	Het
Myb	T	A	10: 21,126,238 (GRCm38)	M616L	probably benign	Het
Myo15b	C	T	11: 115,886,054 (GRCm38)	R867W	probably damaging	Het
Myo18b	A	T	5: 112,874,480 (GRCm38)		probably benign	Het
Nip7	A	G	8: 107,056,957 (GRCm38)	E8G	possibly damaging	Het
Olfr1318	A	T	2: 112,156,286 (GRCm38)	M112L	possibly damaging	Het
Olfr368	T	G	2: 37,332,589 (GRCm38)	F281V	probably damaging	Het
Olfr38	T	A	6: 42,762,997 (GRCm38)	L315*	probably null	Het
Olfr677	A	G	7: 105,056,482 (GRCm38)	T79A	possibly damaging	Het
Olfr711	T	C	7: 106,972,231 (GRCm38)	I38V	probably benign	Het
Optn	T	A	2: 5,046,106 (GRCm38)	I155F	probably benign	Het
Papolb	A	T	5: 142,528,837 (GRCm38)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,838,627 (GRCm38)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,321,117 (GRCm38)	N183K	probably benign	Het
Pde12	G	T	14: 26,669,422 (GRCm38)	S44*	probably null	Het
Peg3	T	C	7: 6,710,289 (GRCm38)	K645E	probably benign	Het
Plekha5	G	A	6: 140,579,474 (GRCm38)	E21K	probably damaging	Het
Plk2	C	T	13: 110,399,424 (GRCm38)	P554L	probably benign	Het
Pnkp	C	T	7: 44,862,403 (GRCm38)	S113L	probably damaging	Het
Polg	A	T	7: 79,464,605 (GRCm38)	W203R	probably damaging	Het
Ppcdc	A	G	9: 57,421,163 (GRCm38)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,195,805 (GRCm38)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,370,095 (GRCm38)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,996,653 (GRCm38)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,636,043 (GRCm38)	H399Q	probably benign	Het
Psg25	T	A	7: 18,526,536 (GRCm38)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,960,429 (GRCm38)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,550,756 (GRCm38)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,399,566 (GRCm38)	F144S	probably damaging	Het
Rfwd3	A	C	8: 111,282,753 (GRCm38)		probably null	Het
Rhpn1	T	C	15: 75,709,260 (GRCm38)	I117T	probably damaging	Het
Sars2	A	T	7: 28,747,908 (GRCm38)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,902,887 (GRCm38)	H256L	probably benign	Het
Sgcz	G	A	8: 37,539,667 (GRCm38)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,379,257 (GRCm38)	H157Q	probably benign	Het
Spen	T	A	4: 141,476,099 (GRCm38)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm38)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,385,444 (GRCm38)	E1482G	possibly damaging	Het
Tex15	A	T	8: 33,571,766 (GRCm38)	K408I	probably damaging	Het
Tex33	C	T	15: 78,386,173 (GRCm38)	E132K	probably benign	Het
Trem1	T	A	17: 48,232,836 (GRCm38)	F14L	probably null	Het
Trim26	G	T	17: 36,851,066 (GRCm38)	E126*	probably null	Het
Trpv3	T	C	11: 73,277,834 (GRCm38)		probably null	Het
Ttn	T	A	2: 76,916,491 (GRCm38)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm38)	L301F	probably benign	Het
Uchl1	T	C	5: 66,676,437 (GRCm38)	M12T	probably benign	Het
Vill	C	T	9: 119,070,025 (GRCm38)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,355,753 (GRCm38)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,053,553 (GRCm38)	S21P	probably benign	Het
Wapl	A	G	14: 34,677,162 (GRCm38)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,126 (GRCm38)	K175E	possibly damaging	Het
Zfp592	T	C	7: 81,023,561 (GRCm38)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,932,507 (GRCm38)		probably null	Het
Zglp1	A	T	9: 21,062,661 (GRCm38)	I243N	probably benign	Het
Zranb1	A	G	7: 132,950,187 (GRCm38)	E215G	probably benign	Het

Other mutations in Pkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pkd1	APN	17	24,580,095 (GRCm38)	missense	probably damaging	1.00
IGL00503:Pkd1	APN	17	24,565,427 (GRCm38)	missense	probably benign
IGL00549:Pkd1	APN	17	24,572,761 (GRCm38)	missense	probably benign
IGL00573:Pkd1	APN	17	24,594,530 (GRCm38)	nonsense	probably null
IGL00924:Pkd1	APN	17	24,571,627 (GRCm38)	nonsense	probably null
IGL01319:Pkd1	APN	17	24,587,919 (GRCm38)	unclassified	probably benign
IGL01326:Pkd1	APN	17	24,576,174 (GRCm38)	nonsense	probably null
IGL01457:Pkd1	APN	17	24,594,821 (GRCm38)	splice site	probably null
IGL01541:Pkd1	APN	17	24,586,298 (GRCm38)	missense	probably damaging	1.00
IGL01575:Pkd1	APN	17	24,573,128 (GRCm38)	missense	probably damaging	1.00
IGL01606:Pkd1	APN	17	24,576,523 (GRCm38)	missense	probably damaging	0.97
IGL01642:Pkd1	APN	17	24,581,292 (GRCm38)	missense	probably damaging	1.00
IGL01888:Pkd1	APN	17	24,585,815 (GRCm38)	missense	possibly damaging	0.91
IGL01940:Pkd1	APN	17	24,579,746 (GRCm38)	missense	possibly damaging	0.63
IGL01958:Pkd1	APN	17	24,580,324 (GRCm38)	missense	probably damaging	1.00
IGL02005:Pkd1	APN	17	24,586,004 (GRCm38)	missense	possibly damaging	0.67
IGL02121:Pkd1	APN	17	24,575,927 (GRCm38)	missense	probably benign	0.03
IGL02148:Pkd1	APN	17	24,579,836 (GRCm38)	missense	probably damaging	1.00
IGL02409:Pkd1	APN	17	24,573,623 (GRCm38)	missense	probably benign	0.01
IGL02442:Pkd1	APN	17	24,565,226 (GRCm38)	missense	probably benign	0.41
IGL02498:Pkd1	APN	17	24,585,779 (GRCm38)	missense	possibly damaging	0.91
IGL02501:Pkd1	APN	17	24,569,699 (GRCm38)	missense	probably benign	0.01
IGL02551:Pkd1	APN	17	24,573,815 (GRCm38)	missense	probably damaging	1.00
IGL02635:Pkd1	APN	17	24,572,811 (GRCm38)	missense	probably damaging	1.00
IGL02673:Pkd1	APN	17	24,571,283 (GRCm38)	missense	probably benign	0.40
IGL02808:Pkd1	APN	17	24,593,504 (GRCm38)	missense	probably damaging	1.00
IGL02816:Pkd1	APN	17	24,594,515 (GRCm38)	missense	probably benign	0.00
IGL02863:Pkd1	APN	17	24,569,752 (GRCm38)	missense	possibly damaging	0.56
IGL02927:Pkd1	APN	17	24,575,189 (GRCm38)	missense	probably damaging	1.00
IGL02961:Pkd1	APN	17	24,578,115 (GRCm38)	missense	possibly damaging	0.81
IGL03003:Pkd1	APN	17	24,593,603 (GRCm38)	critical splice donor site	probably null
IGL03066:Pkd1	APN	17	24,586,234 (GRCm38)	missense	probably damaging	1.00
IGL03182:Pkd1	APN	17	24,573,818 (GRCm38)	missense	probably damaging	0.98
IGL03384:Pkd1	APN	17	24,565,897 (GRCm38)	missense	probably benign	0.00
IGL03404:Pkd1	APN	17	24,564,406 (GRCm38)	missense	probably damaging	0.97
PIT1430001:Pkd1	UTSW	17	24,569,511 (GRCm38)	missense	probably damaging	0.99
PIT4494001:Pkd1	UTSW	17	24,577,801 (GRCm38)	missense	probably damaging	1.00
PIT4677001:Pkd1	UTSW	17	24,574,029 (GRCm38)	missense	possibly damaging	0.94
R0017:Pkd1	UTSW	17	24,578,539 (GRCm38)	critical splice donor site	probably null
R0017:Pkd1	UTSW	17	24,578,539 (GRCm38)	critical splice donor site	probably null
R0022:Pkd1	UTSW	17	24,594,819 (GRCm38)	missense	probably damaging	0.98
R0022:Pkd1	UTSW	17	24,594,819 (GRCm38)	missense	probably damaging	0.98
R0058:Pkd1	UTSW	17	24,564,703 (GRCm38)	missense	probably benign	0.06
R0058:Pkd1	UTSW	17	24,564,703 (GRCm38)	missense	probably benign	0.06
R0085:Pkd1	UTSW	17	24,586,223 (GRCm38)	missense	probably damaging	0.98
R0094:Pkd1	UTSW	17	24,581,276 (GRCm38)	missense	possibly damaging	0.80
R0094:Pkd1	UTSW	17	24,581,276 (GRCm38)	missense	possibly damaging	0.80
R0135:Pkd1	UTSW	17	24,565,071 (GRCm38)	missense	possibly damaging	0.85
R0304:Pkd1	UTSW	17	24,585,946 (GRCm38)	missense	probably damaging	1.00
R0427:Pkd1	UTSW	17	24,593,502 (GRCm38)	missense	probably damaging	0.98
R0502:Pkd1	UTSW	17	24,574,792 (GRCm38)	missense	probably damaging	0.99
R0518:Pkd1	UTSW	17	24,595,219 (GRCm38)	missense	probably benign	0.01
R0521:Pkd1	UTSW	17	24,595,219 (GRCm38)	missense	probably benign	0.01
R0544:Pkd1	UTSW	17	24,585,683 (GRCm38)	missense	probably damaging	1.00
R0546:Pkd1	UTSW	17	24,580,138 (GRCm38)	missense	probably benign	0.44
R0626:Pkd1	UTSW	17	24,575,575 (GRCm38)	missense	probably damaging	0.96
R0648:Pkd1	UTSW	17	24,594,937 (GRCm38)	missense	probably damaging	1.00
R1138:Pkd1	UTSW	17	24,586,032 (GRCm38)	missense	probably damaging	1.00
R1302:Pkd1	UTSW	17	24,568,236 (GRCm38)	missense	probably benign	0.00
R1306:Pkd1	UTSW	17	24,573,172 (GRCm38)	missense	probably damaging	0.97
R1349:Pkd1	UTSW	17	24,575,266 (GRCm38)	missense	probably damaging	1.00
R1372:Pkd1	UTSW	17	24,575,266 (GRCm38)	missense	probably damaging	1.00
R1437:Pkd1	UTSW	17	24,595,132 (GRCm38)	missense	probably damaging	1.00
R1515:Pkd1	UTSW	17	24,594,853 (GRCm38)	missense	probably benign	0.01
R1605:Pkd1	UTSW	17	24,577,526 (GRCm38)	missense	possibly damaging	0.95
R1622:Pkd1	UTSW	17	24,581,640 (GRCm38)	missense	probably benign
R1623:Pkd1	UTSW	17	24,578,269 (GRCm38)	missense	probably damaging	0.99
R1726:Pkd1	UTSW	17	24,564,176 (GRCm38)	missense	probably damaging	0.96
R1756:Pkd1	UTSW	17	24,594,485 (GRCm38)	missense	probably damaging	1.00
R1780:Pkd1	UTSW	17	24,581,569 (GRCm38)	missense	probably benign
R1785:Pkd1	UTSW	17	24,591,099 (GRCm38)	missense	probably benign	0.00
R1829:Pkd1	UTSW	17	24,565,584 (GRCm38)	missense	probably benign
R1869:Pkd1	UTSW	17	24,594,931 (GRCm38)	missense	probably damaging	1.00
R1920:Pkd1	UTSW	17	24,595,157 (GRCm38)	missense	probably damaging	0.99
R1922:Pkd1	UTSW	17	24,595,157 (GRCm38)	missense	probably damaging	0.99
R1987:Pkd1	UTSW	17	24,576,592 (GRCm38)	splice site	probably null
R1988:Pkd1	UTSW	17	24,576,592 (GRCm38)	splice site	probably null
R1998:Pkd1	UTSW	17	24,573,014 (GRCm38)	missense	probably damaging	1.00
R2007:Pkd1	UTSW	17	24,579,785 (GRCm38)	missense	probably damaging	1.00
R2019:Pkd1	UTSW	17	24,568,684 (GRCm38)	nonsense	probably null
R2054:Pkd1	UTSW	17	24,574,796 (GRCm38)	missense	probably benign	0.00
R2061:Pkd1	UTSW	17	24,569,914 (GRCm38)	missense	possibly damaging	0.89
R2196:Pkd1	UTSW	17	24,580,072 (GRCm38)	missense	possibly damaging	0.60
R2203:Pkd1	UTSW	17	24,580,889 (GRCm38)	missense	probably benign	0.01
R2301:Pkd1	UTSW	17	24,574,612 (GRCm38)	missense	probably benign
R2655:Pkd1	UTSW	17	24,576,490 (GRCm38)	missense	probably damaging	0.99
R2860:Pkd1	UTSW	17	24,565,446 (GRCm38)	missense	probably benign	0.43
R2861:Pkd1	UTSW	17	24,565,446 (GRCm38)	missense	probably benign	0.43
R3000:Pkd1	UTSW	17	24,594,486 (GRCm38)	missense	probably damaging	1.00
R3150:Pkd1	UTSW	17	24,579,791 (GRCm38)	missense	probably benign	0.00
R3747:Pkd1	UTSW	17	24,591,461 (GRCm38)	missense	possibly damaging	0.67
R3812:Pkd1	UTSW	17	24,565,641 (GRCm38)	missense	probably benign	0.00
R3859:Pkd1	UTSW	17	24,578,092 (GRCm38)	splice site	probably benign
R3893:Pkd1	UTSW	17	24,572,110 (GRCm38)	critical splice donor site	probably null
R3947:Pkd1	UTSW	17	24,578,037 (GRCm38)	splice site	probably benign
R3949:Pkd1	UTSW	17	24,578,037 (GRCm38)	splice site	probably benign
R4176:Pkd1	UTSW	17	24,587,997 (GRCm38)	missense	probably benign	0.17
R4199:Pkd1	UTSW	17	24,570,030 (GRCm38)	missense	probably benign	0.41
R4225:Pkd1	UTSW	17	24,593,523 (GRCm38)	missense	possibly damaging	0.50
R4439:Pkd1	UTSW	17	24,585,692 (GRCm38)	missense	probably damaging	1.00
R4476:Pkd1	UTSW	17	24,576,526 (GRCm38)	missense	probably damaging	1.00
R4716:Pkd1	UTSW	17	24,576,133 (GRCm38)	missense	probably damaging	1.00
R4801:Pkd1	UTSW	17	24,578,096 (GRCm38)	missense	probably damaging	1.00
R4802:Pkd1	UTSW	17	24,578,096 (GRCm38)	missense	probably damaging	1.00
R4817:Pkd1	UTSW	17	24,565,374 (GRCm38)	splice site	probably null
R4903:Pkd1	UTSW	17	24,572,002 (GRCm38)	missense	probably benign	0.30
R4910:Pkd1	UTSW	17	24,572,687 (GRCm38)	missense	probably damaging	1.00
R4964:Pkd1	UTSW	17	24,586,068 (GRCm38)	critical splice donor site	probably null
R4966:Pkd1	UTSW	17	24,586,068 (GRCm38)	critical splice donor site	probably null
R5040:Pkd1	UTSW	17	24,571,260 (GRCm38)	missense	probably benign	0.02
R5042:Pkd1	UTSW	17	24,569,887 (GRCm38)	missense	probably benign	0.00
R5088:Pkd1	UTSW	17	24,590,838 (GRCm38)	missense	possibly damaging	0.94
R5296:Pkd1	UTSW	17	24,576,074 (GRCm38)	missense	probably damaging	1.00
R5338:Pkd1	UTSW	17	24,594,536 (GRCm38)	missense	probably benign
R5356:Pkd1	UTSW	17	24,593,577 (GRCm38)	missense	probably damaging	0.97
R5357:Pkd1	UTSW	17	24,565,790 (GRCm38)	missense	probably damaging	1.00
R5363:Pkd1	UTSW	17	24,565,073 (GRCm38)	missense	probably benign
R5383:Pkd1	UTSW	17	24,574,375 (GRCm38)	missense	probably benign
R5622:Pkd1	UTSW	17	24,574,040 (GRCm38)	missense	possibly damaging	0.67
R5651:Pkd1	UTSW	17	24,591,387 (GRCm38)	missense	possibly damaging	0.88
R5664:Pkd1	UTSW	17	24,569,371 (GRCm38)	missense	probably damaging	0.99
R5723:Pkd1	UTSW	17	24,565,523 (GRCm38)	missense	probably benign	0.01
R5797:Pkd1	UTSW	17	24,592,641 (GRCm38)	missense	possibly damaging	0.55
R5838:Pkd1	UTSW	17	24,580,212 (GRCm38)	missense	possibly damaging	0.75
R5866:Pkd1	UTSW	17	24,580,961 (GRCm38)	missense	probably damaging	0.99
R5873:Pkd1	UTSW	17	24,569,830 (GRCm38)	missense	probably benign
R5906:Pkd1	UTSW	17	24,572,920 (GRCm38)	missense	probably benign	0.16
R6047:Pkd1	UTSW	17	24,595,085 (GRCm38)	missense	probably damaging	1.00
R6076:Pkd1	UTSW	17	24,581,030 (GRCm38)	missense	probably benign	0.14
R6151:Pkd1	UTSW	17	24,575,606 (GRCm38)	missense	probably benign	0.00
R6252:Pkd1	UTSW	17	24,581,226 (GRCm38)	missense	probably damaging	0.98
R6341:Pkd1	UTSW	17	24,580,227 (GRCm38)	missense	probably damaging	1.00
R6540:Pkd1	UTSW	17	24,575,977 (GRCm38)	missense	probably damaging	1.00
R6732:Pkd1	UTSW	17	24,569,413 (GRCm38)	missense	probably damaging	1.00
R6836:Pkd1	UTSW	17	24,581,259 (GRCm38)	missense	probably damaging	1.00
R6856:Pkd1	UTSW	17	24,573,493 (GRCm38)	missense	probably benign	0.05
R6865:Pkd1	UTSW	17	24,576,487 (GRCm38)	missense	probably benign	0.43
R6999:Pkd1	UTSW	17	24,578,501 (GRCm38)	missense	possibly damaging	0.62
R7077:Pkd1	UTSW	17	24,591,119 (GRCm38)	missense	probably damaging	1.00
R7123:Pkd1	UTSW	17	24,594,768 (GRCm38)	missense	possibly damaging	0.89
R7134:Pkd1	UTSW	17	24,594,112 (GRCm38)	missense	probably damaging	0.99
R7210:Pkd1	UTSW	17	24,575,866 (GRCm38)	missense	probably damaging	0.98
R7323:Pkd1	UTSW	17	24,575,051 (GRCm38)	missense	probably benign	0.01
R7380:Pkd1	UTSW	17	24,581,642 (GRCm38)	missense	probably damaging	1.00
R7407:Pkd1	UTSW	17	24,594,594 (GRCm38)	missense	probably damaging	1.00
R7410:Pkd1	UTSW	17	24,575,881 (GRCm38)	missense	probably damaging	1.00
R7492:Pkd1	UTSW	17	24,569,741 (GRCm38)	missense	probably benign	0.04
R7517:Pkd1	UTSW	17	24,580,419 (GRCm38)	missense	probably damaging	1.00
R7543:Pkd1	UTSW	17	24,595,253 (GRCm38)	missense	probably damaging	0.99
R7560:Pkd1	UTSW	17	24,573,631 (GRCm38)	missense	probably benign	0.33
R7615:Pkd1	UTSW	17	24,593,502 (GRCm38)	missense	probably damaging	0.98
R7714:Pkd1	UTSW	17	24,550,276 (GRCm38)	missense	unknown
R7718:Pkd1	UTSW	17	24,586,500 (GRCm38)	missense	probably benign	0.15
R7731:Pkd1	UTSW	17	24,573,898 (GRCm38)	missense	probably damaging	1.00
R7849:Pkd1	UTSW	17	24,586,200 (GRCm38)	missense	probably damaging	0.98
R7859:Pkd1	UTSW	17	24,571,280 (GRCm38)	missense	probably damaging	1.00
R7866:Pkd1	UTSW	17	24,590,907 (GRCm38)	missense	probably benign	0.26
R7915:Pkd1	UTSW	17	24,592,656 (GRCm38)	nonsense	probably null
R7991:Pkd1	UTSW	17	24,572,621 (GRCm38)	missense	possibly damaging	0.95
R8050:Pkd1	UTSW	17	24,565,643 (GRCm38)	missense	probably benign	0.26
R8086:Pkd1	UTSW	17	24,581,214 (GRCm38)	missense	probably damaging	1.00
R8312:Pkd1	UTSW	17	24,567,128 (GRCm38)	missense	probably benign	0.02
R8385:Pkd1	UTSW	17	24,575,728 (GRCm38)	missense	possibly damaging	0.67
R8393:Pkd1	UTSW	17	24,572,647 (GRCm38)	missense	probably damaging	0.99
R8552:Pkd1	UTSW	17	24,591,469 (GRCm38)	missense	probably damaging	1.00
R8753:Pkd1	UTSW	17	24,574,202 (GRCm38)	missense	probably damaging	1.00
R8822:Pkd1	UTSW	17	24,565,641 (GRCm38)	missense	probably benign	0.00
R8855:Pkd1	UTSW	17	24,573,077 (GRCm38)	missense	probably damaging	1.00
R8866:Pkd1	UTSW	17	24,573,077 (GRCm38)	missense	probably damaging	1.00
R8867:Pkd1	UTSW	17	24,573,833 (GRCm38)	missense	probably damaging	1.00
R8960:Pkd1	UTSW	17	24,576,202 (GRCm38)	missense	probably damaging	1.00
R8966:Pkd1	UTSW	17	24,575,777 (GRCm38)	missense	possibly damaging	0.69
R9004:Pkd1	UTSW	17	24,580,447 (GRCm38)	missense	probably benign
R9015:Pkd1	UTSW	17	24,565,662 (GRCm38)	nonsense	probably null
R9069:Pkd1	UTSW	17	24,573,014 (GRCm38)	missense	probably damaging	1.00
R9092:Pkd1	UTSW	17	24,569,373 (GRCm38)	missense	possibly damaging	0.93
R9135:Pkd1	UTSW	17	24,572,002 (GRCm38)	missense
R9307:Pkd1	UTSW	17	24,550,477 (GRCm38)	missense	possibly damaging	0.90
R9312:Pkd1	UTSW	17	24,578,390 (GRCm38)	missense	probably damaging	1.00
R9313:Pkd1	UTSW	17	24,594,958 (GRCm38)	missense	probably damaging	1.00
R9380:Pkd1	UTSW	17	24,550,288 (GRCm38)	missense	unknown
R9383:Pkd1	UTSW	17	24,575,926 (GRCm38)	missense	probably damaging	1.00
R9531:Pkd1	UTSW	17	24,573,140 (GRCm38)	missense	probably damaging	0.99
R9617:Pkd1	UTSW	17	24,581,367 (GRCm38)	missense	probably damaging	1.00
R9691:Pkd1	UTSW	17	24,577,838 (GRCm38)	missense	possibly damaging	0.77
R9792:Pkd1	UTSW	17	24,581,198 (GRCm38)	missense	probably benign
R9793:Pkd1	UTSW	17	24,581,198 (GRCm38)	missense	probably benign
X0024:Pkd1	UTSW	17	24,591,392 (GRCm38)	missense	possibly damaging	0.68
X0061:Pkd1	UTSW	17	24,594,931 (GRCm38)	missense	probably damaging	1.00
X0065:Pkd1	UTSW	17	24,586,164 (GRCm38)	missense	probably benign	0.19
Z1088:Pkd1	UTSW	17	24,565,605 (GRCm38)	missense	probably benign	0.44
Z1177:Pkd1	UTSW	17	24,575,491 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGCTTATGGCCCATGTCACTG -3'
(R):5'- CTATCACCAAGTAGGAGCCTG -3'

Sequencing Primer
(F):5'- GCCCATGTCACTGGGGAC -3'
(R):5'- ACCAAGTAGGAGCCTGGTTCTC -3'

Posted On

2016-06-15