Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Pkd2'

213530

Institutional Source

Beutler Lab

Gene Symbol

Pkd2

Ensembl Gene

ENSMUSG00000034462

Gene Name

polycystin 2, transient receptor potential cation channel

Synonyms

TRPP2, polycystin-2, C030034P18Rik, PC2

MMRRC Submission

039955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104607316-104653685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104626790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 324 (V324A)

Ref Sequence

ENSEMBL: ENSMUSP00000084041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086831]

AlphaFold

O35245

Predicted Effect

probably damaging
Transcript: ENSMUST00000086831
AA Change: V324A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084041
Gene: ENSMUSG00000034462
AA Change: V324A

Domain	Start	End	E-Value	Type
low complexity region	25	43	N/A	INTRINSIC
low complexity region	58	79	N/A	INTRINSIC
low complexity region	93	115	N/A	INTRINSIC
low complexity region	119	138	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
Pfam:PKD_channel	265	685	1.3e-171	PFAM
Pfam:Ion_trans	454	690	2.6e-25	PFAM
coiled coil region	765	794	N/A	INTRINSIC
PDB:3HRN\|A	834	893	8e-31	PDB
low complexity region	900	915	N/A	INTRINSIC
low complexity region	949	963	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130931

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

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 protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects in cardiac septation, kidney and pancreatic cysts, impaired left-right axis determination, and late-gestation lethality. Heterozygotes show kidney and liver lesions and have reduced longevity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Col3a1	C	T	1: 45,373,453 (GRCm39)		probably benign	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdlim5	C	A	3: 141,950,742 (GRCm39)	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,376,884 (GRCm39)	D742G	probably damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,805,030 (GRCm39)	*105W	probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Spata18	G	A	5: 73,834,307 (GRCm39)	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Top1	A	T	2: 160,512,042 (GRCm39)	K27N	unknown	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	possibly damaging	Het

Other mutations in Pkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Pkd2	APN	5	104,631,001 (GRCm39)	missense	probably damaging	1.00
IGL01527:Pkd2	APN	5	104,646,750 (GRCm39)	splice site	probably benign
IGL01805:Pkd2	APN	5	104,630,959 (GRCm39)	missense	probably benign	0.41
IGL02146:Pkd2	APN	5	104,637,157 (GRCm39)	missense	probably damaging	1.00
IGL02326:Pkd2	APN	5	104,624,941 (GRCm39)	missense	probably benign	0.38
IGL02481:Pkd2	APN	5	104,634,636 (GRCm39)	missense	probably damaging	1.00
IGL02952:Pkd2	APN	5	104,628,026 (GRCm39)	missense	possibly damaging	0.48
IGL03026:Pkd2	APN	5	104,642,753 (GRCm39)	splice site	probably benign
IGL03409:Pkd2	APN	5	104,637,215 (GRCm39)	nonsense	probably null
Nephro	UTSW	5	104,634,672 (GRCm39)	missense	probably damaging	1.00
reggae	UTSW	5	104,625,045 (GRCm39)	splice site	probably null
samba	UTSW	5	104,624,989 (GRCm39)	missense	probably benign	0.01
IGL02988:Pkd2	UTSW	5	104,651,471 (GRCm39)	nonsense	probably null
PIT1430001:Pkd2	UTSW	5	104,607,654 (GRCm39)	missense	probably damaging	0.99
R0020:Pkd2	UTSW	5	104,651,382 (GRCm39)	missense	probably damaging	1.00
R0020:Pkd2	UTSW	5	104,651,382 (GRCm39)	missense	probably damaging	1.00
R0045:Pkd2	UTSW	5	104,603,671 (GRCm39)	unclassified	probably benign
R0070:Pkd2	UTSW	5	104,614,856 (GRCm39)	missense	probably damaging	0.99
R0070:Pkd2	UTSW	5	104,614,856 (GRCm39)	missense	probably damaging	0.99
R0315:Pkd2	UTSW	5	104,607,716 (GRCm39)	missense	possibly damaging	0.94
R0316:Pkd2	UTSW	5	104,625,032 (GRCm39)	missense	probably damaging	1.00
R0570:Pkd2	UTSW	5	104,603,471 (GRCm39)	unclassified	probably benign
R1277:Pkd2	UTSW	5	104,650,225 (GRCm39)	missense	probably damaging	0.97
R1883:Pkd2	UTSW	5	104,631,094 (GRCm39)	missense	probably damaging	1.00
R1907:Pkd2	UTSW	5	104,634,672 (GRCm39)	missense	probably damaging	1.00
R2023:Pkd2	UTSW	5	104,614,744 (GRCm39)	splice site	probably null
R2080:Pkd2	UTSW	5	104,624,989 (GRCm39)	missense	probably benign	0.01
R2081:Pkd2	UTSW	5	104,608,077 (GRCm39)	missense	probably benign	0.00
R2098:Pkd2	UTSW	5	104,626,768 (GRCm39)	missense	probably damaging	1.00
R2117:Pkd2	UTSW	5	104,631,042 (GRCm39)	missense	probably damaging	1.00
R2146:Pkd2	UTSW	5	104,603,456 (GRCm39)	unclassified	probably benign
R2163:Pkd2	UTSW	5	104,603,543 (GRCm39)	unclassified	probably benign
R3401:Pkd2	UTSW	5	104,628,193 (GRCm39)	missense	possibly damaging	0.68
R3732:Pkd2	UTSW	5	104,637,285 (GRCm39)	splice site	probably null
R3733:Pkd2	UTSW	5	104,637,285 (GRCm39)	splice site	probably null
R4409:Pkd2	UTSW	5	104,614,750 (GRCm39)	splice site	silent
R4582:Pkd2	UTSW	5	104,650,210 (GRCm39)	nonsense	probably null
R5189:Pkd2	UTSW	5	104,607,785 (GRCm39)	missense	probably benign	0.22
R5191:Pkd2	UTSW	5	104,634,547 (GRCm39)	missense	probably benign	0.05
R5195:Pkd2	UTSW	5	104,634,547 (GRCm39)	missense	probably benign	0.05
R5198:Pkd2	UTSW	5	104,630,958 (GRCm39)	missense	probably benign	0.06
R5326:Pkd2	UTSW	5	104,634,515 (GRCm39)	splice site	silent
R5406:Pkd2	UTSW	5	104,628,198 (GRCm39)	missense	probably damaging	1.00
R5542:Pkd2	UTSW	5	104,634,515 (GRCm39)	splice site	silent
R5543:Pkd2	UTSW	5	104,637,199 (GRCm39)	missense	probably damaging	1.00
R5633:Pkd2	UTSW	5	104,646,372 (GRCm39)	missense	probably damaging	0.98
R5887:Pkd2	UTSW	5	104,646,405 (GRCm39)	missense	probably damaging	1.00
R5906:Pkd2	UTSW	5	104,625,045 (GRCm39)	splice site	probably null
R5924:Pkd2	UTSW	5	104,646,424 (GRCm39)	missense	probably damaging	0.99
R6361:Pkd2	UTSW	5	104,634,546 (GRCm39)	nonsense	probably null
R6455:Pkd2	UTSW	5	104,607,790 (GRCm39)	missense	probably benign	0.00
R6495:Pkd2	UTSW	5	104,637,159 (GRCm39)	missense	probably damaging	1.00
R6735:Pkd2	UTSW	5	104,628,195 (GRCm39)	missense	probably damaging	1.00
R6837:Pkd2	UTSW	5	104,624,909 (GRCm39)	missense	probably damaging	1.00
R7192:Pkd2	UTSW	5	104,634,523 (GRCm39)	missense	probably benign	0.00
R7477:Pkd2	UTSW	5	104,631,108 (GRCm39)	missense	probably benign	0.19
R7560:Pkd2	UTSW	5	104,628,219 (GRCm39)	missense	probably damaging	1.00
R7867:Pkd2	UTSW	5	104,630,986 (GRCm39)	missense	probably damaging	1.00
R7894:Pkd2	UTSW	5	104,628,103 (GRCm39)	missense	probably damaging	1.00
R8251:Pkd2	UTSW	5	104,646,353 (GRCm39)	missense	probably benign	0.01
R8360:Pkd2	UTSW	5	104,607,653 (GRCm39)	nonsense	probably null
R8368:Pkd2	UTSW	5	104,607,653 (GRCm39)	nonsense	probably null
R8526:Pkd2	UTSW	5	104,637,102 (GRCm39)	missense	probably damaging	1.00
R8751:Pkd2	UTSW	5	104,637,151 (GRCm39)	missense	probably damaging	1.00
R8956:Pkd2	UTSW	5	104,631,090 (GRCm39)	missense	probably damaging	1.00
R9101:Pkd2	UTSW	5	104,628,230 (GRCm39)	missense	probably damaging	1.00
R9271:Pkd2	UTSW	5	104,626,959 (GRCm39)	splice site	probably null
R9452:Pkd2	UTSW	5	104,614,841 (GRCm39)	missense	probably damaging	1.00
R9459:Pkd2	UTSW	5	104,614,800 (GRCm39)	missense	probably damaging	1.00
R9541:Pkd2	UTSW	5	104,607,927 (GRCm39)	missense	probably damaging	0.98
R9671:Pkd2	UTSW	5	104,637,256 (GRCm39)	missense	probably damaging	1.00
R9682:Pkd2	UTSW	5	104,626,790 (GRCm39)	missense	probably damaging	1.00
R9737:Pkd2	UTSW	5	104,651,349 (GRCm39)	missense	possibly damaging	0.92
Z1088:Pkd2	UTSW	5	104,646,727 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkd2	UTSW	5	104,607,915 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- GCCAGCCTGAGTTTGGAAAC -3'
(R):5'- TGTCACAGAGCCTACCATTCAG -3'

Sequencing Primer
(F):5'- ACTATCCAAAATCTTTCCTTGCAG -3'
(R):5'- ACAGAGCCTACCATTCAGTTGTCTG -3'

Posted On

2014-07-14