Mutagenetix > Incidental Mutation

Incidental Mutation 'R6216:Pkd1l2'

503721

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

MMRRC Submission

044349-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116995679-117082449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117081470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 105 (D105A)

Ref Sequence

ENSEMBL: ENSMUSP00000104721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098375] [ENSMUST00000109093]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000098375
AA Change: D105A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: D105A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CLECT	26	152	1.56e-21	SMART
Pfam:Gal_Lectin	168	250	1.8e-18	PFAM
PKD	260	341	3.84e-1	SMART
low complexity region	496	507	N/A	INTRINSIC
Pfam:REJ	510	886	1.8e-13	PFAM
low complexity region	1050	1060	N/A	INTRINSIC
GPS	1278	1327	1.61e-11	SMART
transmembrane domain	1346	1365	N/A	INTRINSIC
LH2	1390	1509	6.05e-13	SMART
transmembrane domain	1552	1574	N/A	INTRINSIC
transmembrane domain	1589	1611	N/A	INTRINSIC
transmembrane domain	1815	1837	N/A	INTRINSIC
transmembrane domain	1852	1874	N/A	INTRINSIC
transmembrane domain	1940	1962	N/A	INTRINSIC
Pfam:PKD_channel	1980	2403	6.4e-107	PFAM
Pfam:Ion_trans	2187	2396	2.5e-12	PFAM
low complexity region	2441	2458	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109093
AA Change: D105A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: D105A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
CLECT	26	152	1.56e-21	SMART
Pfam:Gal_Lectin	168	250	6.9e-19	PFAM
PKD	260	341	3.84e-1	SMART
low complexity region	496	507	N/A	INTRINSIC
Pfam:REJ	519	883	7e-11	PFAM
low complexity region	1051	1061	N/A	INTRINSIC
GPS	1279	1328	1.61e-11	SMART
transmembrane domain	1347	1366	N/A	INTRINSIC
LH2	1391	1510	6.05e-13	SMART
transmembrane domain	1553	1575	N/A	INTRINSIC
transmembrane domain	1590	1612	N/A	INTRINSIC
transmembrane domain	1816	1838	N/A	INTRINSIC
transmembrane domain	1853	1875	N/A	INTRINSIC
transmembrane domain	1941	1963	N/A	INTRINSIC
Pfam:PKD_channel	1981	2403	5.9e-106	PFAM
Pfam:Ion_trans	2138	2409	3.4e-12	PFAM
low complexity region	2442	2459	N/A	INTRINSIC

Meta Mutation Damage Score

0.2134

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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 contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores. This gene appears to be a polymorphic pseudogene in humans, where some individuals contain a non-functional allele. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,257,627 (GRCm38)	D488G	probably benign	Het
Adgrv1	C	A	13: 81,524,471 (GRCm38)		probably null	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Alkbh3	G	A	2: 94,008,536 (GRCm38)		probably benign	Het
Ankrd22	A	T	19: 34,124,169 (GRCm38)		probably null	Het
Anks1b	A	G	10: 90,260,756 (GRCm38)	D425G	probably damaging	Het
Arid2	A	G	15: 96,356,909 (GRCm38)	D212G	probably benign	Het
Bbx	A	T	16: 50,251,388 (GRCm38)	S225T	probably benign	Het
Bivm	T	A	1: 44,126,868 (GRCm38)		probably null	Het
Bpifb3	A	G	2: 153,925,853 (GRCm38)	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,378,819 (GRCm38)	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,224,971 (GRCm38)	S36*	probably null	Het
Ccser2	A	G	14: 36,940,508 (GRCm38)	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,471,996 (GRCm38)	S348T	probably benign	Het
Ddx49	C	T	8: 70,297,284 (GRCm38)	G161D	probably damaging	Het
Dhx16	A	G	17: 35,882,972 (GRCm38)	E353G	possibly damaging	Het
Etv2	A	G	7: 30,634,611 (GRCm38)		probably null	Het
Extl1	T	C	4: 134,363,130 (GRCm38)	T345A	probably benign	Het
Fam163a	A	T	1: 156,078,995 (GRCm38)	S137T	probably benign	Het
Fermt2	A	T	14: 45,459,881 (GRCm38)	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742 (GRCm38)	C388R	probably damaging	Het
Galnt18	A	C	7: 111,513,550 (GRCm38)	V470G	probably benign	Het
Grin2b	T	A	6: 135,772,399 (GRCm38)	I602F	probably damaging	Het
Gucy1b1	G	T	3: 82,046,713 (GRCm38)		probably null	Het
Hace1	T	C	10: 45,618,547 (GRCm38)	V151A	probably benign	Het
Hadhb	T	A	5: 30,174,931 (GRCm38)	D258E	probably benign	Het
Heatr1	C	T	13: 12,432,664 (GRCm38)	T1746I	probably benign	Het
Hrnr	T	C	3: 93,332,162 (GRCm38)	S3236P	unknown	Het
Kcnd1	G	C	X: 7,823,909 (GRCm38)	A23P	probably damaging	Homo
Kiz	C	A	2: 146,889,497 (GRCm38)	D302E	probably damaging	Het
Kng2	A	T	16: 22,987,593 (GRCm38)	W619R	probably damaging	Het
Mfap3l	C	A	8: 60,671,807 (GRCm38)	T361K	probably damaging	Het
Mlec	T	C	5: 115,150,317 (GRCm38)	H160R	probably benign	Het
Myo16	T	C	8: 10,315,494 (GRCm38)	L89P	probably benign	Het
Neb	T	C	2: 52,224,552 (GRCm38)	I4232V	probably benign	Het
Nf1	A	G	11: 79,411,607 (GRCm38)	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,318,383 (GRCm38)	F1942V	probably damaging	Het
Or2ag17	A	T	7: 106,790,458 (GRCm38)	I181N	probably benign	Het
Or4a70	C	A	2: 89,493,722 (GRCm38)	V197F	probably damaging	Het
Or4c11c	T	C	2: 88,831,311 (GRCm38)	S65P	probably damaging	Het
Or51a10	A	G	7: 104,049,695 (GRCm38)	Y220H	probably damaging	Het
Pabpc2	G	T	18: 39,774,719 (GRCm38)	A346S	probably damaging	Het
Paxip1	T	C	5: 27,766,173 (GRCm38)	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,731,928 (GRCm38)	T259S	probably benign	Het
Pfkp	A	T	13: 6,619,188 (GRCm38)	L253H	probably benign	Het
Piezo1	T	C	8: 122,489,130 (GRCm38)	D1428G	probably benign	Het
Pih1d3	A	T	1: 31,223,351 (GRCm38)	D138V	probably damaging	Het
Pou2f1	G	T	1: 165,880,320 (GRCm38)		probably benign	Het
Ppfia4	T	C	1: 134,329,183 (GRCm38)	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,524,022 (GRCm38)	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,471,413 (GRCm38)	I381N	probably damaging	Het
Ptx3	T	A	3: 66,224,844 (GRCm38)	V262E	probably damaging	Het
Rab21	A	T	10: 115,294,926 (GRCm38)	H158Q	probably benign	Het
Rasa2	A	G	9: 96,544,304 (GRCm38)	S830P	probably damaging	Het
Rdh1	G	A	10: 127,764,753 (GRCm38)	S215N	probably benign	Het
Rhot1	G	A	11: 80,251,059 (GRCm38)	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908 (GRCm38)		probably benign	Het
Sart3	C	T	5: 113,743,206 (GRCm38)	A938T	probably benign	Het
Selenom	A	T	11: 3,514,915 (GRCm38)		probably benign	Het
Selenop	T	C	15: 3,279,465 (GRCm38)	C300R	probably damaging	Het
Skint1	T	A	4: 112,021,482 (GRCm38)	S204T	probably benign	Het
Ss18l1	A	G	2: 180,061,913 (GRCm38)	N313S	unknown	Het
Sycp2l	A	G	13: 41,141,724 (GRCm38)	D289G	probably damaging	Het
Terf1	C	T	1: 15,818,997 (GRCm38)	H188Y	probably benign	Het
Tmem116	C	T	5: 121,491,108 (GRCm38)	T188M	probably benign	Het
Trdn	A	G	10: 33,305,069 (GRCm38)	T357A	probably damaging	Het
Trip11	A	C	12: 101,890,600 (GRCm38)	M401R	probably benign	Het
Ubald2	A	C	11: 116,434,385 (GRCm38)	D26A	probably benign	Het
Ube2w	C	G	1: 16,619,284 (GRCm38)		probably benign	Het
Vmn2r101	T	A	17: 19,591,005 (GRCm38)	S450R	probably benign	Het

Other mutations in Pkd1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Pkd1l2	APN	8	117,059,520 (GRCm38)	nonsense	probably null
IGL01353:Pkd1l2	APN	8	117,057,443 (GRCm38)	missense	probably benign	0.24
IGL01362:Pkd1l2	APN	8	117,021,856 (GRCm38)	missense	probably damaging	1.00
IGL01486:Pkd1l2	APN	8	117,059,592 (GRCm38)	missense	probably benign
IGL01672:Pkd1l2	APN	8	117,080,732 (GRCm38)	missense	possibly damaging	0.94
IGL01696:Pkd1l2	APN	8	117,056,387 (GRCm38)	missense	probably benign	0.12
IGL01819:Pkd1l2	APN	8	116,998,174 (GRCm38)	missense	probably damaging	1.00
IGL01833:Pkd1l2	APN	8	117,060,525 (GRCm38)	missense	probably benign	0.00
IGL01981:Pkd1l2	APN	8	117,016,916 (GRCm38)	missense	probably benign	0.04
IGL02066:Pkd1l2	APN	8	117,009,564 (GRCm38)	splice site	probably benign
IGL02381:Pkd1l2	APN	8	117,035,800 (GRCm38)	splice site	probably benign
IGL02416:Pkd1l2	APN	8	117,040,835 (GRCm38)	missense	possibly damaging	0.82
IGL02736:Pkd1l2	APN	8	117,040,666 (GRCm38)	missense	probably benign	0.00
IGL02828:Pkd1l2	APN	8	117,029,559 (GRCm38)	missense	probably benign
IGL02861:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02862:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02883:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02884:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02894:Pkd1l2	APN	8	117,013,891 (GRCm38)	missense	probably damaging	0.97
IGL02900:Pkd1l2	APN	8	117,024,091 (GRCm38)	missense	probably benign	0.03
IGL02901:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02929:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02941:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02957:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL02969:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03028:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03059:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03065:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03066:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03083:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03084:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03124:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03162:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03165:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03335:Pkd1l2	APN	8	117,065,745 (GRCm38)	missense	probably benign	0.07
IGL03357:Pkd1l2	APN	8	116,995,809 (GRCm38)	missense	probably damaging	1.00
IGL02835:Pkd1l2	UTSW	8	117,065,745 (GRCm38)	missense	probably benign	0.07
PIT4453001:Pkd1l2	UTSW	8	117,022,022 (GRCm38)	missense	probably benign	0.00
R0127:Pkd1l2	UTSW	8	117,050,048 (GRCm38)	splice site	probably benign
R0309:Pkd1l2	UTSW	8	116,997,576 (GRCm38)	missense	probably damaging	0.99
R0365:Pkd1l2	UTSW	8	117,021,850 (GRCm38)	missense	probably benign	0.02
R0526:Pkd1l2	UTSW	8	117,082,260 (GRCm38)	missense	probably damaging	1.00
R0571:Pkd1l2	UTSW	8	117,082,218 (GRCm38)	missense	probably benign	0.01
R0716:Pkd1l2	UTSW	8	117,051,100 (GRCm38)	missense	probably damaging	1.00
R0787:Pkd1l2	UTSW	8	117,076,177 (GRCm38)	missense	possibly damaging	0.90
R0893:Pkd1l2	UTSW	8	117,044,492 (GRCm38)	missense	probably damaging	0.99
R1256:Pkd1l2	UTSW	8	117,019,543 (GRCm38)	critical splice acceptor site	probably null
R1391:Pkd1l2	UTSW	8	117,054,934 (GRCm38)	missense	possibly damaging	0.87
R1474:Pkd1l2	UTSW	8	117,065,497 (GRCm38)	splice site	probably benign
R1491:Pkd1l2	UTSW	8	117,028,408 (GRCm38)	missense	probably damaging	1.00
R1520:Pkd1l2	UTSW	8	117,046,159 (GRCm38)	missense	probably benign	0.00
R1521:Pkd1l2	UTSW	8	117,065,500 (GRCm38)	splice site	probably null
R1544:Pkd1l2	UTSW	8	117,038,235 (GRCm38)	frame shift	probably null
R1558:Pkd1l2	UTSW	8	117,082,252 (GRCm38)	missense	possibly damaging	0.94
R1673:Pkd1l2	UTSW	8	117,040,775 (GRCm38)	missense	probably benign	0.00
R1691:Pkd1l2	UTSW	8	117,056,419 (GRCm38)	missense	possibly damaging	0.60
R1754:Pkd1l2	UTSW	8	117,030,719 (GRCm38)	missense	possibly damaging	0.81
R1857:Pkd1l2	UTSW	8	117,040,669 (GRCm38)	missense	possibly damaging	0.70
R1939:Pkd1l2	UTSW	8	117,046,182 (GRCm38)	nonsense	probably null
R1955:Pkd1l2	UTSW	8	117,043,361 (GRCm38)	missense	probably benign
R1957:Pkd1l2	UTSW	8	117,030,682 (GRCm38)	missense	probably damaging	1.00
R1959:Pkd1l2	UTSW	8	117,043,231 (GRCm38)	critical splice donor site	probably null
R2024:Pkd1l2	UTSW	8	117,019,533 (GRCm38)	missense	probably benign
R2046:Pkd1l2	UTSW	8	116,999,955 (GRCm38)	missense	probably damaging	1.00
R2102:Pkd1l2	UTSW	8	117,081,469 (GRCm38)	missense	probably damaging	0.98
R2116:Pkd1l2	UTSW	8	117,030,722 (GRCm38)	missense	possibly damaging	0.93
R2148:Pkd1l2	UTSW	8	117,056,325 (GRCm38)	missense	probably damaging	0.98
R2251:Pkd1l2	UTSW	8	117,057,438 (GRCm38)	missense	probably damaging	1.00
R2252:Pkd1l2	UTSW	8	117,057,438 (GRCm38)	missense	probably damaging	1.00
R2366:Pkd1l2	UTSW	8	117,043,317 (GRCm38)	missense	probably benign	0.01
R2566:Pkd1l2	UTSW	8	117,019,494 (GRCm38)	missense	probably damaging	1.00
R2872:Pkd1l2	UTSW	8	117,038,164 (GRCm38)	missense	probably benign	0.10
R2872:Pkd1l2	UTSW	8	117,038,164 (GRCm38)	missense	probably benign	0.10
R2985:Pkd1l2	UTSW	8	117,065,551 (GRCm38)	missense	probably benign	0.00
R3055:Pkd1l2	UTSW	8	117,068,315 (GRCm38)	critical splice acceptor site	probably null
R3436:Pkd1l2	UTSW	8	117,040,739 (GRCm38)	missense	probably benign	0.01
R4732:Pkd1l2	UTSW	8	116,995,842 (GRCm38)	critical splice acceptor site	probably null
R4733:Pkd1l2	UTSW	8	116,995,842 (GRCm38)	critical splice acceptor site	probably null
R4763:Pkd1l2	UTSW	8	117,019,429 (GRCm38)	missense	probably damaging	0.96
R4789:Pkd1l2	UTSW	8	117,011,575 (GRCm38)	missense	probably damaging	0.99
R4921:Pkd1l2	UTSW	8	117,054,885 (GRCm38)	missense	probably benign	0.03
R4921:Pkd1l2	UTSW	8	117,072,549 (GRCm38)	missense	probably damaging	0.97
R4999:Pkd1l2	UTSW	8	117,047,374 (GRCm38)	splice site	probably null
R5057:Pkd1l2	UTSW	8	117,055,008 (GRCm38)	missense	probably benign	0.21
R5209:Pkd1l2	UTSW	8	117,056,442 (GRCm38)	missense	probably benign	0.23
R5241:Pkd1l2	UTSW	8	117,035,118 (GRCm38)	missense	probably damaging	1.00
R5480:Pkd1l2	UTSW	8	117,030,649 (GRCm38)	missense	probably damaging	0.99
R5501:Pkd1l2	UTSW	8	117,065,830 (GRCm38)	missense	probably damaging	0.98
R5533:Pkd1l2	UTSW	8	117,068,116 (GRCm38)	missense	probably benign	0.03
R5582:Pkd1l2	UTSW	8	117,040,783 (GRCm38)	nonsense	probably null
R5610:Pkd1l2	UTSW	8	117,042,320 (GRCm38)	missense	probably benign	0.04
R5770:Pkd1l2	UTSW	8	117,055,018 (GRCm38)	missense	probably damaging	1.00
R5854:Pkd1l2	UTSW	8	117,065,746 (GRCm38)	missense	possibly damaging	0.48
R5867:Pkd1l2	UTSW	8	117,055,011 (GRCm38)	missense	probably damaging	0.96
R5881:Pkd1l2	UTSW	8	116,997,582 (GRCm38)	missense	probably damaging	0.99
R5906:Pkd1l2	UTSW	8	117,029,648 (GRCm38)	missense	probably damaging	1.00
R5909:Pkd1l2	UTSW	8	117,024,056 (GRCm38)	missense	probably benign	0.00
R6030:Pkd1l2	UTSW	8	117,043,237 (GRCm38)	missense	probably damaging	1.00
R6030:Pkd1l2	UTSW	8	117,043,237 (GRCm38)	missense	probably damaging	1.00
R6084:Pkd1l2	UTSW	8	117,013,987 (GRCm38)	missense	probably damaging	1.00
R6122:Pkd1l2	UTSW	8	117,082,368 (GRCm38)	missense	probably benign	0.02
R6406:Pkd1l2	UTSW	8	117,035,847 (GRCm38)	missense	probably damaging	0.99
R6417:Pkd1l2	UTSW	8	117,013,899 (GRCm38)	missense	probably damaging	1.00
R6420:Pkd1l2	UTSW	8	117,013,899 (GRCm38)	missense	probably damaging	1.00
R6601:Pkd1l2	UTSW	8	117,040,666 (GRCm38)	missense	probably benign	0.00
R6743:Pkd1l2	UTSW	8	117,030,631 (GRCm38)	missense	probably damaging	1.00
R7053:Pkd1l2	UTSW	8	117,013,942 (GRCm38)	missense	probably damaging	1.00
R7144:Pkd1l2	UTSW	8	117,076,131 (GRCm38)	nonsense	probably null
R7148:Pkd1l2	UTSW	8	117,080,786 (GRCm38)	missense	probably benign	0.00
R7169:Pkd1l2	UTSW	8	117,040,835 (GRCm38)	missense	possibly damaging	0.82
R7217:Pkd1l2	UTSW	8	116,995,797 (GRCm38)	missense	probably benign	0.24
R7310:Pkd1l2	UTSW	8	117,024,034 (GRCm38)	missense	probably benign
R7382:Pkd1l2	UTSW	8	117,054,871 (GRCm38)	missense	possibly damaging	0.95
R7397:Pkd1l2	UTSW	8	117,035,902 (GRCm38)	missense	possibly damaging	0.94
R7408:Pkd1l2	UTSW	8	117,028,479 (GRCm38)	missense	possibly damaging	0.77
R7437:Pkd1l2	UTSW	8	117,030,682 (GRCm38)	missense	probably damaging	0.96
R7492:Pkd1l2	UTSW	8	117,068,110 (GRCm38)	missense	probably damaging	1.00
R7496:Pkd1l2	UTSW	8	117,060,594 (GRCm38)	missense	possibly damaging	0.89
R7519:Pkd1l2	UTSW	8	117,065,529 (GRCm38)	missense	probably benign
R7590:Pkd1l2	UTSW	8	117,080,786 (GRCm38)	missense	probably benign	0.00
R7623:Pkd1l2	UTSW	8	117,029,645 (GRCm38)	missense	probably damaging	1.00
R7768:Pkd1l2	UTSW	8	117,054,860 (GRCm38)	critical splice donor site	probably null
R7897:Pkd1l2	UTSW	8	116,998,088 (GRCm38)	missense	possibly damaging	0.69
R7982:Pkd1l2	UTSW	8	117,051,187 (GRCm38)	missense	possibly damaging	0.70
R8024:Pkd1l2	UTSW	8	117,076,182 (GRCm38)	missense	possibly damaging	0.85
R8140:Pkd1l2	UTSW	8	117,047,497 (GRCm38)	missense	probably benign
R8145:Pkd1l2	UTSW	8	117,055,003 (GRCm38)	missense	probably benign
R8228:Pkd1l2	UTSW	8	117,065,775 (GRCm38)	missense	probably damaging	0.97
R8252:Pkd1l2	UTSW	8	117,040,733 (GRCm38)	missense	probably benign	0.29
R8500:Pkd1l2	UTSW	8	117,047,563 (GRCm38)	critical splice acceptor site	probably null
R8732:Pkd1l2	UTSW	8	117,065,572 (GRCm38)	missense	probably benign	0.28
R8809:Pkd1l2	UTSW	8	116,999,921 (GRCm38)	missense	probably damaging	1.00
R8896:Pkd1l2	UTSW	8	117,013,876 (GRCm38)	missense	possibly damaging	0.91
R8961:Pkd1l2	UTSW	8	116,999,978 (GRCm38)	missense	possibly damaging	0.52
R8985:Pkd1l2	UTSW	8	117,038,110 (GRCm38)	missense	probably benign	0.01
R9008:Pkd1l2	UTSW	8	117,042,298 (GRCm38)	missense	probably benign	0.32
R9091:Pkd1l2	UTSW	8	117,032,694 (GRCm38)	missense	probably damaging	1.00
R9138:Pkd1l2	UTSW	8	117,055,009 (GRCm38)	missense	probably benign	0.43
R9160:Pkd1l2	UTSW	8	117,040,669 (GRCm38)	missense	possibly damaging	0.70
R9249:Pkd1l2	UTSW	8	117,019,420 (GRCm38)	missense	probably damaging	0.99
R9270:Pkd1l2	UTSW	8	117,032,694 (GRCm38)	missense	probably damaging	1.00
R9735:Pkd1l2	UTSW	8	117,046,081 (GRCm38)	missense	possibly damaging	0.94
Z1176:Pkd1l2	UTSW	8	117,054,914 (GRCm38)	missense	probably damaging	1.00
Z1177:Pkd1l2	UTSW	8	117,030,691 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGTCTGCAGGCAAGGCAC -3'
(R):5'- TGAGGACACACCCATTCTCTG -3'

Sequencing Primer
(F):5'- AGGCAAGGCACCTGGAC -3'
(R):5'- ACACCCATTCTCTGGTGTGGG -3'

Posted On

2018-02-27