Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02416:Pkd1l2'

292462

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

1700126L06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02416

Quality Score

Status

Chromosome

Chromosomal Location

117722418-117809188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117767574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1239 (T1239S)

Ref Sequence

ENSEMBL: ENSMUSP00000104721 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098375
AA Change: T1238S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: T1238S

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

possibly damaging
Transcript: ENSMUST00000109093
AA Change: T1239S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: T1239S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153724

Coding Region Coverage

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 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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	C	14: 68,810,282 (GRCm39)	N227S	probably null	Het
Adgrf5	T	G	17: 43,755,871 (GRCm39)		probably null	Het
Arid2	G	A	15: 96,247,936 (GRCm39)	G116D	possibly damaging	Het
Arsa	T	A	15: 89,358,991 (GRCm39)	H225L	probably damaging	Het
Atf6	T	A	1: 170,574,726 (GRCm39)	K571*	probably null	Het
Bicdl1	A	C	5: 115,801,944 (GRCm39)	L38R	probably damaging	Het
Cct4	T	C	11: 22,952,868 (GRCm39)	S515P	probably damaging	Het
Celsr3	A	C	9: 108,709,318 (GRCm39)	D1388A	probably damaging	Het
Clca3a2	T	C	3: 144,790,777 (GRCm39)	T432A	probably benign	Het
Des	T	A	1: 75,339,372 (GRCm39)		probably null	Het
Dock11	T	A	X: 35,283,739 (GRCm39)	V1119E	probably damaging	Het
Dysf	A	G	6: 84,169,896 (GRCm39)	N1763S	possibly damaging	Het
Emilin1	A	G	5: 31,075,132 (GRCm39)	S458G	possibly damaging	Het
Fhdc1	T	G	3: 84,352,535 (GRCm39)	M897L	probably benign	Het
Foxj1	T	C	11: 116,222,829 (GRCm39)	S325G	probably benign	Het
Gm5407	A	G	16: 49,117,250 (GRCm39)		noncoding transcript	Het
Gm6576	T	C	15: 27,026,073 (GRCm39)		noncoding transcript	Het
Hells	G	A	19: 38,953,071 (GRCm39)	S743N	probably benign	Het
Ighv2-9-1	A	T	12: 113,733,731 (GRCm39)	L30Q	probably damaging	Het
Iqgap1	A	T	7: 80,375,786 (GRCm39)	L1363H	probably damaging	Het
Lrp2	T	C	2: 69,299,977 (GRCm39)	D3025G	probably damaging	Het
Mef2d	C	T	3: 88,063,809 (GRCm39)	R79C	probably damaging	Het
Mical1	G	T	10: 41,360,806 (GRCm39)		probably null	Het
Micu2	A	T	14: 58,161,422 (GRCm39)	V300E	probably damaging	Het
Mmgt2	T	C	11: 62,555,703 (GRCm39)	L17P	probably damaging	Het
Or4p21	A	G	2: 88,277,174 (GRCm39)	I36T	probably benign	Het
Or7c19	T	A	8: 85,957,662 (GRCm39)	C179*	probably null	Het
Or7e177	A	T	9: 20,211,541 (GRCm39)	E15V	probably benign	Het
Pigb	A	G	9: 72,924,714 (GRCm39)	S482P	probably benign	Het
Pou1f1	T	C	16: 65,328,842 (GRCm39)	I187T	probably damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rabgap1	T	C	2: 37,451,962 (GRCm39)	I954T	probably benign	Het
Scube3	T	G	17: 28,383,110 (GRCm39)	C429W	probably damaging	Het
Slco6b1	T	A	1: 96,852,058 (GRCm39)		noncoding transcript	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Tdrd6	T	A	17: 43,935,629 (GRCm39)	R1806S	probably benign	Het
Trpm8	T	A	1: 88,288,438 (GRCm39)	L860Q	probably damaging	Het
Vmn1r8	A	G	6: 57,013,605 (GRCm39)	R219G	probably damaging	Het
Wdr48	A	G	9: 119,753,826 (GRCm39)	S649G	probably damaging	Het

Other mutations in Pkd1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Pkd1l2	APN	8	117,786,259 (GRCm39)	nonsense	probably null
IGL01353:Pkd1l2	APN	8	117,784,182 (GRCm39)	missense	probably benign	0.24
IGL01362:Pkd1l2	APN	8	117,748,595 (GRCm39)	missense	probably damaging	1.00
IGL01486:Pkd1l2	APN	8	117,786,331 (GRCm39)	missense	probably benign
IGL01672:Pkd1l2	APN	8	117,807,471 (GRCm39)	missense	possibly damaging	0.94
IGL01696:Pkd1l2	APN	8	117,783,126 (GRCm39)	missense	probably benign	0.12
IGL01819:Pkd1l2	APN	8	117,724,913 (GRCm39)	missense	probably damaging	1.00
IGL01833:Pkd1l2	APN	8	117,787,264 (GRCm39)	missense	probably benign	0.00
IGL01981:Pkd1l2	APN	8	117,743,655 (GRCm39)	missense	probably benign	0.04
IGL02066:Pkd1l2	APN	8	117,736,303 (GRCm39)	splice site	probably benign
IGL02381:Pkd1l2	APN	8	117,762,539 (GRCm39)	splice site	probably benign
IGL02736:Pkd1l2	APN	8	117,767,405 (GRCm39)	missense	probably benign	0.00
IGL02828:Pkd1l2	APN	8	117,756,298 (GRCm39)	missense	probably benign
IGL02861:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02862:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02883:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02884:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02894:Pkd1l2	APN	8	117,740,630 (GRCm39)	missense	probably damaging	0.97
IGL02900:Pkd1l2	APN	8	117,750,830 (GRCm39)	missense	probably benign	0.03
IGL02901:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02929:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02941:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02957:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL02969:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03028:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03059:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03065:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03066:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03083:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03084:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03124:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03162:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03165:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03335:Pkd1l2	APN	8	117,792,484 (GRCm39)	missense	probably benign	0.07
IGL03357:Pkd1l2	APN	8	117,722,548 (GRCm39)	missense	probably damaging	1.00
IGL02835:Pkd1l2	UTSW	8	117,792,484 (GRCm39)	missense	probably benign	0.07
PIT4453001:Pkd1l2	UTSW	8	117,748,761 (GRCm39)	missense	probably benign	0.00
R0127:Pkd1l2	UTSW	8	117,776,787 (GRCm39)	splice site	probably benign
R0309:Pkd1l2	UTSW	8	117,724,315 (GRCm39)	missense	probably damaging	0.99
R0365:Pkd1l2	UTSW	8	117,748,589 (GRCm39)	missense	probably benign	0.02
R0526:Pkd1l2	UTSW	8	117,808,999 (GRCm39)	missense	probably damaging	1.00
R0571:Pkd1l2	UTSW	8	117,808,957 (GRCm39)	missense	probably benign	0.01
R0716:Pkd1l2	UTSW	8	117,777,839 (GRCm39)	missense	probably damaging	1.00
R0787:Pkd1l2	UTSW	8	117,802,916 (GRCm39)	missense	possibly damaging	0.90
R0893:Pkd1l2	UTSW	8	117,771,231 (GRCm39)	missense	probably damaging	0.99
R1256:Pkd1l2	UTSW	8	117,746,282 (GRCm39)	critical splice acceptor site	probably null
R1391:Pkd1l2	UTSW	8	117,781,673 (GRCm39)	missense	possibly damaging	0.87
R1474:Pkd1l2	UTSW	8	117,792,236 (GRCm39)	splice site	probably benign
R1491:Pkd1l2	UTSW	8	117,755,147 (GRCm39)	missense	probably damaging	1.00
R1520:Pkd1l2	UTSW	8	117,772,898 (GRCm39)	missense	probably benign	0.00
R1521:Pkd1l2	UTSW	8	117,792,239 (GRCm39)	splice site	probably null
R1544:Pkd1l2	UTSW	8	117,764,974 (GRCm39)	frame shift	probably null
R1558:Pkd1l2	UTSW	8	117,808,991 (GRCm39)	missense	possibly damaging	0.94
R1673:Pkd1l2	UTSW	8	117,767,514 (GRCm39)	missense	probably benign	0.00
R1691:Pkd1l2	UTSW	8	117,783,158 (GRCm39)	missense	possibly damaging	0.60
R1754:Pkd1l2	UTSW	8	117,757,458 (GRCm39)	missense	possibly damaging	0.81
R1857:Pkd1l2	UTSW	8	117,767,408 (GRCm39)	missense	possibly damaging	0.70
R1939:Pkd1l2	UTSW	8	117,772,921 (GRCm39)	nonsense	probably null
R1955:Pkd1l2	UTSW	8	117,770,100 (GRCm39)	missense	probably benign
R1957:Pkd1l2	UTSW	8	117,757,421 (GRCm39)	missense	probably damaging	1.00
R1959:Pkd1l2	UTSW	8	117,769,970 (GRCm39)	critical splice donor site	probably null
R2024:Pkd1l2	UTSW	8	117,746,272 (GRCm39)	missense	probably benign
R2046:Pkd1l2	UTSW	8	117,726,694 (GRCm39)	missense	probably damaging	1.00
R2102:Pkd1l2	UTSW	8	117,808,208 (GRCm39)	missense	probably damaging	0.98
R2116:Pkd1l2	UTSW	8	117,757,461 (GRCm39)	missense	possibly damaging	0.93
R2148:Pkd1l2	UTSW	8	117,783,064 (GRCm39)	missense	probably damaging	0.98
R2251:Pkd1l2	UTSW	8	117,784,177 (GRCm39)	missense	probably damaging	1.00
R2252:Pkd1l2	UTSW	8	117,784,177 (GRCm39)	missense	probably damaging	1.00
R2366:Pkd1l2	UTSW	8	117,770,056 (GRCm39)	missense	probably benign	0.01
R2566:Pkd1l2	UTSW	8	117,746,233 (GRCm39)	missense	probably damaging	1.00
R2872:Pkd1l2	UTSW	8	117,764,903 (GRCm39)	missense	probably benign	0.10
R2872:Pkd1l2	UTSW	8	117,764,903 (GRCm39)	missense	probably benign	0.10
R2985:Pkd1l2	UTSW	8	117,792,290 (GRCm39)	missense	probably benign	0.00
R3055:Pkd1l2	UTSW	8	117,795,054 (GRCm39)	critical splice acceptor site	probably null
R3436:Pkd1l2	UTSW	8	117,767,478 (GRCm39)	missense	probably benign	0.01
R4732:Pkd1l2	UTSW	8	117,722,581 (GRCm39)	critical splice acceptor site	probably null
R4733:Pkd1l2	UTSW	8	117,722,581 (GRCm39)	critical splice acceptor site	probably null
R4763:Pkd1l2	UTSW	8	117,746,168 (GRCm39)	missense	probably damaging	0.96
R4789:Pkd1l2	UTSW	8	117,738,314 (GRCm39)	missense	probably damaging	0.99
R4921:Pkd1l2	UTSW	8	117,781,624 (GRCm39)	missense	probably benign	0.03
R4921:Pkd1l2	UTSW	8	117,799,288 (GRCm39)	missense	probably damaging	0.97
R4999:Pkd1l2	UTSW	8	117,774,113 (GRCm39)	splice site	probably null
R5057:Pkd1l2	UTSW	8	117,781,747 (GRCm39)	missense	probably benign	0.21
R5209:Pkd1l2	UTSW	8	117,783,181 (GRCm39)	missense	probably benign	0.23
R5241:Pkd1l2	UTSW	8	117,761,857 (GRCm39)	missense	probably damaging	1.00
R5480:Pkd1l2	UTSW	8	117,757,388 (GRCm39)	missense	probably damaging	0.99
R5501:Pkd1l2	UTSW	8	117,792,569 (GRCm39)	missense	probably damaging	0.98
R5533:Pkd1l2	UTSW	8	117,794,855 (GRCm39)	missense	probably benign	0.03
R5582:Pkd1l2	UTSW	8	117,767,522 (GRCm39)	nonsense	probably null
R5610:Pkd1l2	UTSW	8	117,769,059 (GRCm39)	missense	probably benign	0.04
R5770:Pkd1l2	UTSW	8	117,781,757 (GRCm39)	missense	probably damaging	1.00
R5854:Pkd1l2	UTSW	8	117,792,485 (GRCm39)	missense	possibly damaging	0.48
R5867:Pkd1l2	UTSW	8	117,781,750 (GRCm39)	missense	probably damaging	0.96
R5881:Pkd1l2	UTSW	8	117,724,321 (GRCm39)	missense	probably damaging	0.99
R5906:Pkd1l2	UTSW	8	117,756,387 (GRCm39)	missense	probably damaging	1.00
R5909:Pkd1l2	UTSW	8	117,750,795 (GRCm39)	missense	probably benign	0.00
R6030:Pkd1l2	UTSW	8	117,769,976 (GRCm39)	missense	probably damaging	1.00
R6030:Pkd1l2	UTSW	8	117,769,976 (GRCm39)	missense	probably damaging	1.00
R6084:Pkd1l2	UTSW	8	117,740,726 (GRCm39)	missense	probably damaging	1.00
R6122:Pkd1l2	UTSW	8	117,809,107 (GRCm39)	missense	probably benign	0.02
R6216:Pkd1l2	UTSW	8	117,808,209 (GRCm39)	missense	probably damaging	1.00
R6406:Pkd1l2	UTSW	8	117,762,586 (GRCm39)	missense	probably damaging	0.99
R6417:Pkd1l2	UTSW	8	117,740,638 (GRCm39)	missense	probably damaging	1.00
R6420:Pkd1l2	UTSW	8	117,740,638 (GRCm39)	missense	probably damaging	1.00
R6601:Pkd1l2	UTSW	8	117,767,405 (GRCm39)	missense	probably benign	0.00
R6743:Pkd1l2	UTSW	8	117,757,370 (GRCm39)	missense	probably damaging	1.00
R7053:Pkd1l2	UTSW	8	117,740,681 (GRCm39)	missense	probably damaging	1.00
R7144:Pkd1l2	UTSW	8	117,802,870 (GRCm39)	nonsense	probably null
R7148:Pkd1l2	UTSW	8	117,807,525 (GRCm39)	missense	probably benign	0.00
R7169:Pkd1l2	UTSW	8	117,767,574 (GRCm39)	missense	possibly damaging	0.82
R7217:Pkd1l2	UTSW	8	117,722,536 (GRCm39)	missense	probably benign	0.24
R7310:Pkd1l2	UTSW	8	117,750,773 (GRCm39)	missense	probably benign
R7382:Pkd1l2	UTSW	8	117,781,610 (GRCm39)	missense	possibly damaging	0.95
R7397:Pkd1l2	UTSW	8	117,762,641 (GRCm39)	missense	possibly damaging	0.94
R7408:Pkd1l2	UTSW	8	117,755,218 (GRCm39)	missense	possibly damaging	0.77
R7437:Pkd1l2	UTSW	8	117,757,421 (GRCm39)	missense	probably damaging	0.96
R7492:Pkd1l2	UTSW	8	117,794,849 (GRCm39)	missense	probably damaging	1.00
R7496:Pkd1l2	UTSW	8	117,787,333 (GRCm39)	missense	possibly damaging	0.89
R7519:Pkd1l2	UTSW	8	117,792,268 (GRCm39)	missense	probably benign
R7590:Pkd1l2	UTSW	8	117,807,525 (GRCm39)	missense	probably benign	0.00
R7623:Pkd1l2	UTSW	8	117,756,384 (GRCm39)	missense	probably damaging	1.00
R7768:Pkd1l2	UTSW	8	117,781,599 (GRCm39)	critical splice donor site	probably null
R7897:Pkd1l2	UTSW	8	117,724,827 (GRCm39)	missense	possibly damaging	0.69
R7982:Pkd1l2	UTSW	8	117,777,926 (GRCm39)	missense	possibly damaging	0.70
R8024:Pkd1l2	UTSW	8	117,802,921 (GRCm39)	missense	possibly damaging	0.85
R8140:Pkd1l2	UTSW	8	117,774,236 (GRCm39)	missense	probably benign
R8145:Pkd1l2	UTSW	8	117,781,742 (GRCm39)	missense	probably benign
R8228:Pkd1l2	UTSW	8	117,792,514 (GRCm39)	missense	probably damaging	0.97
R8252:Pkd1l2	UTSW	8	117,767,472 (GRCm39)	missense	probably benign	0.29
R8500:Pkd1l2	UTSW	8	117,774,302 (GRCm39)	critical splice acceptor site	probably null
R8732:Pkd1l2	UTSW	8	117,792,311 (GRCm39)	missense	probably benign	0.28
R8809:Pkd1l2	UTSW	8	117,726,660 (GRCm39)	missense	probably damaging	1.00
R8896:Pkd1l2	UTSW	8	117,740,615 (GRCm39)	missense	possibly damaging	0.91
R8961:Pkd1l2	UTSW	8	117,726,717 (GRCm39)	missense	possibly damaging	0.52
R8985:Pkd1l2	UTSW	8	117,764,849 (GRCm39)	missense	probably benign	0.01
R9008:Pkd1l2	UTSW	8	117,769,037 (GRCm39)	missense	probably benign	0.32
R9091:Pkd1l2	UTSW	8	117,759,433 (GRCm39)	missense	probably damaging	1.00
R9138:Pkd1l2	UTSW	8	117,781,748 (GRCm39)	missense	probably benign	0.43
R9160:Pkd1l2	UTSW	8	117,767,408 (GRCm39)	missense	possibly damaging	0.70
R9249:Pkd1l2	UTSW	8	117,746,159 (GRCm39)	missense	probably damaging	0.99
R9270:Pkd1l2	UTSW	8	117,759,433 (GRCm39)	missense	probably damaging	1.00
R9735:Pkd1l2	UTSW	8	117,772,820 (GRCm39)	missense	possibly damaging	0.94
Z1176:Pkd1l2	UTSW	8	117,781,653 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkd1l2	UTSW	8	117,757,430 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16