Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03124:Pkd1l2'

410082

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

116995679-117082449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117065745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 436 (T436I)

Ref Sequence

ENSEMBL: ENSMUSP00000104721 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098375
AA Change: T436I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: T436I

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 benign
Transcript: ENSMUST00000109093
AA Change: T436I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: T436I

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

0.0717

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,507,287 (GRCm38)	N170D	possibly damaging	Het
1700018B08Rik	C	A	8: 121,541,710 (GRCm38)		probably benign	Het
4931414P19Rik	A	G	14: 54,595,139 (GRCm38)	V193A	probably benign	Het
Acap3	T	C	4: 155,905,033 (GRCm38)	S645P	probably benign	Het
Alms1	A	G	6: 85,678,419 (GRCm38)	I3316V	probably benign	Het
Apc	T	G	18: 34,299,985 (GRCm38)	H424Q	probably damaging	Het
BC003331	A	G	1: 150,386,425 (GRCm38)	V88A	probably benign	Het
Camsap2	A	T	1: 136,274,799 (GRCm38)		probably null	Het
Car13	C	T	3: 14,656,940 (GRCm38)	P182L	possibly damaging	Het
Ccdc87	T	G	19: 4,841,054 (GRCm38)	S525A	probably damaging	Het
Ces1f	T	C	8: 93,275,384 (GRCm38)	N39D	probably benign	Het
Cyp2j13	C	A	4: 96,061,922 (GRCm38)	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,685,812 (GRCm38)		probably null	Het
Fam208b	A	T	13: 3,574,704 (GRCm38)	Y1749N	probably benign	Het
Fat4	C	A	3: 38,981,552 (GRCm38)	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,200,171 (GRCm38)	V171M	probably damaging	Het
Hivep1	G	T	13: 42,158,904 (GRCm38)	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,421,638 (GRCm38)	D234G	unknown	Het
Igsf10	T	C	3: 59,319,665 (GRCm38)	T2196A	probably benign	Het
Kctd19	T	A	8: 105,387,070 (GRCm38)	Q657L	possibly damaging	Het
Klhl40	T	A	9: 121,780,685 (GRCm38)	I512N	probably damaging	Het
Lima1	A	T	15: 99,796,734 (GRCm38)		probably benign	Het
Map2k4	A	C	11: 65,690,791 (GRCm38)	I365S	probably damaging	Het
Mast4	T	A	13: 102,738,245 (GRCm38)	K1346N	probably damaging	Het
Met	T	A	6: 17,492,078 (GRCm38)	F280I	probably benign	Het
Ncapg	A	G	5: 45,671,209 (GRCm38)	T101A	probably benign	Het
Nup214	T	C	2: 31,996,440 (GRCm38)	F605L	probably benign	Het
Olfr291	T	A	7: 84,856,723 (GRCm38)	M118K	probably damaging	Het
Olfr639	G	T	7: 104,011,794 (GRCm38)	Q303K	probably benign	Het
Olfr873	T	A	9: 20,301,163 (GRCm38)	M322K	probably benign	Het
Pck2	C	T	14: 55,545,333 (GRCm38)	T373I	probably damaging	Het
Pcna	C	T	2: 132,251,753 (GRCm38)	E109K	probably benign	Het
Pecr	A	C	1: 72,277,340 (GRCm38)	S69A	probably benign	Het
Pitpnb	A	G	5: 111,330,830 (GRCm38)	E6G	possibly damaging	Het
Plbd2	A	T	5: 120,493,077 (GRCm38)	F212I	possibly damaging	Het
Rfk	T	A	19: 17,398,595 (GRCm38)	H84Q	possibly damaging	Het
Scp2	T	A	4: 108,063,906 (GRCm38)	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,580,735 (GRCm38)	T74A	probably damaging	Het
St6galnac1	G	A	11: 116,775,299 (GRCm38)	A35V	probably benign	Het
Tmem8	G	A	17: 26,116,834 (GRCm38)	R65Q	probably damaging	Het
Trav17	T	C	14: 53,806,649 (GRCm38)	V4A	probably benign	Het
Vmn1r57	A	T	7: 5,221,022 (GRCm38)	H182L	possibly damaging	Het
Vwa8	A	T	14: 79,058,815 (GRCm38)		probably benign	Het
Zgpat	A	G	2: 181,366,180 (GRCm38)	Y170C	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
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
R6216:Pkd1l2	UTSW	8	117,081,470 (GRCm38)	missense	probably damaging	1.00
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

Posted On

2016-08-02