Mutagenetix > Incidental Mutation

Incidental Mutation 'R1691:Pkd1l2'

191796

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

MMRRC Submission

039724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116995679-117082449 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117056419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 721 (F721I)

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: F721I

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416
AA Change: F721I

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: F721I

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416
AA Change: F721I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,499,606	S283P	probably damaging	Het
Adck2	T	A	6: 39,574,968	L223*	probably null	Het
Ank	T	C	15: 27,590,944	W390R	probably damaging	Het
Ano5	T	C	7: 51,590,579	Y752H	probably damaging	Het
Apcs	T	A	1: 172,894,593	D62V	probably damaging	Het
Atad5	A	G	11: 80,095,532	T482A	probably benign	Het
Atp7b	A	G	8: 22,011,023	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,825,068		probably null	Het
Ccdc157	G	A	11: 4,149,030	P159S	probably benign	Het
Cdhr3	C	T	12: 33,082,247	V126M	probably damaging	Het
Cdr1	T	C	X: 61,184,174	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,344,729	V9A	probably benign	Het
Col19a1	T	C	1: 24,536,941	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038	H972Q	unknown	Het
Col3a1	T	A	1: 45,348,616		probably benign	Het
Dbnl	A	G	11: 5,797,174	S235G	probably null	Het
Dock4	T	A	12: 40,725,755	S566T	probably benign	Het
Efcab6	T	C	15: 83,933,206	D722G	probably benign	Het
Esyt1	T	C	10: 128,525,534	Q97R	probably benign	Het
Fam196a	C	T	7: 134,918,286	A172T	probably damaging	Het
Fat2	G	A	11: 55,311,852	T132I	probably damaging	Het
Fgd2	C	T	17: 29,378,944	Q618*	probably null	Het
Flnc	T	A	6: 29,441,214	V389E	probably benign	Het
Garnl3	A	T	2: 32,997,663	Y778*	probably null	Het
Gpaa1	A	T	15: 76,332,216	Y45F	probably damaging	Het
Grid1	A	T	14: 35,452,329	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,833,465	D133G	probably damaging	Het
Hp	T	C	8: 109,575,572	D248G	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ifna13	T	C	4: 88,644,054	D111G	probably benign	Het
Il9r	T	A	11: 32,191,829	Q309L	possibly damaging	Het
Ints1	A	T	5: 139,768,932	D617E	probably damaging	Het
Kcnj12	A	T	11: 61,070,277	N467I	possibly damaging	Het
Kmt2e	T	A	5: 23,464,849	D111E	probably damaging	Het
Lama4	A	G	10: 39,080,563	K1161E	probably benign	Het
Lamc1	C	T	1: 153,247,249	D732N	probably benign	Het
Larp1	A	G	11: 58,048,048	T517A	probably benign	Het
Lrp12	A	G	15: 39,872,265	I757T	probably damaging	Het
Max	T	C	12: 76,953,272	D23G	possibly damaging	Het
Nars	A	T	18: 64,516,414		probably null	Het
Nipsnap3a	G	A	4: 52,994,185	D91N	probably null	Het
Nphp3	A	G	9: 104,002,811	T11A	probably benign	Het
Nr2c2	C	A	6: 92,156,692	T226K	probably damaging	Het
Nrxn1	A	G	17: 90,162,289	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,375,537	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1281	G	A	2: 111,328,853	V145I	probably benign	Het
Olfr1505	C	T	19: 13,919,419	T133I	probably benign	Het
Olfr1508	A	T	14: 52,463,831	H59Q	possibly damaging	Het
Olfr214	A	G	6: 116,556,577	T51A	probably benign	Het
Olfr516	A	G	7: 108,845,141	Y290H	possibly damaging	Het
Olfr532	A	T	7: 140,418,942	L277Q	probably damaging	Het
Pcsk1	A	G	13: 75,132,225	D723G	possibly damaging	Het
Phrf1	C	A	7: 141,261,874	Y715*	probably null	Het
Pigm	T	C	1: 172,376,787	V30A	probably benign	Het
Pla2g15	A	G	8: 106,154,949	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,709,382	I182N	probably damaging	Het
Prss23	T	C	7: 89,510,714	K49R	probably benign	Het
Rps6	A	T	4: 86,856,809	D19E	probably benign	Het
Slco6d1	A	T	1: 98,507,567	H669L	probably benign	Het
Svil	G	T	18: 5,056,336	C490F	probably benign	Het
Tom1	T	C	8: 75,051,599	I103T	probably damaging	Het
Trim10	T	A	17: 36,876,899	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,840,699	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,428,687	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,424,132	I14L	probably benign	Het
Unc5a	A	C	13: 55,002,924	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,753,912	M1K	probably null	Het
Vmn2r58	C	T	7: 41,837,489	G661R	possibly damaging	Het
Vps41	A	C	13: 18,841,243	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489	F1818L	possibly damaging	Het
Zp3	G	A	5: 135,980,281	E50K	possibly damaging	Het

Other mutations in Pkd1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Pkd1l2	APN	8	117059520	nonsense	probably null
IGL01353:Pkd1l2	APN	8	117057443	missense	probably benign	0.24
IGL01362:Pkd1l2	APN	8	117021856	missense	probably damaging	1.00
IGL01486:Pkd1l2	APN	8	117059592	missense	probably benign
IGL01672:Pkd1l2	APN	8	117080732	missense	possibly damaging	0.94
IGL01696:Pkd1l2	APN	8	117056387	missense	probably benign	0.12
IGL01819:Pkd1l2	APN	8	116998174	missense	probably damaging	1.00
IGL01833:Pkd1l2	APN	8	117060525	missense	probably benign	0.00
IGL01981:Pkd1l2	APN	8	117016916	missense	probably benign	0.04
IGL02066:Pkd1l2	APN	8	117009564	splice site	probably benign
IGL02381:Pkd1l2	APN	8	117035800	splice site	probably benign
IGL02416:Pkd1l2	APN	8	117040835	missense	possibly damaging	0.82
IGL02736:Pkd1l2	APN	8	117040666	missense	probably benign	0.00
IGL02828:Pkd1l2	APN	8	117029559	missense	probably benign
IGL02861:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02862:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02883:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02884:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02894:Pkd1l2	APN	8	117013891	missense	probably damaging	0.97
IGL02900:Pkd1l2	APN	8	117024091	missense	probably benign	0.03
IGL02901:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02929:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02941:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02957:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL02969:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03028:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03059:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03065:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03066:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03083:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03084:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03124:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03162:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03165:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03335:Pkd1l2	APN	8	117065745	missense	probably benign	0.07
IGL03357:Pkd1l2	APN	8	116995809	missense	probably damaging	1.00
IGL02835:Pkd1l2	UTSW	8	117065745	missense	probably benign	0.07
PIT4453001:Pkd1l2	UTSW	8	117022022	missense	probably benign	0.00
R0127:Pkd1l2	UTSW	8	117050048	splice site	probably benign
R0309:Pkd1l2	UTSW	8	116997576	missense	probably damaging	0.99
R0365:Pkd1l2	UTSW	8	117021850	missense	probably benign	0.02
R0526:Pkd1l2	UTSW	8	117082260	missense	probably damaging	1.00
R0571:Pkd1l2	UTSW	8	117082218	missense	probably benign	0.01
R0716:Pkd1l2	UTSW	8	117051100	missense	probably damaging	1.00
R0787:Pkd1l2	UTSW	8	117076177	missense	possibly damaging	0.90
R0893:Pkd1l2	UTSW	8	117044492	missense	probably damaging	0.99
R1256:Pkd1l2	UTSW	8	117019543	critical splice acceptor site	probably null
R1391:Pkd1l2	UTSW	8	117054934	missense	possibly damaging	0.87
R1474:Pkd1l2	UTSW	8	117065497	splice site	probably benign
R1491:Pkd1l2	UTSW	8	117028408	missense	probably damaging	1.00
R1520:Pkd1l2	UTSW	8	117046159	missense	probably benign	0.00
R1521:Pkd1l2	UTSW	8	117065500	splice site	probably null
R1544:Pkd1l2	UTSW	8	117038235	frame shift	probably null
R1558:Pkd1l2	UTSW	8	117082252	missense	possibly damaging	0.94
R1673:Pkd1l2	UTSW	8	117040775	missense	probably benign	0.00
R1754:Pkd1l2	UTSW	8	117030719	missense	possibly damaging	0.81
R1857:Pkd1l2	UTSW	8	117040669	missense	possibly damaging	0.70
R1939:Pkd1l2	UTSW	8	117046182	nonsense	probably null
R1955:Pkd1l2	UTSW	8	117043361	missense	probably benign
R1957:Pkd1l2	UTSW	8	117030682	missense	probably damaging	1.00
R1959:Pkd1l2	UTSW	8	117043231	critical splice donor site	probably null
R2024:Pkd1l2	UTSW	8	117019533	missense	probably benign
R2046:Pkd1l2	UTSW	8	116999955	missense	probably damaging	1.00
R2102:Pkd1l2	UTSW	8	117081469	missense	probably damaging	0.98
R2116:Pkd1l2	UTSW	8	117030722	missense	possibly damaging	0.93
R2148:Pkd1l2	UTSW	8	117056325	missense	probably damaging	0.98
R2251:Pkd1l2	UTSW	8	117057438	missense	probably damaging	1.00
R2252:Pkd1l2	UTSW	8	117057438	missense	probably damaging	1.00
R2366:Pkd1l2	UTSW	8	117043317	missense	probably benign	0.01
R2566:Pkd1l2	UTSW	8	117019494	missense	probably damaging	1.00
R2872:Pkd1l2	UTSW	8	117038164	missense	probably benign	0.10
R2872:Pkd1l2	UTSW	8	117038164	missense	probably benign	0.10
R2985:Pkd1l2	UTSW	8	117065551	missense	probably benign	0.00
R3055:Pkd1l2	UTSW	8	117068315	critical splice acceptor site	probably null
R3436:Pkd1l2	UTSW	8	117040739	missense	probably benign	0.01
R4732:Pkd1l2	UTSW	8	116995842	critical splice acceptor site	probably null
R4733:Pkd1l2	UTSW	8	116995842	critical splice acceptor site	probably null
R4763:Pkd1l2	UTSW	8	117019429	missense	probably damaging	0.96
R4789:Pkd1l2	UTSW	8	117011575	missense	probably damaging	0.99
R4921:Pkd1l2	UTSW	8	117054885	missense	probably benign	0.03
R4921:Pkd1l2	UTSW	8	117072549	missense	probably damaging	0.97
R4999:Pkd1l2	UTSW	8	117047374	splice site	probably null
R5057:Pkd1l2	UTSW	8	117055008	missense	probably benign	0.21
R5209:Pkd1l2	UTSW	8	117056442	missense	probably benign	0.23
R5241:Pkd1l2	UTSW	8	117035118	missense	probably damaging	1.00
R5480:Pkd1l2	UTSW	8	117030649	missense	probably damaging	0.99
R5501:Pkd1l2	UTSW	8	117065830	missense	probably damaging	0.98
R5533:Pkd1l2	UTSW	8	117068116	missense	probably benign	0.03
R5582:Pkd1l2	UTSW	8	117040783	nonsense	probably null
R5610:Pkd1l2	UTSW	8	117042320	missense	probably benign	0.04
R5770:Pkd1l2	UTSW	8	117055018	missense	probably damaging	1.00
R5854:Pkd1l2	UTSW	8	117065746	missense	possibly damaging	0.48
R5867:Pkd1l2	UTSW	8	117055011	missense	probably damaging	0.96
R5881:Pkd1l2	UTSW	8	116997582	missense	probably damaging	0.99
R5906:Pkd1l2	UTSW	8	117029648	missense	probably damaging	1.00
R5909:Pkd1l2	UTSW	8	117024056	missense	probably benign	0.00
R6030:Pkd1l2	UTSW	8	117043237	missense	probably damaging	1.00
R6030:Pkd1l2	UTSW	8	117043237	missense	probably damaging	1.00
R6084:Pkd1l2	UTSW	8	117013987	missense	probably damaging	1.00
R6122:Pkd1l2	UTSW	8	117082368	missense	probably benign	0.02
R6216:Pkd1l2	UTSW	8	117081470	missense	probably damaging	1.00
R6406:Pkd1l2	UTSW	8	117035847	missense	probably damaging	0.99
R6417:Pkd1l2	UTSW	8	117013899	missense	probably damaging	1.00
R6420:Pkd1l2	UTSW	8	117013899	missense	probably damaging	1.00
R6601:Pkd1l2	UTSW	8	117040666	missense	probably benign	0.00
R6743:Pkd1l2	UTSW	8	117030631	missense	probably damaging	1.00
R7053:Pkd1l2	UTSW	8	117013942	missense	probably damaging	1.00
R7144:Pkd1l2	UTSW	8	117076131	nonsense	probably null
R7148:Pkd1l2	UTSW	8	117080786	missense	probably benign	0.00
R7169:Pkd1l2	UTSW	8	117040835	missense	possibly damaging	0.82
R7217:Pkd1l2	UTSW	8	116995797	missense	probably benign	0.24
R7310:Pkd1l2	UTSW	8	117024034	missense	probably benign
R7382:Pkd1l2	UTSW	8	117054871	missense	possibly damaging	0.95
R7397:Pkd1l2	UTSW	8	117035902	missense	possibly damaging	0.94
R7408:Pkd1l2	UTSW	8	117028479	missense	possibly damaging	0.77
R7437:Pkd1l2	UTSW	8	117030682	missense	probably damaging	0.96
R7492:Pkd1l2	UTSW	8	117068110	missense	probably damaging	1.00
R7496:Pkd1l2	UTSW	8	117060594	missense	possibly damaging	0.89
R7519:Pkd1l2	UTSW	8	117065529	missense	probably benign
R7590:Pkd1l2	UTSW	8	117080786	missense	probably benign	0.00
R7623:Pkd1l2	UTSW	8	117029645	missense	probably damaging	1.00
R7768:Pkd1l2	UTSW	8	117054860	critical splice donor site	probably null
R7897:Pkd1l2	UTSW	8	116998088	missense	possibly damaging	0.69
R7982:Pkd1l2	UTSW	8	117051187	missense	possibly damaging	0.70
R8024:Pkd1l2	UTSW	8	117076182	missense	possibly damaging	0.85
R8140:Pkd1l2	UTSW	8	117047497	missense	probably benign
R8145:Pkd1l2	UTSW	8	117055003	missense	probably benign
R8228:Pkd1l2	UTSW	8	117065775	missense	probably damaging	0.97
R8252:Pkd1l2	UTSW	8	117040733	missense	probably benign	0.29
R8500:Pkd1l2	UTSW	8	117047563	critical splice acceptor site	probably null
R8732:Pkd1l2	UTSW	8	117065572	missense	probably benign	0.28
R8809:Pkd1l2	UTSW	8	116999921	missense	probably damaging	1.00
R8896:Pkd1l2	UTSW	8	117013876	missense	possibly damaging	0.91
R8961:Pkd1l2	UTSW	8	116999978	missense	possibly damaging	0.52
R8985:Pkd1l2	UTSW	8	117038110	missense	probably benign	0.01
R9008:Pkd1l2	UTSW	8	117042298	missense	probably benign	0.32
R9091:Pkd1l2	UTSW	8	117032694	missense	probably damaging	1.00
R9138:Pkd1l2	UTSW	8	117055009	missense	probably benign	0.43
R9160:Pkd1l2	UTSW	8	117040669	missense	possibly damaging	0.70
R9249:Pkd1l2	UTSW	8	117019420	missense	probably damaging	0.99
R9270:Pkd1l2	UTSW	8	117032694	missense	probably damaging	1.00
R9735:Pkd1l2	UTSW	8	117046081	missense	possibly damaging	0.94
Z1176:Pkd1l2	UTSW	8	117054914	missense	probably damaging	1.00
Z1177:Pkd1l2	UTSW	8	117030691	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTCTGAGCACTGAGTAACCCTG -3'
(R):5'- AGGTCACTTTTCTGATGAGCTGCC -3'

Sequencing Primer
(F):5'- acagacatttacatcaccccag -3'
(R):5'- GAGCTGCCATTAACTCGTCAG -3'

Posted On

2014-05-14