Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Pkd1l2'

21458

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l2

Ensembl Gene

ENSMUSG00000034416

Gene Name

polycystic kidney disease 1 like 2

Synonyms

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116995679-117082449 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 117050048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000095977
Gene: ENSMUSG00000034416

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

SMART Domains

Protein: ENSMUSP00000104721
Gene: ENSMUSG00000034416

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,454	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155	I1351V	probably benign	Het
Acap1	A	T	11: 69,887,217		probably benign	Het
Als2cl	T	C	9: 110,891,867	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,456,235	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,103,460	N262K	probably damaging	Het
Baz1a	T	A	12: 54,898,706	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,895,029	D371E	probably benign	Het
Bphl	A	G	13: 34,064,046		probably benign	Het
Caskin2	C	A	11: 115,800,994	R988S	probably damaging	Het
Cbr1	C	A	16: 93,609,987	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,935,740	E1213G	possibly damaging	Het
Ccna1	A	G	3: 55,049,748	F83L	probably damaging	Het
Cep290	T	A	10: 100,536,925		probably benign	Het
Cep89	C	A	7: 35,428,262	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,781,670	M45V	probably benign	Het
Col16a1	T	A	4: 130,052,857	V91E	probably damaging	Het
Csmd3	T	C	15: 47,981,930	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,577,208		probably benign	Het
Dao	T	A	5: 114,019,963	H215Q	probably damaging	Het
Dido1	T	C	2: 180,671,824	D885G	probably benign	Het
Dlx4	T	G	11: 95,141,229	M240L	probably benign	Het
Dnah5	C	T	15: 28,294,925	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,038,734		probably benign	Het
Dock5	A	T	14: 67,846,042	D139E	probably benign	Het
Fam234b	T	C	6: 135,218,823		probably benign	Het
Fat2	T	C	11: 55,289,286	T1410A	probably benign	Het
Fsip2	T	A	2: 82,984,925	N3667K	probably benign	Het
Gm14085	T	A	2: 122,517,069		probably null	Het
Gm5114	T	C	7: 39,408,456	I580V	probably benign	Het
Hapln1	A	T	13: 89,607,869	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,925,405	V694A	probably benign	Het
Hps1	A	G	19: 42,771,111		probably benign	Het
Igsf9b	G	T	9: 27,334,385	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,569,070	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,786,465	M1V	probably null	Het
Krit1	A	G	5: 3,822,178	E401G	probably damaging	Het
Lamp1	T	C	8: 13,174,491	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,114,591	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,804,175	I25V	probably benign	Het
Mep1a	A	G	17: 43,497,886		probably benign	Het
Mgea5	A	T	19: 45,771,888	I277N	probably damaging	Het
Mkrn1	A	G	6: 39,399,275	W466R	probably benign	Het
Muc2	C	A	7: 141,748,954	F11L	probably benign	Het
Nebl	T	A	2: 17,392,983	M501L	probably benign	Het
Olfr1151	A	G	2: 87,857,483	I103V	probably benign	Het
Olfr1179	A	G	2: 88,402,355	V193A	probably benign	Het
Olfr744	A	G	14: 50,618,332	I37V	probably benign	Het
Olfr951	A	G	9: 39,393,942	I50M	probably benign	Het
Pkhd1l1	A	G	15: 44,554,605	M2886V	probably damaging	Het
Pop5	T	A	5: 115,240,171	L58H	probably damaging	Het
Prkch	C	A	12: 73,721,787	H444N	possibly damaging	Het
Reln	T	C	5: 22,004,136	D1148G	probably damaging	Het
Rffl	G	A	11: 82,812,632	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,670,569	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,989,944	R101H	probably benign	Het
Rtf1	G	A	2: 119,726,743	R443H	probably damaging	Het
Serac1	G	T	17: 6,048,840	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,219,762	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,855,986	W456R	probably damaging	Het
Slc35f5	C	T	1: 125,576,205	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,553,117	R167Q	probably benign	Het
Spag4	T	C	2: 156,068,042	V302A	probably damaging	Het
Spire2	A	C	8: 123,358,097		probably benign	Het
Sptbn2	G	T	19: 4,724,744	V142L	probably damaging	Het
Syt17	T	A	7: 118,409,941	D352V	probably damaging	Het
Tarsl2	A	T	7: 65,664,969	D425V	probably benign	Het
Tctex1d1	T	C	4: 103,002,452		probably benign	Het
Thsd7a	A	G	6: 12,554,908	S326P	probably benign	Het
Tnpo2	T	C	8: 85,040,628	S64P	probably damaging	Het
Tonsl	G	T	15: 76,633,485	A678D	probably benign	Het
Trim12c	A	G	7: 104,340,906		probably null	Het
Tsc22d1	A	G	14: 76,418,981	T885A	possibly damaging	Het
Ttn	T	C	2: 76,742,198	D26117G	probably damaging	Het
Ttn	T	A	2: 76,877,011		probably benign	Het
Ugt3a1	T	C	15: 9,306,256	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,455,703	N170S	probably damaging	Het
Vrk2	G	T	11: 26,534,313		probably benign	Het
Wt1	C	A	2: 105,133,457	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,411,815	A368V	probably benign	Het
Zc3h13	A	T	14: 75,323,254	D428V	unknown	Het
Zcchc8	C	G	5: 123,707,337	G320A	probably damaging	Het
Znfx1	T	C	2: 167,044,210	E810G	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
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
R1691:Pkd1l2	UTSW	8	117056419	missense	possibly damaging	0.60
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'- CCCAGGACAGTGCCATAATTGAGAG -3'
(R):5'- TGGTCACTGGTTTCAAAGGTGCAG -3'

Sequencing Primer
(F):5'- GACAGTGCCATAATTGAGAGACTTC -3'
(R):5'- gcagatgtgggtttcttttgg -3'

Posted On

2013-04-11