Mutagenetix > Incidental Mutation

Incidental Mutation 'R2431:Pkd1l1'

250412

Institutional Source

Beutler Lab

Gene Symbol

Pkd1l1

Ensembl Gene

ENSMUSG00000046634

Gene Name

polycystic kidney disease 1 like 1

Synonyms

MMRRC Submission

040392-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8782025-8924365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8897197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 121 (N121D)

Ref Sequence

ENSEMBL: ENSMUSP00000136518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178195]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000154153
AA Change: N571D

SMART Domains

Protein: ENSMUSP00000120803
Gene: ENSMUSG00000046634
AA Change: N571D

Domain	Start	End	E-Value	Type
low complexity region	172	184	N/A	INTRINSIC
PKD	205	287	2.9e0	SMART
PKD	291	369	1.42e-9	SMART
Pfam:REJ	398	1001	1.7e-45	PFAM
low complexity region	1208	1218	N/A	INTRINSIC
GPS	1370	1413	1.21e-1	SMART
transmembrane domain	1434	1451	N/A	INTRINSIC
LH2	1479	1598	2.94e-3	SMART
transmembrane domain	1640	1659	N/A	INTRINSIC
transmembrane domain	1679	1701	N/A	INTRINSIC
transmembrane domain	1817	1839	N/A	INTRINSIC
transmembrane domain	1854	1876	N/A	INTRINSIC
Pfam:PKD_channel	2109	2339	1.5e-23	PFAM
transmembrane domain	2381	2403	N/A	INTRINSIC
low complexity region	2436	2449	N/A	INTRINSIC
low complexity region	2458	2469	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000178195
AA Change: N121D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136518
Gene: ENSMUSG00000046634
AA Change: N121D

Domain	Start	End	E-Value	Type
Pfam:REJ	3	552	3.3e-41	PFAM
low complexity region	757	767	N/A	INTRINSIC
Blast:GPS	919	965	2e-13	BLAST
transmembrane domain	983	1000	N/A	INTRINSIC
Pfam:PLAT	1030	1145	7.2e-14	PFAM
transmembrane domain	1189	1208	N/A	INTRINSIC
transmembrane domain	1228	1250	N/A	INTRINSIC
transmembrane domain	1366	1388	N/A	INTRINSIC
transmembrane domain	1403	1425	N/A	INTRINSIC
Pfam:PKD_channel	1658	1889	2e-25	PFAM
transmembrane domain	1930	1952	N/A	INTRINSIC
low complexity region	1985	1998	N/A	INTRINSIC
low complexity region	2007	2018	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

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 containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU induced point mutation display lethality throughout fetal growth and development with abnormalities in left right patterning and heterotaxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,343,230 (GRCm39)	V504A	probably benign	Het
Atr	T	G	9: 95,744,945 (GRCm39)	N87K	probably benign	Het
Auts2	A	T	5: 132,287,887 (GRCm39)	L32*	probably null	Het
Bptf	A	G	11: 106,938,066 (GRCm39)	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,525,881 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,445,841 (GRCm39)	K444E	probably benign	Het
Cnot1	T	C	8: 96,501,280 (GRCm39)	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,265 (GRCm39)	Y425*	probably null	Het
Eri1	A	G	8: 35,943,632 (GRCm39)	Y221H	probably damaging	Het
Fbln2	A	G	6: 91,246,955 (GRCm39)	E1065G	probably damaging	Het
Focad	T	C	4: 88,249,264 (GRCm39)	V837A	unknown	Het
Ica1	G	A	6: 8,658,265 (GRCm39)	T284I	probably benign	Het
Isg15	C	T	4: 156,285,158 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,019,101 (GRCm39)	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491 (GRCm39)	R332S	probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Or2a25	T	C	6: 42,888,946 (GRCm39)	L163S	probably damaging	Het
Or2ag19	T	C	7: 106,444,598 (GRCm39)	V260A	possibly damaging	Het
Or5b21	T	C	19: 12,839,970 (GRCm39)	V277A	probably damaging	Het
Or7g12	A	G	9: 18,899,299 (GRCm39)	N5S	probably damaging	Het
Piezo2	T	C	18: 63,378,695 (GRCm39)	H78R	possibly damaging	Het
Pkhd1	T	C	1: 20,271,389 (GRCm39)	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 16,749,350 (GRCm39)	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,215,347 (GRCm39)	R1438*	probably null	Het
Ptpro	G	A	6: 137,420,583 (GRCm39)	W183*	probably null	Het
Pygm	T	C	19: 6,443,815 (GRCm39)	M592T	probably damaging	Het
Qdpr	A	G	5: 45,602,072 (GRCm39)	V68A	probably damaging	Het
Rfc5	A	C	5: 117,523,523 (GRCm39)	S92A	probably damaging	Het
Ripor3	T	C	2: 167,831,715 (GRCm39)	Q362R	probably benign	Het
Ror1	G	A	4: 100,298,352 (GRCm39)	C575Y	probably damaging	Het
Skint9	T	A	4: 112,246,464 (GRCm39)	D216V	probably damaging	Het
Sox6	T	C	7: 115,149,242 (GRCm39)		probably null	Het
Ugp2	A	T	11: 21,279,025 (GRCm39)	V387D	probably damaging	Het
Umodl1	T	C	17: 31,211,062 (GRCm39)	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,732,893 (GRCm39)	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,494,827 (GRCm39)	R72H	probably benign	Het

Other mutations in Pkd1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Pkd1l1	APN	11	8,911,971 (GRCm39)	missense	unknown
IGL00156:Pkd1l1	APN	11	8,900,515 (GRCm39)	missense	probably damaging	1.00
IGL00161:Pkd1l1	APN	11	8,879,353 (GRCm39)	critical splice donor site	probably null
IGL00489:Pkd1l1	APN	11	8,784,773 (GRCm39)	critical splice donor site	probably null
IGL00495:Pkd1l1	APN	11	8,818,493 (GRCm39)	missense	probably benign	0.34
IGL00983:Pkd1l1	APN	11	8,794,585 (GRCm39)	missense	probably benign
IGL01071:Pkd1l1	APN	11	8,798,921 (GRCm39)	missense	probably benign	0.00
IGL01093:Pkd1l1	APN	11	8,851,345 (GRCm39)	missense	probably benign	0.06
IGL01295:Pkd1l1	APN	11	8,883,685 (GRCm39)	missense	possibly damaging	0.93
IGL01311:Pkd1l1	APN	11	8,851,174 (GRCm39)	missense	possibly damaging	0.53
IGL01412:Pkd1l1	APN	11	8,900,409 (GRCm39)	missense	possibly damaging	0.73
IGL01978:Pkd1l1	APN	11	8,911,336 (GRCm39)	missense	unknown
IGL01999:Pkd1l1	APN	11	8,786,291 (GRCm39)	missense	probably benign
IGL02080:Pkd1l1	APN	11	8,911,345 (GRCm39)	missense	unknown
IGL02106:Pkd1l1	APN	11	8,783,800 (GRCm39)	missense	probably damaging	1.00
IGL02216:Pkd1l1	APN	11	8,784,897 (GRCm39)	missense	probably damaging	0.96
IGL02305:Pkd1l1	APN	11	8,852,467 (GRCm39)	missense	probably benign
IGL02337:Pkd1l1	APN	11	8,892,079 (GRCm39)	missense	probably damaging	1.00
IGL02576:Pkd1l1	APN	11	8,794,560 (GRCm39)	missense	possibly damaging	0.61
IGL02704:Pkd1l1	APN	11	8,784,910 (GRCm39)	missense	probably benign	0.00
IGL02814:Pkd1l1	APN	11	8,852,582 (GRCm39)	missense	probably benign	0.01
IGL02904:Pkd1l1	APN	11	8,818,450 (GRCm39)	splice site	probably benign
IGL02972:Pkd1l1	APN	11	8,813,908 (GRCm39)	missense	probably damaging	0.99
IGL03091:Pkd1l1	APN	11	8,805,564 (GRCm39)	missense	probably damaging	1.00
IGL03113:Pkd1l1	APN	11	8,784,793 (GRCm39)	missense	probably benign	0.20
IGL03210:Pkd1l1	APN	11	8,915,127 (GRCm39)	missense	unknown
PIT4581001:Pkd1l1	UTSW	11	8,866,298 (GRCm39)	frame shift	probably null
R0020:Pkd1l1	UTSW	11	8,825,765 (GRCm39)	splice site	probably benign
R0020:Pkd1l1	UTSW	11	8,825,765 (GRCm39)	splice site	probably benign
R0496:Pkd1l1	UTSW	11	8,879,430 (GRCm39)	missense	probably damaging	0.96
R0547:Pkd1l1	UTSW	11	8,786,448 (GRCm39)	splice site	probably benign
R0582:Pkd1l1	UTSW	11	8,881,699 (GRCm39)	splice site	probably benign
R0761:Pkd1l1	UTSW	11	8,804,375 (GRCm39)	missense	probably damaging	1.00
R0969:Pkd1l1	UTSW	11	8,886,898 (GRCm39)	missense	probably damaging	1.00
R1348:Pkd1l1	UTSW	11	8,784,806 (GRCm39)	missense	probably benign	0.18
R1366:Pkd1l1	UTSW	11	8,891,038 (GRCm39)	splice site	probably benign
R1401:Pkd1l1	UTSW	11	8,804,487 (GRCm39)	nonsense	probably null
R1444:Pkd1l1	UTSW	11	8,804,386 (GRCm39)	missense	probably damaging	1.00
R1445:Pkd1l1	UTSW	11	8,820,313 (GRCm39)	missense	probably benign	0.00
R1463:Pkd1l1	UTSW	11	8,866,302 (GRCm39)	missense	probably damaging	1.00
R1496:Pkd1l1	UTSW	11	8,891,077 (GRCm39)	missense	possibly damaging	0.95
R1542:Pkd1l1	UTSW	11	8,824,179 (GRCm39)	missense	possibly damaging	0.82
R1543:Pkd1l1	UTSW	11	8,851,200 (GRCm39)	missense	probably damaging	1.00
R1619:Pkd1l1	UTSW	11	8,900,413 (GRCm39)	missense	probably damaging	0.98
R1875:Pkd1l1	UTSW	11	8,794,670 (GRCm39)	splice site	probably benign
R1929:Pkd1l1	UTSW	11	8,786,197 (GRCm39)	splice site	probably benign
R1958:Pkd1l1	UTSW	11	8,824,161 (GRCm39)	missense	probably benign	0.01
R2223:Pkd1l1	UTSW	11	8,900,422 (GRCm39)	missense	probably benign
R2223:Pkd1l1	UTSW	11	8,839,063 (GRCm39)	missense	probably benign	0.18
R2264:Pkd1l1	UTSW	11	8,829,112 (GRCm39)	missense	probably damaging	0.97
R2349:Pkd1l1	UTSW	11	8,776,819 (GRCm39)	splice site	probably null
R2483:Pkd1l1	UTSW	11	8,912,701 (GRCm39)	missense	probably damaging	1.00
R2517:Pkd1l1	UTSW	11	8,908,900 (GRCm39)	missense	unknown
R2888:Pkd1l1	UTSW	11	8,897,251 (GRCm39)	missense	probably damaging	1.00
R2965:Pkd1l1	UTSW	11	8,824,236 (GRCm39)	missense	probably damaging	1.00
R3123:Pkd1l1	UTSW	11	8,923,021 (GRCm39)	missense	unknown
R3153:Pkd1l1	UTSW	11	8,817,207 (GRCm39)	missense	probably benign	0.01
R3840:Pkd1l1	UTSW	11	8,839,050 (GRCm39)	missense	probably damaging	1.00
R3855:Pkd1l1	UTSW	11	8,915,047 (GRCm39)	critical splice donor site	probably null
R3880:Pkd1l1	UTSW	11	8,911,983 (GRCm39)	missense	unknown
R3970:Pkd1l1	UTSW	11	8,824,218 (GRCm39)	missense	probably damaging	1.00
R4195:Pkd1l1	UTSW	11	8,859,929 (GRCm39)	missense	probably damaging	1.00
R4196:Pkd1l1	UTSW	11	8,859,929 (GRCm39)	missense	probably damaging	1.00
R4246:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4247:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4249:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4250:Pkd1l1	UTSW	11	8,815,543 (GRCm39)	missense	possibly damaging	0.51
R4593:Pkd1l1	UTSW	11	8,851,253 (GRCm39)	missense	probably damaging	0.97
R4609:Pkd1l1	UTSW	11	8,908,964 (GRCm39)	missense	unknown
R4797:Pkd1l1	UTSW	11	8,911,340 (GRCm39)	missense	unknown
R4910:Pkd1l1	UTSW	11	8,879,360 (GRCm39)	missense	possibly damaging	0.50
R4940:Pkd1l1	UTSW	11	8,794,585 (GRCm39)	missense	probably benign
R5084:Pkd1l1	UTSW	11	8,892,004 (GRCm39)	missense	probably benign	0.05
R5147:Pkd1l1	UTSW	11	8,799,003 (GRCm39)	missense	possibly damaging	0.71
R5360:Pkd1l1	UTSW	11	8,829,204 (GRCm39)	missense	probably benign
R5483:Pkd1l1	UTSW	11	8,851,141 (GRCm39)	critical splice donor site	probably null
R5604:Pkd1l1	UTSW	11	8,783,877 (GRCm39)	missense	probably damaging	0.98
R5642:Pkd1l1	UTSW	11	8,829,202 (GRCm39)	missense	probably damaging	1.00
R5652:Pkd1l1	UTSW	11	8,859,889 (GRCm39)	missense	probably benign	0.03
R5751:Pkd1l1	UTSW	11	8,817,204 (GRCm39)	missense	possibly damaging	0.45
R5761:Pkd1l1	UTSW	11	8,866,301 (GRCm39)	missense	probably damaging	1.00
R5800:Pkd1l1	UTSW	11	8,811,302 (GRCm39)	missense	probably benign
R5874:Pkd1l1	UTSW	11	8,858,688 (GRCm39)	missense	probably damaging	1.00
R5897:Pkd1l1	UTSW	11	8,829,176 (GRCm39)	missense	probably benign	0.03
R5913:Pkd1l1	UTSW	11	8,813,849 (GRCm39)	missense	probably benign	0.00
R5930:Pkd1l1	UTSW	11	8,908,969 (GRCm39)	missense	unknown
R6000:Pkd1l1	UTSW	11	8,900,427 (GRCm39)	missense	probably benign	0.00
R6005:Pkd1l1	UTSW	11	8,807,113 (GRCm39)	missense	probably damaging	1.00
R6013:Pkd1l1	UTSW	11	8,819,452 (GRCm39)	splice site	probably null
R6027:Pkd1l1	UTSW	11	8,866,272 (GRCm39)	nonsense	probably null
R6028:Pkd1l1	UTSW	11	8,786,267 (GRCm39)	missense	probably benign	0.06
R6129:Pkd1l1	UTSW	11	8,818,543 (GRCm39)	missense	probably benign	0.00
R6182:Pkd1l1	UTSW	11	8,815,555 (GRCm39)	missense	probably benign	0.36
R6226:Pkd1l1	UTSW	11	8,851,287 (GRCm39)	missense	probably benign	0.00
R6257:Pkd1l1	UTSW	11	8,892,195 (GRCm39)	missense	probably benign	0.22
R6340:Pkd1l1	UTSW	11	8,794,649 (GRCm39)	missense	probably benign	0.09
R6478:Pkd1l1	UTSW	11	8,813,911 (GRCm39)	missense	probably benign	0.00
R6558:Pkd1l1	UTSW	11	8,839,052 (GRCm39)	missense	probably benign	0.00
R6750:Pkd1l1	UTSW	11	8,923,217 (GRCm39)	missense	unknown
R6987:Pkd1l1	UTSW	11	8,852,575 (GRCm39)	missense	probably benign	0.01
R6996:Pkd1l1	UTSW	11	8,799,046 (GRCm39)	missense	probably damaging	1.00
R7139:Pkd1l1	UTSW	11	8,840,737 (GRCm39)	missense
R7224:Pkd1l1	UTSW	11	8,895,241 (GRCm39)	missense
R7244:Pkd1l1	UTSW	11	8,821,771 (GRCm39)	missense
R7265:Pkd1l1	UTSW	11	8,879,402 (GRCm39)	missense
R7358:Pkd1l1	UTSW	11	8,895,202 (GRCm39)	missense
R7387:Pkd1l1	UTSW	11	8,851,203 (GRCm39)	missense
R7414:Pkd1l1	UTSW	11	8,866,267 (GRCm39)	missense
R7459:Pkd1l1	UTSW	11	8,852,428 (GRCm39)	missense
R7478:Pkd1l1	UTSW	11	8,879,441 (GRCm39)	missense
R7485:Pkd1l1	UTSW	11	8,915,148 (GRCm39)	missense
R7490:Pkd1l1	UTSW	11	8,866,265 (GRCm39)	missense
R7644:Pkd1l1	UTSW	11	8,825,758 (GRCm39)	missense
R7647:Pkd1l1	UTSW	11	8,897,296 (GRCm39)	missense
R7676:Pkd1l1	UTSW	11	8,912,708 (GRCm39)	missense
R7687:Pkd1l1	UTSW	11	8,804,390 (GRCm39)	missense
R7699:Pkd1l1	UTSW	11	8,915,142 (GRCm39)	missense
R7922:Pkd1l1	UTSW	11	8,859,857 (GRCm39)	missense
R7922:Pkd1l1	UTSW	11	8,799,013 (GRCm39)	missense
R7980:Pkd1l1	UTSW	11	8,804,375 (GRCm39)	missense	probably damaging	1.00
R7993:Pkd1l1	UTSW	11	8,895,262 (GRCm39)	missense
R8052:Pkd1l1	UTSW	11	8,897,315 (GRCm39)	missense
R8125:Pkd1l1	UTSW	11	8,897,241 (GRCm39)	missense	probably damaging	1.00
R8420:Pkd1l1	UTSW	11	8,820,277 (GRCm39)	nonsense	probably null
R8675:Pkd1l1	UTSW	11	8,798,916 (GRCm39)	critical splice donor site	probably null
R8683:Pkd1l1	UTSW	11	8,821,805 (GRCm39)	missense
R8709:Pkd1l1	UTSW	11	8,805,567 (GRCm39)	missense
R8711:Pkd1l1	UTSW	11	8,815,550 (GRCm39)	missense
R8725:Pkd1l1	UTSW	11	8,911,482 (GRCm39)	missense
R8733:Pkd1l1	UTSW	11	8,883,657 (GRCm39)	missense
R8822:Pkd1l1	UTSW	11	8,806,312 (GRCm39)	missense
R8871:Pkd1l1	UTSW	11	8,900,503 (GRCm39)	missense
R9009:Pkd1l1	UTSW	11	8,881,552 (GRCm39)	missense
R9099:Pkd1l1	UTSW	11	8,922,986 (GRCm39)	missense
R9119:Pkd1l1	UTSW	11	8,829,107 (GRCm39)	missense
R9150:Pkd1l1	UTSW	11	8,786,256 (GRCm39)	missense
R9314:Pkd1l1	UTSW	11	8,829,153 (GRCm39)	missense
R9341:Pkd1l1	UTSW	11	8,911,305 (GRCm39)	missense
R9341:Pkd1l1	UTSW	11	8,786,399 (GRCm39)	missense
R9343:Pkd1l1	UTSW	11	8,911,305 (GRCm39)	missense
R9343:Pkd1l1	UTSW	11	8,786,399 (GRCm39)	missense
R9392:Pkd1l1	UTSW	11	8,794,567 (GRCm39)	missense
R9424:Pkd1l1	UTSW	11	8,820,091 (GRCm39)	missense
R9496:Pkd1l1	UTSW	11	8,783,773 (GRCm39)	critical splice donor site	probably null
R9504:Pkd1l1	UTSW	11	8,815,631 (GRCm39)	missense
R9563:Pkd1l1	UTSW	11	8,815,502 (GRCm39)	missense
R9570:Pkd1l1	UTSW	11	8,840,697 (GRCm39)	missense
R9585:Pkd1l1	UTSW	11	8,804,390 (GRCm39)	missense
R9618:Pkd1l1	UTSW	11	8,911,420 (GRCm39)	missense
R9709:Pkd1l1	UTSW	11	8,799,016 (GRCm39)	missense	probably damaging	0.98
R9741:Pkd1l1	UTSW	11	8,897,224 (GRCm39)	missense
R9801:Pkd1l1	UTSW	11	8,908,964 (GRCm39)	nonsense	probably null
X0024:Pkd1l1	UTSW	11	8,900,413 (GRCm39)	missense	probably benign	0.01
X0063:Pkd1l1	UTSW	11	8,879,430 (GRCm39)	missense	probably damaging	0.96
X0065:Pkd1l1	UTSW	11	8,859,921 (GRCm39)	missense	probably benign	0.10
Z1176:Pkd1l1	UTSW	11	8,776,801 (GRCm39)	missense
Z1177:Pkd1l1	UTSW	11	8,895,208 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CTTCTTCTCCAGGAGACACAG -3'
(R):5'- GTATCACTGGACTTGCACAGC -3'

Sequencing Primer
(F):5'- TCTTCTCCAGGAGACACAGAACTATC -3'
(R):5'- ACTTGCACAGCGGCCAG -3'

Posted On

2014-11-12