Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Pkd2l2'

541615

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l2

Ensembl Gene

ENSMUSG00000014503

Gene Name

polycystic kidney disease 2-like 2

Synonyms

Polycystin - L2, TRPP5

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34541553-34575842 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 34542543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 8 (Y8*)

Ref Sequence

ENSEMBL: ENSMUSP00000127257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000166156]

AlphaFold

Q9JLG4

Predicted Effect

probably null
Transcript: ENSMUST00000014647
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: Y8*

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.8e-129	PFAM
Pfam:Ion_trans	281	490	4.1e-19	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000166156
AA Change: Y8*

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: Y8*

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.6e-131	PFAM
Pfam:Ion_trans	242	502	4.8e-20	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted gene disruption display hyperactivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,649,558 (GRCm39)	D159G	probably benign	Het
Ahnak	A	G	19: 8,992,579 (GRCm39)	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,784,604 (GRCm39)	A144V	probably damaging	Het
Bhmt1b	G	A	18: 87,775,046 (GRCm39)	E190K	probably benign	Het
Ccdc14	T	C	16: 34,511,176 (GRCm39)	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,179,731 (GRCm39)	V243I	probably benign	Het
Cdk12	A	T	11: 98,132,525 (GRCm39)	I985F	unknown	Het
Cfap65	T	C	1: 74,971,058 (GRCm39)	T87A	possibly damaging	Het
Cilp2	G	A	8: 70,335,190 (GRCm39)	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cpa6	C	T	1: 10,665,913 (GRCm39)	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,112,402 (GRCm39)	I115V	probably benign	Het
Dnah11	G	T	12: 117,897,544 (GRCm39)	P3562Q	probably damaging	Het
Dnah9	A	G	11: 65,967,167 (GRCm39)	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,571,067 (GRCm39)	Q69R	probably benign	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,869,667 (GRCm39)	C785S	probably benign	Het
Elk4	T	A	1: 131,945,570 (GRCm39)	F149L	probably damaging	Het
Fgf14	A	G	14: 124,914,009 (GRCm39)	W41R	probably benign	Het
Fmnl1	T	A	11: 103,062,140 (GRCm39)	M1K	probably null	Het
Foxk2	A	T	11: 121,190,563 (GRCm39)	Q568L	probably benign	Het
Fryl	T	G	5: 73,231,272 (GRCm39)	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,282,744 (GRCm39)	I75V	probably damaging	Het
Gm3233	T	A	10: 77,595,369 (GRCm39)		probably benign	Het
Gnb1	G	T	4: 155,627,651 (GRCm39)		probably null	Het
Gphn	G	T	12: 78,727,073 (GRCm39)	V662L	possibly damaging	Het
Il3	A	C	11: 54,157,937 (GRCm39)	V47G	probably benign	Het
Iqgap3	A	G	3: 88,020,673 (GRCm39)	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,216,698 (GRCm39)	S90P	unknown	Het
Lars1	C	T	18: 42,369,704 (GRCm39)	V394I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp10	A	G	14: 54,707,278 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Lzts2	G	T	19: 45,012,582 (GRCm39)		probably benign	Het
Msantd2	A	G	9: 37,434,753 (GRCm39)	E331G	probably damaging	Het
Myo15a	G	A	11: 60,394,451 (GRCm39)	G1218S	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nhp2	A	G	11: 51,513,934 (GRCm39)	T118A	probably benign	Het
Nup155	A	G	15: 8,176,638 (GRCm39)	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,237,566 (GRCm39)	C230S	probably damaging	Het
Or12d13	T	C	17: 37,647,308 (GRCm39)	I272V	probably benign	Het
Or51g2	A	G	7: 102,623,091 (GRCm39)	L36P	possibly damaging	Het
Or5w8	T	C	2: 87,688,295 (GRCm39)	Y259H	probably damaging	Het
Pfkfb4	A	T	9: 108,839,615 (GRCm39)	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,143,091 (GRCm39)	R24Q	probably damaging	Het
Pramel20	A	T	4: 143,297,829 (GRCm39)	D83V	probably damaging	Het
Ptprb	T	A	10: 116,113,153 (GRCm39)	N44K	probably benign	Het
Sds	G	A	5: 120,619,537 (GRCm39)	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,364,065 (GRCm39)	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442 (GRCm39)	A636T	probably benign	Het
Slc27a1	C	T	8: 72,038,083 (GRCm39)	A577V	possibly damaging	Het
Spata13	A	T	14: 60,989,300 (GRCm39)	T319S	possibly damaging	Het
Styxl2	T	A	1: 165,935,565 (GRCm39)	D211V	probably damaging	Het
Tdrd3	A	G	14: 87,694,532 (GRCm39)	D29G	probably damaging	Het
Tex15	A	T	8: 34,060,899 (GRCm39)	I110L	probably benign	Het
Treml2	A	G	17: 48,615,180 (GRCm39)	T222A	probably damaging	Het
Trpd52l3	A	T	19: 29,981,546 (GRCm39)	L100F	probably damaging	Het
Ttf2	C	T	3: 100,853,248 (GRCm39)	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,404,144 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,235,855 (GRCm39)	T648A	probably benign	Het
Zfp641	C	T	15: 98,190,832 (GRCm39)	V71I	possibly damaging	Het

Other mutations in Pkd2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Pkd2l2	APN	18	34,550,068 (GRCm39)	missense	probably damaging	1.00
IGL01943:Pkd2l2	APN	18	34,550,089 (GRCm39)	missense	probably damaging	1.00
IGL02039:Pkd2l2	APN	18	34,568,421 (GRCm39)	critical splice donor site	probably null
IGL02139:Pkd2l2	APN	18	34,545,768 (GRCm39)	nonsense	probably null
IGL02480:Pkd2l2	APN	18	34,571,843 (GRCm39)	missense	possibly damaging	0.48
IGL02742:Pkd2l2	APN	18	34,549,970 (GRCm39)	nonsense	probably null
IGL02818:Pkd2l2	APN	18	34,545,862 (GRCm39)	missense	probably damaging	0.97
IGL03218:Pkd2l2	APN	18	34,563,373 (GRCm39)	missense	probably damaging	1.00
IGL03345:Pkd2l2	APN	18	34,558,142 (GRCm39)	missense	probably damaging	1.00
R0362:Pkd2l2	UTSW	18	34,568,380 (GRCm39)	missense	probably benign	0.03
R0627:Pkd2l2	UTSW	18	34,558,155 (GRCm39)	missense	probably damaging	1.00
R0883:Pkd2l2	UTSW	18	34,563,321 (GRCm39)	splice site	probably null
R0973:Pkd2l2	UTSW	18	34,561,305 (GRCm39)	missense	probably damaging	1.00
R0973:Pkd2l2	UTSW	18	34,561,305 (GRCm39)	missense	probably damaging	1.00
R0974:Pkd2l2	UTSW	18	34,561,305 (GRCm39)	missense	probably damaging	1.00
R1199:Pkd2l2	UTSW	18	34,571,269 (GRCm39)	critical splice donor site	probably null
R1529:Pkd2l2	UTSW	18	34,563,755 (GRCm39)	missense	probably damaging	1.00
R1579:Pkd2l2	UTSW	18	34,560,446 (GRCm39)	missense	possibly damaging	0.49
R2229:Pkd2l2	UTSW	18	34,563,382 (GRCm39)	missense	probably damaging	1.00
R3695:Pkd2l2	UTSW	18	34,571,843 (GRCm39)	missense	possibly damaging	0.48
R4058:Pkd2l2	UTSW	18	34,561,245 (GRCm39)	missense	probably benign	0.22
R4600:Pkd2l2	UTSW	18	34,571,254 (GRCm39)	missense	probably benign	0.03
R4651:Pkd2l2	UTSW	18	34,542,889 (GRCm39)	nonsense	probably null
R4652:Pkd2l2	UTSW	18	34,542,889 (GRCm39)	nonsense	probably null
R5114:Pkd2l2	UTSW	18	34,566,355 (GRCm39)	missense	probably benign
R5341:Pkd2l2	UTSW	18	34,542,987 (GRCm39)	splice site	probably null
R5686:Pkd2l2	UTSW	18	34,558,290 (GRCm39)	missense	probably damaging	1.00
R5920:Pkd2l2	UTSW	18	34,563,826 (GRCm39)	missense	probably benign
R6061:Pkd2l2	UTSW	18	34,563,742 (GRCm39)	missense	probably damaging	1.00
R6167:Pkd2l2	UTSW	18	34,561,297 (GRCm39)	missense	probably damaging	1.00
R6217:Pkd2l2	UTSW	18	34,547,733 (GRCm39)	missense	probably benign	0.03
R6293:Pkd2l2	UTSW	18	34,560,497 (GRCm39)	missense	probably damaging	1.00
R6572:Pkd2l2	UTSW	18	34,571,824 (GRCm39)	missense	probably damaging	0.99
R6574:Pkd2l2	UTSW	18	34,558,134 (GRCm39)	missense	probably damaging	1.00
R6723:Pkd2l2	UTSW	18	34,571,210 (GRCm39)	missense	probably damaging	0.98
R6941:Pkd2l2	UTSW	18	34,549,936 (GRCm39)	missense	probably benign	0.02
R7052:Pkd2l2	UTSW	18	34,558,212 (GRCm39)	missense	possibly damaging	0.90
R7695:Pkd2l2	UTSW	18	34,561,298 (GRCm39)	missense	possibly damaging	0.77
R7763:Pkd2l2	UTSW	18	34,566,340 (GRCm39)	critical splice acceptor site	probably null
R7777:Pkd2l2	UTSW	18	34,549,913 (GRCm39)	missense	probably damaging	1.00
R7944:Pkd2l2	UTSW	18	34,560,481 (GRCm39)	missense	possibly damaging	0.90
R8003:Pkd2l2	UTSW	18	34,561,232 (GRCm39)	missense	probably damaging	1.00
R8468:Pkd2l2	UTSW	18	34,560,464 (GRCm39)	missense	possibly damaging	0.88
R8482:Pkd2l2	UTSW	18	34,558,166 (GRCm39)	missense	possibly damaging	0.52
R8729:Pkd2l2	UTSW	18	34,566,354 (GRCm39)	missense	probably benign
R8894:Pkd2l2	UTSW	18	34,571,273 (GRCm39)	splice site	probably benign
R9336:Pkd2l2	UTSW	18	34,561,158 (GRCm39)	missense	probably damaging	1.00
R9408:Pkd2l2	UTSW	18	34,563,383 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTCTCAGGAGGTGAAGCG -3'
(R):5'- TGGCTCCAGATGTAGCTAGC -3'

Sequencing Primer
(F):5'- GTTAGCACTCTGAGGCA -3'
(R):5'- CTCCAGATGTAGCTAGCGGTCAAG -3'

Posted On

2018-11-28