Mutagenetix > Incidental Mutation

Incidental Mutation 'R1579:Pkd2l2'

171327

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l2

Ensembl Gene

ENSMUSG00000014503

Gene Name

polycystic kidney disease 2-like 2

Synonyms

Polycystin - L2, TRPP5

MMRRC Submission

039616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1579 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34541553-34575842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34560446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 351 (N351I)

Ref Sequence

ENSEMBL: ENSMUSP00000127257 (fasta)

Gene Model

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

AlphaFold

Q9JLG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014647
AA Change: N351I

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: N351I

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

possibly damaging
Transcript: ENSMUST00000166156
AA Change: N351I

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: N351I

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	C	16: 3,724,039 (GRCm39)	R162G	probably benign	Het
Adamtsl4	T	A	3: 95,592,807 (GRCm39)		probably benign	Het
Adgrv1	A	T	13: 81,711,898 (GRCm39)	L306H	probably damaging	Het
Aknad1	T	A	3: 108,659,452 (GRCm39)	Y155*	probably null	Het
Aldh6a1	C	T	12: 84,488,622 (GRCm39)	R88H	possibly damaging	Het
Apc2	G	C	10: 80,147,179 (GRCm39)	K715N	probably damaging	Het
Arhgap45	G	A	10: 79,864,811 (GRCm39)	V798M	probably damaging	Het
Calcrl	T	C	2: 84,163,881 (GRCm39)	T437A	probably benign	Het
Cdan1	A	G	2: 120,561,220 (GRCm39)	F183L	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntnap4	A	G	8: 113,608,462 (GRCm39)	E1294G	possibly damaging	Het
Crybg3	C	A	16: 59,350,561 (GRCm39)	G2607V	probably damaging	Het
Dhx29	G	T	13: 113,072,132 (GRCm39)		probably null	Het
Dmrtb1	T	A	4: 107,541,322 (GRCm39)	H13L	probably damaging	Het
Echdc2	A	G	4: 108,031,006 (GRCm39)	M162V	probably benign	Het
Entpd8	A	G	2: 24,974,986 (GRCm39)	D439G	possibly damaging	Het
Fastkd2	C	G	1: 63,785,046 (GRCm39)	H477Q	probably null	Het
Fbrs	A	G	7: 127,084,529 (GRCm39)	E517G	probably damaging	Het
Gchfr	A	G	2: 119,002,502 (GRCm39)	T71A	possibly damaging	Het
Hecw1	A	T	13: 14,552,492 (GRCm39)	C35S	probably damaging	Het
Izumo1r	C	T	9: 14,813,098 (GRCm39)	R58H	probably benign	Het
Kif13a	T	C	13: 46,906,332 (GRCm39)	E537G	possibly damaging	Het
Kif13b	G	A	14: 65,019,790 (GRCm39)		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,378,340 (GRCm39)	D140E	probably damaging	Het
Ltbp1	A	G	17: 75,559,362 (GRCm39)	M284V	probably benign	Het
Me3	A	T	7: 89,495,050 (GRCm39)	T323S	possibly damaging	Het
Mtus1	A	G	8: 41,535,895 (GRCm39)	V607A	probably damaging	Het
Myh14	A	T	7: 44,305,118 (GRCm39)		probably null	Het
Myo1h	T	A	5: 114,485,496 (GRCm39)	C545*	probably null	Het
Nbn	T	A	4: 15,964,289 (GRCm39)	D121E	probably damaging	Het
Nox4	A	G	7: 87,019,231 (GRCm39)	Y408C	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or10q1b	A	G	19: 13,682,566 (GRCm39)	D125G	probably damaging	Het
Or52d3	T	A	7: 104,229,268 (GRCm39)	Y138*	probably null	Het
Or5w20	G	A	2: 87,727,286 (GRCm39)	A248T	probably benign	Het
Osbpl5	T	C	7: 143,262,939 (GRCm39)	T150A	possibly damaging	Het
Pgap3	C	A	11: 98,280,879 (GRCm39)	M265I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Prkdc	T	A	16: 15,493,192 (GRCm39)	Y700N	probably benign	Het
Pzp	A	G	6: 128,500,931 (GRCm39)		probably null	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rptor	A	T	11: 119,786,827 (GRCm39)	Q1264L	probably benign	Het
Scnn1a	T	C	6: 125,299,103 (GRCm39)	F61S	probably damaging	Het
Tenm2	C	A	11: 35,997,610 (GRCm39)	W825C	probably damaging	Het
Tex264	A	T	9: 106,559,116 (GRCm39)	I70N	possibly damaging	Het
Tns2	G	T	15: 102,019,645 (GRCm39)	D504Y	probably damaging	Het
Trappc14	T	C	5: 138,260,128 (GRCm39)	I338V	probably benign	Het
Trpc2	T	A	7: 101,733,447 (GRCm39)	F132Y	probably damaging	Het
Trpm4	A	G	7: 44,958,021 (GRCm39)	F816S	probably damaging	Het
Uqcc1	G	A	2: 155,763,641 (GRCm39)	Q5*	probably null	Het
Usp36	G	T	11: 118,175,771 (GRCm39)	T130N	probably damaging	Het
Vav1	A	G	17: 57,604,252 (GRCm39)	M165V	probably benign	Het
Vmn1r64	A	T	7: 5,886,803 (GRCm39)	F247I	probably damaging	Het
Vmn2r26	G	C	6: 124,016,706 (GRCm39)	R390P	probably benign	Het
Vmn2r57	G	T	7: 41,049,548 (GRCm39)	H734N	probably benign	Het
Wfdc16	G	T	2: 164,477,843 (GRCm39)	H69N	possibly damaging	Het
Zfp316	C	T	5: 143,239,317 (GRCm39)	E901K	probably damaging	Het
Zfp334	T	C	2: 165,223,719 (GRCm39)	E108G	probably damaging	Het
Zfp407	T	C	18: 84,227,763 (GRCm39)	S1949G	probably benign	Het
Zfp408	A	G	2: 91,476,473 (GRCm39)	L227P	probably benign	Het
Zfp560	T	C	9: 20,259,287 (GRCm39)	H525R	possibly damaging	Het
Zfp609	G	A	9: 65,611,754 (GRCm39)	A403V	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
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
R6958:Pkd2l2	UTSW	18	34,542,543 (GRCm39)	nonsense	probably null
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'- CCACAAGGCTTGTAGAAGGAAACCG -3'
(R):5'- GGGAAATGCTTCCCCTCCATACAC -3'

Sequencing Primer
(F):5'- AGAGACATTTGTATGCTCTCAGCC -3'
(R):5'- GCTAATACACACGTGCTACTGG -3'

Posted On

2014-04-13