Mutagenetix > Incidental Mutation

Incidental Mutation 'R7944:Pkd2l2'

649258

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l2

Ensembl Gene

ENSMUSG00000014503

Gene Name

polycystic kidney disease 2-like 2

Synonyms

Polycystin - L2, TRPP5

MMRRC Submission

045990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7944 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34541553-34575842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34560481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 363 (Y363N)

Ref Sequence

ENSEMBL: ENSMUSP00000014647 (fasta)

Gene Model

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

AlphaFold

Q9JLG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014647
AA Change: Y363N

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: Y363N

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: Y363N

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: Y363N

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: 99.4%
20x: 98.0%

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
Adprhl1	T	A	8: 13,271,929 (GRCm39)	R1610W	probably damaging	Het
Aig1	A	T	10: 13,744,417 (GRCm39)	M29K	probably damaging	Het
Alms1	A	T	6: 85,618,362 (GRCm39)	I2334F	probably benign	Het
Ano6	A	G	15: 95,839,190 (GRCm39)	Y423C	probably damaging	Het
Arap3	T	C	18: 38,122,232 (GRCm39)	M619V	probably benign	Het
Armh4	T	A	14: 50,010,670 (GRCm39)	T346S	probably benign	Het
Asb13	T	A	13: 3,699,413 (GRCm39)	F204L	probably damaging	Het
Btaf1	T	C	19: 36,926,565 (GRCm39)	V79A	probably benign	Het
Casp8ap2	A	G	4: 32,645,909 (GRCm39)	T1661A	probably benign	Het
Ccna1	G	T	3: 54,958,010 (GRCm39)	T165K	possibly damaging	Het
Cdc42ep1	T	A	15: 78,731,973 (GRCm39)	S139R	possibly damaging	Het
Chil3	A	C	3: 106,057,464 (GRCm39)	Y233*	probably null	Het
Clec1a	T	C	6: 129,409,150 (GRCm39)	S159G	probably benign	Het
Cltc	A	T	11: 86,627,967 (GRCm39)	N60K	probably benign	Het
Dlgap4	T	A	2: 156,591,054 (GRCm39)	Y747N	probably damaging	Het
Dnah7b	A	G	1: 46,266,163 (GRCm39)	N2244S	probably benign	Het
Ephb3	A	G	16: 21,040,434 (GRCm39)	T811A	probably damaging	Het
Fbxo21	T	C	5: 118,146,212 (GRCm39)	Y612H	possibly damaging	Het
Gale	T	C	4: 135,692,982 (GRCm39)	L75P	probably damaging	Het
Golgb1	T	C	16: 36,734,466 (GRCm39)	S1279P	probably benign	Het
Hdgfl3	T	C	7: 81,583,706 (GRCm39)	Y22C	possibly damaging	Het
Hmx3	T	G	7: 131,146,111 (GRCm39)	I273S	probably damaging	Het
Hpse2	T	C	19: 43,373,248 (GRCm39)	N127S	probably benign	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,224 (GRCm39)	H411L	probably benign	Het
Krtap27-1	T	C	16: 88,468,340 (GRCm39)	N68S	probably benign	Het
Ltbp1	T	G	17: 75,697,546 (GRCm39)	*1713G	probably null	Het
Lypd6b	A	G	2: 49,833,612 (GRCm39)	E84G	probably damaging	Het
Meiosin	T	A	7: 18,834,011 (GRCm39)	K508N	unknown	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Mrto4	T	C	4: 139,077,000 (GRCm39)	Y39C	probably benign	Het
Mtmr4	T	C	11: 87,495,254 (GRCm39)	V437A	probably damaging	Het
Mylk4	T	C	13: 32,911,096 (GRCm39)	T221A	probably benign	Het
Neb	T	C	2: 52,161,360 (GRCm39)	D2144G	probably damaging	Het
Nup210	T	G	6: 91,050,179 (GRCm39)	D430A	probably damaging	Het
Obscn	T	A	11: 58,984,235 (GRCm39)	E1740V	probably damaging	Het
Or8i2	A	G	2: 86,852,657 (GRCm39)	V77A	probably benign	Het
Panx1	A	G	9: 14,919,125 (GRCm39)	C245R	probably damaging	Het
Pcdha6	C	A	18: 37,101,965 (GRCm39)	T386N	possibly damaging	Het
Pcsk1	G	A	13: 75,280,211 (GRCm39)	A679T	probably benign	Het
Pdzph1	T	C	17: 59,239,455 (GRCm39)	T958A	probably damaging	Het
Plekha5	T	A	6: 140,526,201 (GRCm39)	H946Q	possibly damaging	Het
Rhbg	A	G	3: 88,155,007 (GRCm39)	L168P	probably benign	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rtn2	T	A	7: 19,020,987 (GRCm39)	S153R	probably benign	Het
Serpinb1a	C	A	13: 33,034,239 (GRCm39)	A51S	probably benign	Het
Serpinb6e	T	A	13: 34,016,588 (GRCm39)	T382S	probably damaging	Het
Sgip1	T	G	4: 102,772,298 (GRCm39)	M229R	probably benign	Het
Slc1a5	C	A	7: 16,523,807 (GRCm39)	R271S	possibly damaging	Het
Slc23a3	A	G	1: 75,106,040 (GRCm39)		probably null	Het
Slc7a6	C	T	8: 106,906,239 (GRCm39)	P157L	possibly damaging	Het
Spsb1	T	C	4: 149,990,903 (GRCm39)	I222V	probably benign	Het
Syne2	A	T	12: 75,951,079 (GRCm39)	E410V	probably damaging	Het
Trappc3	T	C	4: 126,168,999 (GRCm39)	I163T	probably damaging	Het
Treh	T	C	9: 44,592,584 (GRCm39)	V63A	probably damaging	Het
Ttc6	T	G	12: 57,707,229 (GRCm39)	L712R	possibly damaging	Het
Ttn	G	T	2: 76,715,309 (GRCm39)	Q7928K	unknown	Het
Tuft1	G	A	3: 94,539,909 (GRCm39)	P159S	probably benign	Het
Vmn2r108	T	C	17: 20,691,890 (GRCm39)	H211R	probably damaging	Het
Wapl	T	C	14: 34,399,105 (GRCm39)	I58T	probably benign	Het
Zfp78	C	T	7: 6,381,589 (GRCm39)	T213I	possibly damaging	Het
Zmat4	T	A	8: 24,238,436 (GRCm39)	I6N	possibly damaging	Het
Zp3r	G	T	1: 130,524,560 (GRCm39)	P226Q	probably 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
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
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'- TCAGAGGCTGAGAGACATTTTG -3'
(R):5'- TTATCCAGTGTGCCAAATTGC -3'

Sequencing Primer
(F):5'- GACATTTTGAGACAGAAATGGTCTTC -3'
(R):5'- AAAATCACTTCCTGGGGCTG -3'

Posted On

2020-09-15