Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Pkd2l2'

82981

Institutional Source

Beutler Lab

Gene Symbol

Pkd2l2

Ensembl Gene

ENSMUSG00000014503

Gene Name

polycystic kidney disease 2-like 2

Synonyms

Polycystin - L2, TRPP5

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34541553-34575842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34561305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 438 (T438A)

Ref Sequence

ENSEMBL: ENSMUSP00000127257 (fasta)

Gene Model

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

AlphaFold

Q9JLG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000014647
AA Change: T438A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503
AA Change: T438A

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 damaging
Transcript: ENSMUST00000166156
AA Change: T438A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503
AA Change: T438A

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

Meta Mutation Damage Score

0.5717

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,997 (GRCm39)		probably null	Het
Adam18	T	C	8: 25,137,869 (GRCm39)	T324A	probably benign	Het
AI429214	A	G	8: 37,461,473 (GRCm39)	Q207R	probably benign	Het
Asic5	C	T	3: 81,915,755 (GRCm39)		probably benign	Het
Atp13a1	T	C	8: 70,254,794 (GRCm39)		probably null	Het
Atp6v0a1	T	A	11: 100,946,317 (GRCm39)	L770*	probably null	Het
B3gnt5	T	A	16: 19,588,760 (GRCm39)	D326E	probably damaging	Het
Btbd9	T	A	17: 30,518,607 (GRCm39)	D451V	probably damaging	Het
Cd46	T	C	1: 194,724,300 (GRCm39)	*366W	probably null	Het
Cdcp3	T	C	7: 130,839,911 (GRCm39)	L611P	probably damaging	Het
Cenpc1	A	T	5: 86,185,767 (GRCm39)	V248E	probably damaging	Het
Cep152	A	G	2: 125,436,819 (GRCm39)	S574P	probably benign	Het
Cep250	A	G	2: 155,806,209 (GRCm39)		probably benign	Het
Chd2	A	G	7: 73,128,412 (GRCm39)	S858P	probably damaging	Het
Cxcl1	A	T	5: 91,039,626 (GRCm39)	K85*	probably null	Het
Daam1	A	C	12: 71,962,558 (GRCm39)	K90T	unknown	Het
Dip2c	G	A	13: 9,626,944 (GRCm39)	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,177,987 (GRCm39)	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,579,710 (GRCm39)	V3081A	probably damaging	Het
Dnah9	A	T	11: 65,896,663 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,804,538 (GRCm39)	E22G	probably damaging	Het
Ephb6	A	G	6: 41,591,038 (GRCm39)	D65G	probably damaging	Het
Flt4	C	T	11: 49,527,166 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,807,436 (GRCm39)	T1252S	probably benign	Het
Gm12500	T	C	3: 107,993,792 (GRCm39)		probably null	Het
Gm6327	T	C	16: 12,578,977 (GRCm39)		noncoding transcript	Het
Golga4	T	C	9: 118,366,341 (GRCm39)	I365T	probably damaging	Het
Gp2	A	T	7: 119,053,766 (GRCm39)	L65Q	probably damaging	Het
Ice1	C	A	13: 70,750,546 (GRCm39)	V1847L	probably benign	Het
Ift172	T	C	5: 31,415,262 (GRCm39)		probably benign	Het
Kbtbd7	A	G	14: 79,664,870 (GRCm39)	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,332,576 (GRCm39)	T235A	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Lgals8	A	T	13: 12,466,276 (GRCm39)		probably benign	Het
Lrfn5	G	A	12: 61,890,223 (GRCm39)	G504D	probably damaging	Het
Map6	G	A	7: 98,985,950 (GRCm39)	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,321,257 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,223,346 (GRCm39)	I222N	probably damaging	Het
Myh7b	G	A	2: 155,462,347 (GRCm39)	C350Y	probably benign	Het
Naa25	T	C	5: 121,576,779 (GRCm39)		probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Olfm3	C	A	3: 114,895,635 (GRCm39)	S172R	probably benign	Het
Or13e8	A	G	4: 43,696,706 (GRCm39)	S156P	probably damaging	Het
Or1j14	A	G	2: 36,418,020 (GRCm39)	I199V	probably benign	Het
Or4c1	A	T	2: 89,133,528 (GRCm39)	I136N	probably damaging	Het
Or5d40	A	T	2: 88,015,322 (GRCm39)	T34S	probably benign	Het
Pacs1	A	T	19: 5,193,857 (GRCm39)	D557E	probably damaging	Het
Phactr2	T	C	10: 13,122,883 (GRCm39)	D343G	possibly damaging	Het
Pld2	T	C	11: 70,447,907 (GRCm39)	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734 (GRCm39)		probably benign	Het
Rilpl1	A	G	5: 124,639,951 (GRCm39)	I122T	possibly damaging	Het
Rilpl1	A	G	5: 124,639,934 (GRCm39)	S156P	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,284,078 (GRCm39)	V260A	probably benign	Het
Skint1	T	G	4: 111,885,412 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,850,725 (GRCm39)	F533S	probably benign	Het
Slc38a4	C	T	15: 96,903,739 (GRCm39)	V421M	probably benign	Het
Snx14	A	G	9: 88,282,774 (GRCm39)		probably null	Het
Spag7	A	G	11: 70,560,008 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,109,381 (GRCm39)	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,880,392 (GRCm39)	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,713,699 (GRCm39)	T122A	probably benign	Het
Tmem59l	G	A	8: 70,938,710 (GRCm39)	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,602,122 (GRCm39)	T396S	probably benign	Het
Usp24	T	A	4: 106,228,276 (GRCm39)	Y780*	probably null	Het
Usp24	A	G	4: 106,270,875 (GRCm39)		probably null	Het
Utp25	A	T	1: 192,797,011 (GRCm39)	N573K	probably damaging	Het
Vmn2r53	A	G	7: 12,335,319 (GRCm39)	F114L	probably damaging	Het
Zfp626	G	A	7: 27,517,907 (GRCm39)	R296H	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
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
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'- TGGAACGCACTGACTCTTGCTC -3'
(R):5'- TGTAGCAAACGCTGATCCACTCTC -3'

Sequencing Primer
(F):5'- CCCTGTTGCTTTCAGATATTCAAG -3'
(R):5'- TCTGACTTGACCTACCAATGAC -3'

Posted On

2013-11-08