Mutagenetix > Incidental Mutation

Incidental Mutation 'R2115:Pick1'

233069

Institutional Source

Beutler Lab

Gene Symbol

Pick1

Ensembl Gene

ENSMUSG00000116121

Gene Name

protein interacting with C kinase 1

Synonyms

Prkcabp

MMRRC Submission

040119-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79113373-79133666 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 79139781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039752] [ENSMUST00000053926] [ENSMUST00000165408] [ENSMUST00000169462]

AlphaFold

no structure available at present

PDB Structure

I-BAR OF PinkBAR [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000039752

SMART Domains

Protein: ENSMUSP00000040522
Gene: ENSMUSG00000032988

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:MFS_1	20	349	1.3e-28	PFAM
transmembrane domain	353	372	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC
low complexity region	465	480	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000053926
AA Change: V360E

SMART Domains

Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: V360E

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	363	1.18e-103	SMART
GLECT	393	530	7.99e-3	SMART
Gal-bind_lectin	399	530	4.49e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165408

SMART Domains

Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	226	1e-90	PFAM
low complexity region	232	244	N/A	INTRINSIC
SH3	327	386	2.54e-9	SMART
low complexity region	389	409	N/A	INTRINSIC
low complexity region	443	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169462

SMART Domains

Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126

Domain	Start	End	E-Value	Type
Pfam:IMD	16	226	3.8e-83	PFAM
low complexity region	232	244	N/A	INTRINSIC
low complexity region	258	299	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230477

Meta Mutation Damage Score

0.0636

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show impaired synaptic plasticity and lack of long-term depression; males are infertile due to reduced sperm count and impaired sperm motility, and display small testes and seminiferous tubules, malformed acrosomes, globozoospermia, and male germ cell apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,900,562 (GRCm39)	T1195A	probably benign	Het
Abca12	A	T	1: 71,283,930 (GRCm39)	N2547K	probably benign	Het
Abca16	A	C	7: 120,139,868 (GRCm39)	E1510A	probably damaging	Het
Adam5	A	G	8: 25,234,161 (GRCm39)		probably benign	Het
Akna	G	A	4: 63,313,397 (GRCm39)	P242L	probably benign	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,767,361 (GRCm39)	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Ark2n	T	C	18: 77,762,168 (GRCm39)	D48G	possibly damaging	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Atxn1l	C	T	8: 110,459,240 (GRCm39)	A341T	probably benign	Het
Birc7	C	A	2: 180,572,642 (GRCm39)	Q138K	possibly damaging	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Chad	C	T	11: 94,459,052 (GRCm39)	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534 (GRCm39)		probably null	Het
Dnah17	C	T	11: 118,010,628 (GRCm39)	C230Y	probably benign	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Dusp11	T	C	6: 85,935,651 (GRCm39)	D74G	probably damaging	Het
Duxf4	T	C	10: 58,072,073 (GRCm39)	D47G	possibly damaging	Het
Eif3m	T	C	2: 104,837,141 (GRCm39)	T61A	probably damaging	Het
Esyt1	T	A	10: 128,357,973 (GRCm39)	D212V	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
F13a1	A	T	13: 37,172,831 (GRCm39)	I183N	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,503,423 (GRCm39)	N68K	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm1527	T	C	3: 28,972,098 (GRCm39)	L405P	probably benign	Het
Heatr6	T	A	11: 83,648,281 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,835,576 (GRCm39)		probably benign	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,194,120 (GRCm39)	R60Q	probably benign	Het
Katnal2	T	C	18: 77,067,787 (GRCm39)	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,480,701 (GRCm39)	L755F	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
Kifc3	A	G	8: 95,835,341 (GRCm39)	Y178H	probably damaging	Het
Krit1	A	T	5: 3,872,108 (GRCm39)	R378*	probably null	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lama3	C	A	18: 12,535,906 (GRCm39)	T204N	possibly damaging	Het
Lama5	A	G	2: 179,828,678 (GRCm39)	C2090R	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mipep	T	C	14: 61,024,829 (GRCm39)	V90A	probably damaging	Het
Myo3a	A	T	2: 22,250,342 (GRCm39)	I70F	probably damaging	Het
Napa	A	G	7: 15,848,134 (GRCm39)	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,451,489 (GRCm39)	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,409,288 (GRCm39)	V13E	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nptx2	G	C	5: 144,492,216 (GRCm39)	G331A	probably damaging	Het
Or2q1	A	G	6: 42,794,431 (GRCm39)	T9A	possibly damaging	Het
Or4c122	T	C	2: 89,079,874 (GRCm39)	I55V	probably damaging	Het
Or5h17	T	C	16: 58,820,783 (GRCm39)	L245P	possibly damaging	Het
Or7g34	T	C	9: 19,478,618 (GRCm39)	T18A	probably benign	Het
Parp14	T	C	16: 35,678,904 (GRCm39)	T355A	probably benign	Het
Pcdh12	T	C	18: 38,417,039 (GRCm39)	T29A	probably damaging	Het
Pced1b	T	A	15: 97,282,505 (GRCm39)	C181*	probably null	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,537,737 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,597,972 (GRCm39)	K178N	probably damaging	Het
Prkag1	T	C	15: 98,712,433 (GRCm39)	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,337,982 (GRCm39)	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rassf9	A	G	10: 102,380,806 (GRCm39)	T63A	probably benign	Het
Rdh11	G	T	12: 79,222,996 (GRCm39)	Q292K	probably benign	Het
Rere	C	A	4: 150,697,018 (GRCm39)		probably benign	Het
Rgs18	G	T	1: 144,629,629 (GRCm39)	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,318,839 (GRCm39)	N1099S	probably benign	Het
Ros1	T	C	10: 52,004,651 (GRCm39)	I969V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rrp12	C	T	19: 41,879,533 (GRCm39)	V174I	probably benign	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Sbk3	A	G	7: 4,970,415 (GRCm39)	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Sec23ip	G	A	7: 128,364,185 (GRCm39)	V488I	probably benign	Het
Serpine3	T	C	14: 62,910,459 (GRCm39)	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,331,896 (GRCm39)	T512A	possibly damaging	Het
Slc49a4	T	C	16: 35,518,309 (GRCm39)	D468G	probably benign	Het
Smpd4	T	C	16: 17,444,729 (GRCm39)	Y118H	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,241,534 (GRCm39)	V120I	probably benign	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Utp20	T	C	10: 88,621,865 (GRCm39)	D1136G	probably benign	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Yars1	T	G	4: 129,101,716 (GRCm39)		probably null	Het
Zfp472	A	G	17: 33,196,988 (GRCm39)	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het

Other mutations in Pick1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Pick1	APN	15	79,131,457 (GRCm39)	splice site	probably benign
IGL03137:Pick1	APN	15	79,129,501 (GRCm39)	missense	possibly damaging	0.61
IGL03366:Pick1	APN	15	79,125,481 (GRCm39)	missense	probably damaging	0.97
FR4976:Pick1	UTSW	15	79,140,146 (GRCm39)	frame shift	probably null
R1590:Pick1	UTSW	15	79,129,501 (GRCm39)	missense	probably benign	0.40
R2114:Pick1	UTSW	15	79,139,781 (GRCm39)	unclassified	probably benign
R2219:Pick1	UTSW	15	79,123,899 (GRCm39)	missense	probably damaging	1.00
R4624:Pick1	UTSW	15	79,130,666 (GRCm39)	missense	probably damaging	1.00
R4646:Pick1	UTSW	15	79,133,137 (GRCm39)	missense	probably benign	0.26
R4796:Pick1	UTSW	15	79,139,810 (GRCm39)	unclassified	probably benign
R5420:Pick1	UTSW	15	79,133,040 (GRCm39)	missense	probably benign	0.01
R5869:Pick1	UTSW	15	79,133,095 (GRCm39)	missense	probably benign	0.02
R6047:Pick1	UTSW	15	79,139,895 (GRCm39)	unclassified	probably benign
R6128:Pick1	UTSW	15	79,123,896 (GRCm39)	missense	probably damaging	0.98
R6291:Pick1	UTSW	15	79,135,928 (GRCm39)	splice site	probably null
R7042:Pick1	UTSW	15	79,132,965 (GRCm39)	missense	probably damaging	0.98
R7564:Pick1	UTSW	15	79,139,781 (GRCm39)	missense	unknown
R8211:Pick1	UTSW	15	79,132,930 (GRCm39)	missense	probably damaging	1.00
R8870:Pick1	UTSW	15	79,140,107 (GRCm39)	missense	unknown
R9354:Pick1	UTSW	15	79,123,848 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGGTTTCTATTCACAAAACCACAC -3'
(R):5'- GGGTGAGATCTAAGATGCCCATC -3'

Sequencing Primer
(F):5'- ACTATTAAGCCTTAACCCTGGG -3'
(R):5'- GAGATCTAAGATGCCCATCACTAATG -3'

Posted On

2014-09-18