Mutagenetix > Incidental Mutations

Incidental Mutation 'R2115:Pick1'

233069

Institutional Source

Beutler Lab

Gene Symbol

Pick1

Ensembl Gene

ENSMUSG00000116121

Gene Name

Synonyms

Prkcabp

MMRRC Submission

040119-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.664) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79229391-79256674 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 79255581 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127816 (fasta)

Gene Model

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

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
8030462N17Rik	T	C	18: 77,674,472	D48G	possibly damaging	Het
Aatk	T	C	11: 120,009,736	T1195A	probably benign	Het
Abca12	A	T	1: 71,244,771	N2547K	probably benign	Het
Abca16	A	C	7: 120,540,645	E1510A	probably damaging	Het
Adam5	A	G	8: 24,744,145		probably benign	Het
Akna	G	A	4: 63,395,160	P242L	probably benign	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,634,308	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Atxn1l	C	T	8: 109,732,608	A341T	probably benign	Het
Birc7	C	A	2: 180,930,849	Q138K	possibly damaging	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Chad	C	T	11: 94,568,226	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534		probably null	Het
Dirc2	T	C	16: 35,697,939	D468G	probably benign	Het
Dnah17	C	T	11: 118,119,802	C230Y	probably benign	Het
Dnmt3l	C	A	10: 78,063,296	L110I	probably damaging	Het
Dusp11	T	C	6: 85,958,669	D74G	probably damaging	Het
Eif3m	T	C	2: 105,006,796	T61A	probably damaging	Het
Esyt1	T	A	10: 128,522,104	D212V	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
F13a1	A	T	13: 36,988,857	I183N	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,661,503	N68K	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm1527	T	C	3: 28,917,949	L405P	probably benign	Het
Gm4981	T	C	10: 58,236,251	D47G	possibly damaging	Het
Heatr6	T	A	11: 83,757,455		probably benign	Het
Herc2	T	C	7: 56,185,828		probably benign	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,303,294	R60Q	probably benign	Het
Katnal2	T	C	18: 76,980,091	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,552,963	L755F	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
Kifc3	A	G	8: 95,108,713	Y178H	probably damaging	Het
Krit1	A	T	5: 3,822,108	R378*	probably null	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lama3	C	A	18: 12,402,849	T204N	possibly damaging	Het
Lama5	A	G	2: 180,186,885	C2090R	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mipep	T	C	14: 60,787,380	V90A	probably damaging	Het
Myo3a	A	T	2: 22,245,531	I70F	probably damaging	Het
Napa	A	G	7: 16,114,209	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,717,564	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,171,839	V13E	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Nptx2	G	C	5: 144,555,406	G331A	probably damaging	Het
Olfr1228	T	C	2: 89,249,530	I55V	probably damaging	Het
Olfr183	T	C	16: 59,000,420	L245P	possibly damaging	Het
Olfr450	A	G	6: 42,817,497	T9A	possibly damaging	Het
Olfr854	T	C	9: 19,567,322	T18A	probably benign	Het
Parp14	T	C	16: 35,858,534	T355A	probably benign	Het
Pcdh12	T	C	18: 38,283,986	T29A	probably damaging	Het
Pced1b	T	A	15: 97,384,624	C181*	probably null	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,718,987		probably benign	Het
Ppfia2	A	T	10: 106,762,111	K178N	probably damaging	Het
Prkag1	T	C	15: 98,814,552	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,447,156	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rassf9	A	G	10: 102,544,945	T63A	probably benign	Het
Rdh11	G	T	12: 79,176,222	Q292K	probably benign	Het
Rere	C	A	4: 150,612,561		probably benign	Het
Rgs18	G	T	1: 144,753,891	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,428,013	N1099S	probably benign	Het
Ros1	T	C	10: 52,128,555	I969V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rrp12	C	T	19: 41,891,094	V174I	probably benign	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Sbk3	A	G	7: 4,967,416	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Sec23ip	G	A	7: 128,762,461	V488I	probably benign	Het
Serpine3	T	C	14: 62,673,010	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,198,824	T512A	possibly damaging	Het
Smpd4	T	C	16: 17,626,865	Y118H	probably benign	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,212,053	V120I	probably benign	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Utp20	T	C	10: 88,786,003	D1136G	probably benign	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Yars	T	G	4: 129,207,923		probably null	Het
Zfp472	A	G	17: 32,978,014	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	probably damaging	Het

Other mutations in Pick1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Pick1	APN	15	79247257	splice site	probably benign
IGL03137:Pick1	APN	15	79245301	missense	possibly damaging	0.61
IGL03366:Pick1	APN	15	79241281	missense	probably damaging	0.97
FR4976:Pick1	UTSW	15	79255946	frame shift	probably null
R1590:Pick1	UTSW	15	79245301	missense	probably benign	0.40
R2114:Pick1	UTSW	15	79255581	unclassified	probably benign
R2219:Pick1	UTSW	15	79239699	missense	probably damaging	1.00
R4624:Pick1	UTSW	15	79246466	missense	probably damaging	1.00
R4646:Pick1	UTSW	15	79248937	missense	probably benign	0.26
R4796:Pick1	UTSW	15	79255610	unclassified	probably benign
R5420:Pick1	UTSW	15	79248840	missense	probably benign	0.01
R5869:Pick1	UTSW	15	79248895	missense	probably benign	0.02
R6047:Pick1	UTSW	15	79255695	unclassified	probably benign
R6128:Pick1	UTSW	15	79239696	missense	probably damaging	0.98
R6291:Pick1	UTSW	15	79251728	splice site	probably null
R7042:Pick1	UTSW	15	79248765	missense	probably damaging	0.98
R7564:Pick1	UTSW	15	79255581	missense	unknown
R8211:Pick1	UTSW	15	79248730	missense	probably damaging	1.00

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