Mutagenetix > Incidental Mutation

Incidental Mutation 'R1590:Pick1'

177826

Institutional Source

Beutler Lab

Gene Symbol

Pick1

Ensembl Gene

ENSMUSG00000116121

Gene Name

protein interacting with C kinase 1

Synonyms

Prkcabp

MMRRC Submission

039627-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R1590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79113373-79133666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79129501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 169 (H169Y)

Ref Sequence

ENSEMBL: ENSMUSP00000061125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018295] [ENSMUST00000053926] [ENSMUST00000163571] [ENSMUST00000166155]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018295
AA Change: H169Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206
AA Change: H169Y

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	352	1.69e-122	SMART
low complexity region	380	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053926
AA Change: H169Y

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: H169Y

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

noncoding transcript
Transcript: ENSMUST00000113954

Predicted Effect

probably benign
Transcript: ENSMUST00000163571
AA Change: H169Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206
AA Change: H169Y

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	352	1.69e-122	SMART
low complexity region	380	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165609

Predicted Effect

probably benign
Transcript: ENSMUST00000166155
AA Change: H169Y

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206
AA Change: H169Y

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	352	1.69e-122	SMART
low complexity region	380	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172162

Meta Mutation Damage Score

0.0938

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.4%

Validation Efficiency

97% (69/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,322,370 (GRCm39)	S95P	probably damaging	Het
Ankmy1	T	C	1: 92,816,397 (GRCm39)	Y239C	probably damaging	Het
Atp12a	T	C	14: 56,617,512 (GRCm39)	S601P	probably damaging	Het
Atp1b3	T	C	9: 96,225,402 (GRCm39)	T89A	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Brme1	A	T	8: 84,893,715 (GRCm39)	Q294L	probably benign	Het
Btnl2	A	T	17: 34,580,114 (GRCm39)	I216F	possibly damaging	Het
Cabs1	A	T	5: 88,127,490 (GRCm39)	H47L	probably damaging	Het
Ccdc68	T	A	18: 70,073,251 (GRCm39)	D66E	probably benign	Het
Cdc42ep4	T	C	11: 113,619,392 (GRCm39)	D333G	possibly damaging	Het
Ckmt1	G	A	2: 121,194,003 (GRCm39)	D389N	possibly damaging	Het
Dact1	G	T	12: 71,364,349 (GRCm39)	V340F	probably benign	Het
Dnah2	T	C	11: 69,412,024 (GRCm39)	T246A	probably benign	Het
Dnah2	A	G	11: 69,313,580 (GRCm39)		probably null	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Efcab14	A	G	4: 115,613,746 (GRCm39)		probably benign	Het
Eprs1	A	G	1: 185,133,707 (GRCm39)	T795A	probably damaging	Het
Esp36	T	A	17: 38,728,202 (GRCm39)	E26D	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,678 (GRCm39)	T271A	probably benign	Het
Fsip2	A	T	2: 82,813,131 (GRCm39)	H3150L	probably benign	Het
Gimap7	G	A	6: 48,700,953 (GRCm39)	V180M	probably damaging	Het
Gtf3c1	T	C	7: 125,275,833 (GRCm39)	H531R	possibly damaging	Het
Herc1	T	A	9: 66,399,235 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,140,203 (GRCm39)	Y1061C	probably benign	Het
Ipo11	T	C	13: 107,023,225 (GRCm39)	Y420C	probably damaging	Het
Ipo8	T	C	6: 148,712,163 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl1	A	T	14: 96,606,072 (GRCm39)	M243K	probably damaging	Het
Lrp2	A	G	2: 69,297,107 (GRCm39)		probably null	Het
Mag	T	C	7: 30,601,277 (GRCm39)	E439G	probably damaging	Het
Mcm3ap	T	A	10: 76,332,375 (GRCm39)	F1231I	probably benign	Het
Mcmdc2	C	T	1: 9,986,780 (GRCm39)	Q204*	probably null	Het
Mpl	A	C	4: 118,301,221 (GRCm39)	L548R	probably damaging	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Myo18b	G	A	5: 113,023,132 (GRCm39)	Q87*	probably null	Het
Nfat5	A	G	8: 108,020,522 (GRCm39)	Y22C	probably damaging	Het
Nnt	T	A	13: 119,523,197 (GRCm39)	I232L	possibly damaging	Het
Or2a52	A	G	6: 43,144,846 (GRCm39)	N285D	probably damaging	Het
Or8g17	T	C	9: 38,930,253 (GRCm39)	N195D	probably benign	Het
Or9s13	G	A	1: 92,548,467 (GRCm39)	V280M	possibly damaging	Het
Parp2	C	T	14: 51,048,001 (GRCm39)	P76S	probably benign	Het
Prtg	T	A	9: 72,750,089 (GRCm39)	F164L	probably benign	Het
Pygb	A	G	2: 150,659,583 (GRCm39)	D422G	possibly damaging	Het
Samd9l	C	A	6: 3,375,761 (GRCm39)	C500F	probably benign	Het
Sbno1	A	C	5: 124,522,567 (GRCm39)	N1083K	possibly damaging	Het
Septin7	C	T	9: 25,188,900 (GRCm39)	S77F	probably damaging	Het
Slc25a44	A	G	3: 88,323,314 (GRCm39)	V264A	possibly damaging	Het
Slco1a8	C	T	6: 141,926,598 (GRCm39)	S576N	probably benign	Het
Slf2	G	T	19: 44,930,512 (GRCm39)	E530*	probably null	Het
Svs5	A	G	2: 164,079,578 (GRCm39)	S110P	possibly damaging	Het
Tmbim7	G	T	5: 3,715,338 (GRCm39)		probably null	Het
Tpgs2	T	C	18: 25,273,630 (GRCm39)	D177G	probably damaging	Het
Uba1y	T	A	Y: 826,893 (GRCm39)	F516L	probably damaging	Het
Ulk1	A	G	5: 110,943,632 (GRCm39)	V211A	probably damaging	Het
Vmn1r237	T	A	17: 21,534,301 (GRCm39)	I8N	probably damaging	Het
Vmn2r103	G	T	17: 20,014,496 (GRCm39)	M429I	probably benign	Het
Vmn2r112	T	C	17: 22,833,989 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,227,349 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	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
R2114:Pick1	UTSW	15	79,139,781 (GRCm39)	unclassified	probably benign
R2115: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'- TGCACTATCAGAGAGCCCCTAAGAG -3'
(R):5'- TGCTTCATGGTCACTGCCACAC -3'

Sequencing Primer
(F):5'- tggctgtcacatgcctg -3'
(R):5'- CATCAGACTGGGTCAGAGC -3'

Posted On

2014-04-24