Mutagenetix > Incidental Mutation

Incidental Mutation 'R7564:Pick1'

585332

Institutional Source

Beutler Lab

Gene Symbol

Pick1

Ensembl Gene

ENSMUSG00000116121

Gene Name

protein interacting with C kinase 1

Synonyms

Prkcabp

MMRRC Submission

045656-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R7564 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79113373-79133666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79139781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 360 (V360A)

Ref Sequence

ENSEMBL: ENSMUSP00000061125 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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: V360A

SMART Domains

Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: V360A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (56/57)

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
Acad11	G	A	9: 104,000,288 (GRCm39)	E681K	possibly damaging	Het
Accsl	A	T	2: 93,688,501 (GRCm39)	M411K	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Bag4	G	A	8: 26,267,507 (GRCm39)	R108*	probably null	Het
Cpa1	C	T	6: 30,641,767 (GRCm39)	T197M	probably damaging	Het
Cyb561d2	A	G	9: 107,418,218 (GRCm39)	V50A	probably benign	Het
Dact1	A	G	12: 71,365,325 (GRCm39)	D665G	probably damaging	Het
Dcaf4	G	A	12: 83,588,297 (GRCm39)	V499I	probably damaging	Het
Depdc5	T	G	5: 33,058,854 (GRCm39)	I274M	probably damaging	Het
Dnah3	T	A	7: 119,570,817 (GRCm39)	Q2219L	probably benign	Het
Ect2	A	T	3: 27,170,272 (GRCm39)		probably benign	Het
Efcab14	C	A	4: 115,617,159 (GRCm39)	S289R	probably benign	Het
Fmn2	T	C	1: 174,437,140 (GRCm39)	L1037P	unknown	Het
Fsip2	G	A	2: 82,819,361 (GRCm39)	M5031I	probably benign	Het
Gm19410	A	G	8: 36,274,151 (GRCm39)	M1435V	probably benign	Het
Gm8005	G	T	14: 42,261,499 (GRCm39)	Q44K		Het
Hdgfl2	T	A	17: 56,406,860 (GRCm39)	D591E	unknown	Het
Hk3	C	A	13: 55,159,209 (GRCm39)	C449F	probably damaging	Het
Hmcn1	T	C	1: 150,531,586 (GRCm39)	M3228V	probably benign	Het
Kifap3	C	T	1: 163,743,337 (GRCm39)	R773C	probably damaging	Het
Kndc1	T	C	7: 139,500,612 (GRCm39)	V659A	probably benign	Het
Lhb	C	T	7: 45,071,101 (GRCm39)	R109C	probably damaging	Het
Lnpep	A	G	17: 17,798,854 (GRCm39)	I267T	probably benign	Het
Lypla1	T	A	1: 4,878,590 (GRCm39)		probably null	Het
Map3k21	T	C	8: 126,654,447 (GRCm39)		probably null	Het
Mapkbp1	A	G	2: 119,844,232 (GRCm39)	T319A	probably benign	Het
Mms19	T	C	19: 41,935,455 (GRCm39)	T854A	probably benign	Het
Mphosph8	A	G	14: 56,911,495 (GRCm39)	T173A	probably benign	Het
Mtcl1	C	T	17: 66,678,322 (GRCm39)	R668H	probably benign	Het
Myo5b	G	A	18: 74,767,582 (GRCm39)	E297K	possibly damaging	Het
Nrg2	A	T	18: 36,157,449 (GRCm39)	L412Q	probably damaging	Het
Nrtn	T	C	17: 57,058,473 (GRCm39)	D176G	probably damaging	Het
Nrxn1	G	T	17: 90,670,334 (GRCm39)	Q1134K	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or51t4	C	T	7: 102,598,473 (GRCm39)	P267L	probably damaging	Het
Pigr	T	A	1: 130,769,403 (GRCm39)	N71K	possibly damaging	Het
Ppox	T	C	1: 171,107,765 (GRCm39)	N96S	probably benign	Het
Pramel29	C	A	4: 143,939,525 (GRCm39)	C4F	probably damaging	Het
Qrfprl	G	T	6: 65,429,891 (GRCm39)	E196*	probably null	Het
Rasa1	T	C	13: 85,376,827 (GRCm39)	T603A	probably benign	Het
Rhd	T	C	4: 134,603,770 (GRCm39)	L97P	probably damaging	Het
Sec61a2	T	C	2: 5,887,415 (GRCm39)	I147V	probably benign	Het
Sh3bp1	C	T	15: 78,795,760 (GRCm39)	P630S	probably damaging	Het
Sh3d21	T	C	4: 126,044,937 (GRCm39)	T581A	probably benign	Het
Slc36a2	A	G	11: 55,053,498 (GRCm39)	I380T	probably benign	Het
Slc36a4	T	A	9: 15,638,108 (GRCm39)	V178D	probably damaging	Het
Smad7	C	A	18: 75,526,906 (GRCm39)	L251I	probably benign	Het
Sspo	G	A	6: 48,426,434 (GRCm39)	S151N	probably benign	Het
St3gal4	C	T	9: 34,963,549 (GRCm39)	R253Q	probably benign	Het
Trappc14	C	A	5: 138,261,104 (GRCm39)		probably null	Het
Ttbk1	T	C	17: 46,787,857 (GRCm39)	I242V	possibly damaging	Het
Ttn	G	A	2: 76,798,864 (GRCm39)	A470V	unknown	Het
Unc13b	T	C	4: 43,091,258 (GRCm39)	V28A	probably damaging	Het
Vmn1r149	A	G	7: 22,137,530 (GRCm39)	V42A	possibly damaging	Het
Zbtb21	A	T	16: 97,752,740 (GRCm39)	C514*	probably null	Het
Zfp236	A	T	18: 82,662,366 (GRCm39)	C570*	probably null	Het
Zfp277	T	A	12: 40,379,594 (GRCm39)	R313S	probably damaging	Het
Zfp329	A	T	7: 12,544,967 (GRCm39)	C186S	probably damaging	Het
Zscan4-ps2	A	G	7: 11,248,954 (GRCm39)		probably benign	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
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
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'- GGGTGAGATCTAAGATGCCC -3'

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

Posted On

2019-10-17