Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Pick1'

346451

Institutional Source

Beutler Lab

Gene Symbol

Pick1

Ensembl Gene

ENSMUSG00000116121

Gene Name

protein interacting with C kinase 1

Synonyms

Prkcabp

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79113373-79133666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79130666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 250 (I250N)

Ref Sequence

ENSEMBL: ENSMUSP00000129468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018295] [ENSMUST00000039752] [ENSMUST00000053926] [ENSMUST00000163571] [ENSMUST00000166155]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000018295
AA Change: I250N

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

SMART Domains

Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206
AA Change: I250N

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: 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

probably damaging
Transcript: ENSMUST00000053926
AA Change: I250N

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

SMART Domains

Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: I250N

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 damaging
Transcript: ENSMUST00000163571
AA Change: I250N

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

SMART Domains

Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206
AA Change: I250N

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 damaging
Transcript: ENSMUST00000166155
AA Change: I250N

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

SMART Domains

Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206
AA Change: I250N

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: ENSMUST00000171581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230477

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tnnt1	G	A	7: 4,515,267 (GRCm39)		probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	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
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'- CTGGGTCCCTGTTCAACTCAAG -3'
(R):5'- TGGGAATGCAGAGTCTAGGC -3'

Sequencing Primer
(F):5'- CTCAAGACTGGTTTGAACACTG -3'
(R):5'- AATGCAGAGTCTAGGCTCCTC -3'

Posted On

2015-09-25