Mutagenetix > Incidental Mutations

Incidental Mutation 'R6364:Srpk2'

513394

Institutional Source

Beutler Lab

Gene Symbol

Srpk2

Ensembl Gene

ENSMUSG00000062604

Gene Name

serine/arginine-rich protein specific kinase 2

Synonyms

WBP6, mSRPK2

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_009274.2; MGI:1201408

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6364 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23503264-23684617 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23540467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 164 (F164L)

Ref Sequence

ENSEMBL: ENSMUSP00000085734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088392] [ENSMUST00000196388] [ENSMUST00000196929]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000088392
AA Change: F164L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: F164L

Domain	Start	End	E-Value	Type
low complexity region	5	46	N/A	INTRINSIC
Pfam:Pkinase	79	228	1.3e-22	PFAM
Pfam:Pkinase_Tyr	79	228	1e-9	PFAM
coiled coil region	263	314	N/A	INTRINSIC
coiled coil region	339	373	N/A	INTRINSIC
low complexity region	393	406	N/A	INTRINSIC
Pfam:Pkinase	506	680	1.9e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196388
AA Change: F66L

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143453
Gene: ENSMUSG00000062604
AA Change: F66L

Domain	Start	End	E-Value	Type
S_TKc	3	129	7.2e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196929
AA Change: F66L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604
AA Change: F66L

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	131	2.6e-8	PFAM
Pfam:Pkinase	2	130	2.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200173

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

99% (69/70)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal phenotype. [provided by MGI curators]

Allele List at MGI

All alleles(39) : Targeted(3) Gene trapped(36)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,721,814	Y234C	possibly damaging	Het
Als2cr12	G	T	1: 58,658,372	A403D	probably damaging	Het
Ambra1	C	A	2: 91,773,316	H548Q	possibly damaging	Het
Ap3d1	T	C	10: 80,710,494		probably null	Het
Apol11b	A	G	15: 77,638,058	V13A	possibly damaging	Het
Arhgdib	C	T	6: 136,932,255		probably null	Het
B3galt1	T	A	2: 68,118,672	S244T	probably damaging	Het
Bace2	A	G	16: 97,413,433	I274V	probably benign	Het
Bfsp2	A	T	9: 103,448,628	V272D	probably damaging	Het
Blm	A	T	7: 80,494,526	C782*	probably null	Het
Cfi	G	A	3: 129,872,846	S406N	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	A	7: 25,272,823	H660N	possibly damaging	Het
Cops3	A	G	11: 59,835,404		probably benign	Het
Dlec1	G	A	9: 119,121,871	V502I	possibly damaging	Het
Epop	A	G	11: 97,628,687	S199P	probably benign	Het
Evi5	G	T	5: 107,842,113	P80Q	probably damaging	Het
Faf1	T	C	4: 109,961,800	V623A	possibly damaging	Het
Fam129c	G	A	8: 71,599,089	G23S	probably benign	Het
Fam83c	T	C	2: 155,834,523	D109G	probably damaging	Het
Fam83d	T	C	2: 158,783,259		probably null	Het
Foxn3	T	C	12: 99,388,693	N71D	probably benign	Het
Gm7298	A	G	6: 121,779,443	R1016G	possibly damaging	Het
Grin2d	T	C	7: 45,858,454	E396G	possibly damaging	Het
Htra2	C	A	6: 83,053,046	V311F	probably damaging	Het
Kif6	A	T	17: 49,620,623	T33S	probably benign	Het
Kmt2c	T	C	5: 25,309,636	I3070V	probably null	Het
Krtap5-2	A	T	7: 142,175,063	C293*	probably null	Het
Lrp3	T	A	7: 35,203,709	D404V	probably benign	Het
Mc2r	T	G	18: 68,407,536	I229L	probably benign	Het
Mtnr1b	A	G	9: 15,863,004	M253T	possibly damaging	Het
Nfat5	A	G	8: 107,368,277	N531S	probably benign	Het
Npr2	T	A	4: 43,643,622	I550N	probably damaging	Het
Npy6r	T	C	18: 44,276,511	I333T	possibly damaging	Het
Nup88	C	T	11: 70,947,786	R468Q	probably benign	Het
Nup98	G	A	7: 102,176,315	T422I	probably damaging	Het
Olfr433	T	A	1: 174,042,212	H87Q	possibly damaging	Het
Oraov1	A	G	7: 144,919,268	D105G	probably benign	Het
Otud4	A	G	8: 79,646,341	N96S	probably damaging	Het
Paqr6	T	C	3: 88,365,958	F86L	probably damaging	Het
Ppp4r3b	A	T	11: 29,188,035	T90S	probably benign	Het
Ptbp2	A	T	3: 119,740,442	N23K	probably damaging	Het
Ralgapb	G	T	2: 158,462,109	G596V	probably damaging	Het
Rdm1	G	A	11: 101,630,242	R94H	probably benign	Het
Rergl	A	T	6: 139,500,748	F28I	probably damaging	Het
Rif1	G	T	2: 52,107,669	S1000I	probably damaging	Het
Rnf141	C	T	7: 110,821,309	A163T	possibly damaging	Het
Scaf4	G	A	16: 90,260,248	Q72*	probably null	Het
Sdk1	G	T	5: 141,962,709	S603I	probably benign	Het
Sdsl	T	C	5: 120,460,609	I147M	probably damaging	Het
Serpina6	T	C	12: 103,654,236	N85D	probably benign	Het
Serpinf2	A	G	11: 75,436,489	I204T	probably damaging	Het
Shank2	A	G	7: 144,410,409	S795G	probably benign	Het
Simc1	C	T	13: 54,524,600	Q254*	probably null	Het
Slc30a3	G	A	5: 31,088,739	P216S	possibly damaging	Het
Smim14	T	A	5: 65,453,296	I53F	probably benign	Het
Sp3	T	C	2: 72,970,941	T243A	probably benign	Het
Stard9	T	C	2: 120,713,429	F4403L	probably damaging	Het
Tbc1d30	T	C	10: 121,294,725	T267A	possibly damaging	Het
Tgm7	T	A	2: 121,096,397	R424*	probably null	Het
Tmbim6	T	C	15: 99,406,185	L113P	probably damaging	Het
Tmcc1	G	A	6: 116,043,761		probably benign	Het
Tomm7	A	G	5: 23,844,030	L15P	probably damaging	Het
Tpcn1	T	C	5: 120,553,810	Y263C	probably damaging	Het
Trim34b	T	C	7: 104,336,526	F456S	probably damaging	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r108	A	G	17: 20,470,998	I421T	probably benign	Het
Wdr43	A	G	17: 71,657,654	E676G	probably damaging	Het
Wdr60	A	T	12: 116,241,732	D412E	probably damaging	Het
Zcchc14	G	T	8: 121,604,859		probably benign	Het
Zfp64	C	A	2: 168,912,266	G25V	probably damaging	Het
Zswim8	C	A	14: 20,713,011	P326H	probably damaging	Het

Other mutations in Srpk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Srpk2	APN	5	23540379	missense	probably benign	0.10
IGL02057:Srpk2	APN	5	23518707	missense	probably damaging	0.99
IGL02217:Srpk2	APN	5	23545570	missense	probably damaging	1.00
IGL03115:Srpk2	APN	5	23524618	splice site	probably null
FR4737:Srpk2	UTSW	5	23545196	splice site	probably null
P0008:Srpk2	UTSW	5	23513978	missense	probably damaging	1.00
R0142:Srpk2	UTSW	5	23527930	missense	probably damaging	0.97
R0462:Srpk2	UTSW	5	23518426	missense	probably damaging	1.00
R0992:Srpk2	UTSW	5	23545543	missense	probably damaging	0.99
R1569:Srpk2	UTSW	5	23514026	missense	probably damaging	1.00
R1677:Srpk2	UTSW	5	23525750	splice site	probably null
R1696:Srpk2	UTSW	5	23548494	nonsense	probably null
R1752:Srpk2	UTSW	5	23528019	missense	probably damaging	1.00
R1862:Srpk2	UTSW	5	23524150	missense	probably benign	0.32
R1989:Srpk2	UTSW	5	23518423	missense	probably damaging	1.00
R2173:Srpk2	UTSW	5	23518615	splice site	probably null
R4096:Srpk2	UTSW	5	23540502	intron	probably benign
R4271:Srpk2	UTSW	5	23548515	missense	possibly damaging	0.95
R4894:Srpk2	UTSW	5	23545529	missense	probably damaging	1.00
R5043:Srpk2	UTSW	5	23524517	missense	probably benign
R5044:Srpk2	UTSW	5	23524392	missense	possibly damaging	0.91
R5309:Srpk2	UTSW	5	23525718	missense	probably damaging	0.97
R5478:Srpk2	UTSW	5	23524183	missense	possibly damaging	0.71
R5568:Srpk2	UTSW	5	23525699	missense	possibly damaging	0.73
R5665:Srpk2	UTSW	5	23518477	missense	probably damaging	0.99
R5678:Srpk2	UTSW	5	23524606	frame shift	probably null
R7201:Srpk2	UTSW	5	23507628	missense	possibly damaging	0.64
R7597:Srpk2	UTSW	5	23548519	missense	possibly damaging	0.96
R8251:Srpk2	UTSW	5	23524268	missense	probably benign
R8477:Srpk2	UTSW	5	23513988	missense	probably benign	0.03
R9348:Srpk2	UTSW	5	23514673	missense	probably damaging	0.98
RF035:Srpk2	UTSW	5	23525575	utr 3 prime	probably benign
RF042:Srpk2	UTSW	5	23525575	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAAAGGCAACCAAACTGG -3'
(R):5'- GCTAGGATGCATGCTCATCG -3'

Sequencing Primer
(F):5'- ACTGGCTACTAAGATAGGATTGC -3'
(R):5'- TAGGATGCATGCTCATCGTCTGC -3'

Posted On

2018-04-27