Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Srpk2'

657298

Institutional Source

Beutler Lab

Gene Symbol

Srpk2

Ensembl Gene

ENSMUSG00000062604

Gene Name

serine/arginine-rich protein specific kinase 2

Synonyms

WBP6, mSRPK2

MMRRC Submission

067921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23708262-23889615 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23718986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 610 (S610T)

Ref Sequence

ENSEMBL: ENSMUSP00000085734 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088392
AA Change: S610T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
AA Change: S610T

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

probably benign
Transcript: ENSMUST00000196929

SMART Domains

Protein: ENSMUSP00000143216
Gene: ENSMUSG00000062604

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,505,212 (GRCm39)	D108G	probably null	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pank1	C	A	19: 34,856,055 (GRCm39)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2a	G	A	11: 69,626,312 (GRCm39)	P1613S	probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Rho	T	A	6: 115,912,346 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Tmem147	T	A	7: 30,427,656 (GRCm39)	M86L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	probably damaging	Het

Other mutations in Srpk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00697:Srpk2	APN	5	23,745,377 (GRCm39)	missense	probably benign	0.10
IGL02057:Srpk2	APN	5	23,723,705 (GRCm39)	missense	probably damaging	0.99
IGL02217:Srpk2	APN	5	23,750,568 (GRCm39)	missense	probably damaging	1.00
IGL03115:Srpk2	APN	5	23,729,616 (GRCm39)	splice site	probably null
FR4737:Srpk2	UTSW	5	23,750,194 (GRCm39)	splice site	probably null
P0008:Srpk2	UTSW	5	23,718,976 (GRCm39)	missense	probably damaging	1.00
R0142:Srpk2	UTSW	5	23,732,928 (GRCm39)	missense	probably damaging	0.97
R0462:Srpk2	UTSW	5	23,723,424 (GRCm39)	missense	probably damaging	1.00
R0992:Srpk2	UTSW	5	23,750,541 (GRCm39)	missense	probably damaging	0.99
R1569:Srpk2	UTSW	5	23,719,024 (GRCm39)	missense	probably damaging	1.00
R1677:Srpk2	UTSW	5	23,730,748 (GRCm39)	splice site	probably null
R1696:Srpk2	UTSW	5	23,753,492 (GRCm39)	nonsense	probably null
R1752:Srpk2	UTSW	5	23,733,017 (GRCm39)	missense	probably damaging	1.00
R1862:Srpk2	UTSW	5	23,729,148 (GRCm39)	missense	probably benign	0.32
R1989:Srpk2	UTSW	5	23,723,421 (GRCm39)	missense	probably damaging	1.00
R2173:Srpk2	UTSW	5	23,723,613 (GRCm39)	splice site	probably null
R4096:Srpk2	UTSW	5	23,745,500 (GRCm39)	intron	probably benign
R4271:Srpk2	UTSW	5	23,753,513 (GRCm39)	missense	possibly damaging	0.95
R4894:Srpk2	UTSW	5	23,750,527 (GRCm39)	missense	probably damaging	1.00
R5043:Srpk2	UTSW	5	23,729,515 (GRCm39)	missense	probably benign
R5044:Srpk2	UTSW	5	23,729,390 (GRCm39)	missense	possibly damaging	0.91
R5309:Srpk2	UTSW	5	23,730,716 (GRCm39)	missense	probably damaging	0.97
R5478:Srpk2	UTSW	5	23,729,181 (GRCm39)	missense	possibly damaging	0.71
R5568:Srpk2	UTSW	5	23,730,697 (GRCm39)	missense	possibly damaging	0.73
R5665:Srpk2	UTSW	5	23,723,475 (GRCm39)	missense	probably damaging	0.99
R5678:Srpk2	UTSW	5	23,729,604 (GRCm39)	frame shift	probably null
R6364:Srpk2	UTSW	5	23,745,465 (GRCm39)	missense	probably damaging	1.00
R7201:Srpk2	UTSW	5	23,712,626 (GRCm39)	missense	possibly damaging	0.64
R7597:Srpk2	UTSW	5	23,753,517 (GRCm39)	missense	possibly damaging	0.96
R8251:Srpk2	UTSW	5	23,729,266 (GRCm39)	missense	probably benign
R9348:Srpk2	UTSW	5	23,719,671 (GRCm39)	missense	probably damaging	0.98
R9606:Srpk2	UTSW	5	23,729,604 (GRCm39)	missense	probably benign
R9745:Srpk2	UTSW	5	23,880,874 (GRCm39)	intron	probably benign
RF035:Srpk2	UTSW	5	23,730,573 (GRCm39)	utr 3 prime	probably benign
RF042:Srpk2	UTSW	5	23,730,573 (GRCm39)	utr 3 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGTGTACAGAGTGACAACATC -3'
(R):5'- ATGGATGGGCTGCAGACATTG -3'

Sequencing Primer
(F):5'- CGGTCGGTCAGCATTTATCCAG -3'
(R):5'- CTGCAGACATTGTTGATTTGAATTG -3'

Posted On

2021-01-18