Mutagenetix > Incidental Mutation

Incidental Mutation 'R8821:Clasrp'

673040

Institutional Source

Beutler Lab

Gene Symbol

Clasrp

Ensembl Gene

ENSMUSG00000061028

Gene Name

CLK4-associating serine/arginine rich protein

Synonyms

SWAP2, Sfrs16, Srsf16

MMRRC Submission

068654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19314960-19338411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19320362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 432 (R432H)

Ref Sequence

ENSEMBL: ENSMUSP00000083205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086041] [ENSMUST00000207524] [ENSMUST00000207663] [ENSMUST00000207907] [ENSMUST00000208068]

AlphaFold

Q8CFC7

Predicted Effect

unknown
Transcript: ENSMUST00000086041
AA Change: R432H

SMART Domains

Protein: ENSMUSP00000083205
Gene: ENSMUSG00000061028
AA Change: R432H

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
DRY_EERY	39	171	1.28e-64	SMART
low complexity region	172	212	N/A	INTRINSIC
low complexity region	241	260	N/A	INTRINSIC
low complexity region	263	283	N/A	INTRINSIC
low complexity region	302	324	N/A	INTRINSIC
low complexity region	339	368	N/A	INTRINSIC
low complexity region	372	446	N/A	INTRINSIC
low complexity region	453	476	N/A	INTRINSIC
low complexity region	480	532	N/A	INTRINSIC
coiled coil region	574	630	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207524

Predicted Effect

probably benign
Transcript: ENSMUST00000207663

Predicted Effect

unknown
Transcript: ENSMUST00000207907
AA Change: R432H

Predicted Effect

unknown
Transcript: ENSMUST00000208068
AA Change: R432H

Meta Mutation Damage Score

0.1506

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: The protein encoded by this gene contains serine/arginine (SR) dipeptide repeat domains, and is thought to be involved in the regulation of alternative splicing. This protein is thought to interact with, and be phosphorylated by, Clk4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abca8a	A	T	11: 109,949,362 (GRCm39)	I927K	probably damaging	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Alyref	CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG	CCCGCG	11: 120,489,023 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Btbd18	A	G	2: 84,497,601 (GRCm39)	D413G	probably damaging	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Castor2	T	A	5: 134,164,092 (GRCm39)	V96E	possibly damaging	Het
Catsperg1	A	T	7: 28,904,361 (GRCm39)		probably benign	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Ckmt1	G	A	2: 121,191,302 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Col27a1	A	G	4: 63,143,148 (GRCm39)	T279A	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cpne5	T	C	17: 29,430,668 (GRCm39)	I81V	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Dcstamp	A	G	15: 39,618,185 (GRCm39)	H198R	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Dnah1	C	T	14: 31,018,455 (GRCm39)	A1392T	probably benign	Het
Dnah14	C	A	1: 181,619,569 (GRCm39)	Y3964*	probably null	Het
Dnah8	T	C	17: 31,013,712 (GRCm39)	S3818P	probably damaging	Het
Dnmt3b	T	A	2: 153,518,734 (GRCm39)	N632K	probably benign	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Dtd1	T	C	2: 144,459,261 (GRCm39)	L95P	probably benign	Het
Efhb	A	T	17: 53,707,772 (GRCm39)		probably benign	Het
Fam186b	T	A	15: 99,178,733 (GRCm39)	M198L	possibly damaging	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fan1	G	A	7: 64,004,249 (GRCm39)	P739L	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gm9195	C	T	14: 72,717,536 (GRCm39)	E266K	possibly damaging	Het
Hdac1-ps	T	A	17: 78,799,969 (GRCm39)	L320Q	probably damaging	Het
Helz	A	T	11: 107,525,919 (GRCm39)	M825L	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kcnrg	T	C	14: 61,844,981 (GRCm39)	V7A	possibly damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Lima1	T	A	15: 99,704,306 (GRCm39)	T288S	probably benign	Het
Lrrc37	A	T	11: 103,510,470 (GRCm39)	D499E	unknown	Het
Lrrc4c	A	T	2: 97,460,040 (GRCm39)	D222V	possibly damaging	Het
Mybpc3	T	A	2: 90,948,524 (GRCm39)	V4E	probably null	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Nell1	A	G	7: 50,476,097 (GRCm39)	S579G	probably damaging	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or2at4	A	G	7: 99,384,893 (GRCm39)	H181R	possibly damaging	Het
Or4a73	A	G	2: 89,420,880 (GRCm39)	I193T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Pih1d1	A	G	7: 44,806,196 (GRCm39)	D44G	possibly damaging	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Sp7	T	A	15: 102,267,227 (GRCm39)	H211L	possibly damaging	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem232	A	G	17: 65,743,367 (GRCm39)	L308P	probably damaging	Het
Tulp4	A	G	17: 6,189,409 (GRCm39)	N77S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zfp512b	T	C	2: 181,228,525 (GRCm39)	N738S	probably benign	Het

Other mutations in Clasrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02394:Clasrp	APN	7	19,337,179 (GRCm39)	missense	probably damaging	1.00
clarissa	UTSW	7	19,324,173 (GRCm39)	missense	possibly damaging	0.82
suet	UTSW	7	19,320,393 (GRCm39)	utr 3 prime	probably benign
R0518:Clasrp	UTSW	7	19,322,528 (GRCm39)	missense	probably benign	0.32
R0519:Clasrp	UTSW	7	19,318,089 (GRCm39)	utr 3 prime	probably benign
R0521:Clasrp	UTSW	7	19,322,528 (GRCm39)	missense	probably benign	0.32
R0626:Clasrp	UTSW	7	19,318,418 (GRCm39)	utr 3 prime	probably benign
R0826:Clasrp	UTSW	7	19,318,226 (GRCm39)	utr 3 prime	probably benign
R1918:Clasrp	UTSW	7	19,319,188 (GRCm39)	nonsense	probably null
R2044:Clasrp	UTSW	7	19,320,640 (GRCm39)	utr 3 prime	probably benign
R2256:Clasrp	UTSW	7	19,320,510 (GRCm39)	utr 3 prime	probably benign
R2257:Clasrp	UTSW	7	19,320,510 (GRCm39)	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2870:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2871:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R2940:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R3408:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R3691:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4168:Clasrp	UTSW	7	19,315,079 (GRCm39)	unclassified	probably benign
R4496:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4505:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4507:Clasrp	UTSW	7	19,319,165 (GRCm39)	utr 3 prime	probably benign
R4572:Clasrp	UTSW	7	19,318,389 (GRCm39)	splice site	probably null
R4753:Clasrp	UTSW	7	19,328,865 (GRCm39)	missense	probably damaging	1.00
R4871:Clasrp	UTSW	7	19,324,173 (GRCm39)	missense	possibly damaging	0.82
R4938:Clasrp	UTSW	7	19,318,703 (GRCm39)	splice site	probably null
R5538:Clasrp	UTSW	7	19,318,707 (GRCm39)	utr 3 prime	probably benign
R5582:Clasrp	UTSW	7	19,320,781 (GRCm39)	missense	probably damaging	0.97
R5615:Clasrp	UTSW	7	19,320,372 (GRCm39)	utr 3 prime	probably benign
R5794:Clasrp	UTSW	7	19,325,034 (GRCm39)	missense	probably damaging	0.99
R5944:Clasrp	UTSW	7	19,328,431 (GRCm39)	missense	probably damaging	1.00
R6102:Clasrp	UTSW	7	19,320,393 (GRCm39)	utr 3 prime	probably benign
R6171:Clasrp	UTSW	7	19,318,747 (GRCm39)	splice site	probably benign
R6485:Clasrp	UTSW	7	19,320,294 (GRCm39)	utr 3 prime	probably benign
R6600:Clasrp	UTSW	7	19,324,207 (GRCm39)	nonsense	probably null
R7383:Clasrp	UTSW	7	19,319,198 (GRCm39)	missense	unknown
R7719:Clasrp	UTSW	7	19,321,769 (GRCm39)	missense	probably damaging	0.99
R7750:Clasrp	UTSW	7	19,318,516 (GRCm39)	makesense	probably null
R7808:Clasrp	UTSW	7	19,322,671 (GRCm39)	splice site	probably null
R8192:Clasrp	UTSW	7	19,329,387 (GRCm39)	missense	possibly damaging	0.83
R8820:Clasrp	UTSW	7	19,320,362 (GRCm39)	missense	unknown
R8924:Clasrp	UTSW	7	19,318,232 (GRCm39)	missense	unknown
R9471:Clasrp	UTSW	7	19,319,172 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGGTGCTTCCCAAGAGAAG -3'
(R):5'- TCTAGGACAGTGTCGCTCAC -3'

Sequencing Primer
(F):5'- CTTCCCAAGAGAAGAGGGGCTG -3'
(R):5'- GTGTCGCTCACAAACCCTG -3'

Posted On

2021-04-30