Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Srsf2'

575400

Institutional Source

Beutler Lab

Gene Symbol

Srsf2

Ensembl Gene

ENSMUSG00000034120

Gene Name

serine and arginine-rich splicing factor 2

Synonyms

Sfrs2, MRF-1, Sfrs10, D11Wsu175e, SC35

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116740727-116743920 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116743727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 10 (V10E)

Ref Sequence

ENSEMBL: ENSMUSP00000090059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000092404] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000106370] [ENSMUST00000136012] [ENSMUST00000136914] [ENSMUST00000139954] [ENSMUST00000143184] [ENSMUST00000153084] [ENSMUST00000190993]

AlphaFold

Q62093

Predicted Effect

probably benign
Transcript: ENSMUST00000021173

SMART Domains

Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	166	6.5e-56	PFAM
transmembrane domain	173	190	N/A	INTRINSIC
transmembrane domain	239	261	N/A	INTRINSIC
transmembrane domain	276	298	N/A	INTRINSIC
transmembrane domain	305	327	N/A	INTRINSIC
transmembrane domain	410	432	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092404
AA Change: V10E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090059
Gene: ENSMUSG00000034120
AA Change: V10E

Domain	Start	End	E-Value	Type
RRM	15	88	1.79e-25	SMART
low complexity region	101	213	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106363

SMART Domains

Protein: ENSMUSP00000101971
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	92	6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106365

SMART Domains

Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106370

SMART Domains

Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Methyltransf_16	48	203	9.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132593

Predicted Effect

probably benign
Transcript: ENSMUST00000136012

SMART Domains

Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000136914
AA Change: V10E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120086
Gene: ENSMUSG00000034120
AA Change: V10E

Domain	Start	End	E-Value	Type
RRM	15	88	1.79e-25	SMART
low complexity region	101	213	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139954

SMART Domains

Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	91	7.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140869

Predicted Effect

probably benign
Transcript: ENSMUST00000143184

SMART Domains

Protein: ENSMUSP00000119131
Gene: ENSMUSG00000090266

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	1	82	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153084

SMART Domains

Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818

Domain	Start	End	E-Value	Type
Pfam:UNC-93	14	115	7.4e-33	PFAM
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC
transmembrane domain	358	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176834

Predicted Effect

probably damaging
Transcript: ENSMUST00000190993
AA Change: V10E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140016
Gene: ENSMUSG00000034120
AA Change: V10E

Domain	Start	End	E-Value	Type
RRM	15	88	1.79e-25	SMART
low complexity region	101	213	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous mutants are embryonic lethal. Deaths occur prior to E7.5. Cre induced inactivation of this pre-mRNA splicing factor in the thymus impairs T-cell maturation. Inactivation in ventricular cardiomyocytes results in dilated cardiomyopathy without gross changes in cardiomyocyte development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Sqor	A	T	2: 122,629,450 (GRCm39)	T103S	probably benign	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	Het

Other mutations in Srsf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Srsf2	APN	11	116,743,096 (GRCm39)	unclassified	probably benign
R0636:Srsf2	UTSW	11	116,742,904 (GRCm39)	missense	probably benign	0.23
R1130:Srsf2	UTSW	11	116,743,009 (GRCm39)	unclassified	probably benign
R6615:Srsf2	UTSW	11	116,743,905 (GRCm39)	splice site	probably null
R7663:Srsf2	UTSW	11	116,743,120 (GRCm39)	missense	unknown
Z1177:Srsf2	UTSW	11	116,743,484 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GTGCTCCGCGTACCTTTGTG -3'
(R):5'- TAGTTGCTGCTCAGGCGTC -3'

Sequencing Primer
(F):5'- TGGCGTCCATGGCGTCTTC -3'
(R):5'- TCAGGCGTCCGTCAGGTTC -3'

Posted On

2019-10-07