Incidental Mutation 'R1130:Srsf2'
ID 98045
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 039203-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1130 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 116740727-116743920 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 116743009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021173] [ENSMUST00000092404] [ENSMUST00000106363] [ENSMUST00000106365] [ENSMUST00000106370] [ENSMUST00000136914] [ENSMUST00000153084] [ENSMUST00000143184] [ENSMUST00000136012] [ENSMUST00000139954] [ENSMUST00000190993]
AlphaFold Q62093
Predicted Effect probably benign
Transcript: ENSMUST00000021173
SMART Domains Protein: ENSMUSP00000021173
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000092404
AA Change: S171P
SMART Domains Protein: ENSMUSP00000090059
Gene: ENSMUSG00000034120
AA Change: S171P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:UNC-93 14 92 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106365
SMART Domains Protein: ENSMUSP00000101973
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106370
SMART Domains Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Methyltransf_16 48 203 9.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126661
Predicted Effect unknown
Transcript: ENSMUST00000136914
AA Change: S171P
SMART Domains Protein: ENSMUSP00000120086
Gene: ENSMUSG00000034120
AA Change: S171P

DomainStartEndE-ValueType
RRM 15 88 1.79e-25 SMART
low complexity region 101 213 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177429
Predicted Effect probably benign
Transcript: ENSMUST00000132593
Predicted Effect probably benign
Transcript: ENSMUST00000153084
SMART Domains Protein: ENSMUSP00000123368
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000143184
SMART Domains Protein: ENSMUSP00000119131
Gene: ENSMUSG00000090266

DomainStartEndE-ValueType
Pfam:Methyltransf_16 1 82 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140869
Predicted Effect probably benign
Transcript: ENSMUST00000136012
SMART Domains Protein: ENSMUSP00000118203
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139954
SMART Domains Protein: ENSMUSP00000118112
Gene: ENSMUSG00000020818

DomainStartEndE-ValueType
Pfam:UNC-93 14 91 7.9e-26 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000190993
AA Change: S171P
SMART Domains Protein: ENSMUSP00000140016
Gene: ENSMUSG00000034120
AA Change: S171P

DomainStartEndE-ValueType
RRM 15 88 1.79e-25 SMART
low complexity region 101 213 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,943,561 (GRCm39) H58Y probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Armc2 T C 10: 41,887,830 (GRCm39) D51G possibly damaging Het
Aspm A T 1: 139,405,572 (GRCm39) K1486N possibly damaging Het
Aurka A T 2: 172,199,178 (GRCm39) probably null Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cldn20 T C 17: 3,583,243 (GRCm39) Y139H probably damaging Het
Defb19 C A 2: 152,418,109 (GRCm39) E76* probably null Het
Fcho2 A T 13: 98,884,797 (GRCm39) D423E probably damaging Het
Frem1 T G 4: 82,834,865 (GRCm39) probably null Het
Gaa C T 11: 119,165,509 (GRCm39) T333M probably damaging Het
Gm9945 T A 11: 53,371,345 (GRCm39) probably benign Het
Gml2 G A 15: 74,693,195 (GRCm39) C66Y probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnh2 G A 5: 24,536,823 (GRCm39) R254* probably null Het
Megf10 T C 18: 57,395,078 (GRCm39) V480A probably benign Het
Nrde2 A T 12: 100,091,929 (GRCm39) M1152K probably damaging Het
Ociad1 T C 5: 73,451,675 (GRCm39) S15P probably benign Het
Ptprj A G 2: 90,283,765 (GRCm39) V803A probably damaging Het
Rxylt1 T C 10: 121,931,847 (GRCm39) I109V possibly damaging Het
Skint7 T C 4: 111,841,355 (GRCm39) I265T probably benign Het
Tac2 A G 10: 127,565,371 (GRCm39) N108D possibly damaging Het
Other mutations in Srsf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6615:Srsf2 UTSW 11 116,743,905 (GRCm39) splice site probably null
R7417:Srsf2 UTSW 11 116,743,727 (GRCm39) missense probably damaging 0.99
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'- GTCTCAGATTCCCGCAGACATTACC -3'
(R):5'- CTTCGTCCGGTTCCACGACAAG -3'

Sequencing Primer
(F):5'- CCGCAGACATTACCATTTTCTTAG -3'
(R):5'- CAGATAATggcggcgggg -3'
Posted On 2014-01-05