Incidental Mutation 'R9410:Ctla4'
ID 711730
Institutional Source Beutler Lab
Gene Symbol Ctla4
Ensembl Gene ENSMUSG00000026011
Gene Name cytotoxic T-lymphocyte-associated protein 4
Synonyms Ctla-4, Cd152, Ly-56
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R9410 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 60948184-60954991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60951911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 147 (T147S)
Ref Sequence ENSEMBL: ENSMUSP00000027164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027164] [ENSMUST00000097720]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027164
AA Change: T147S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027164
Gene: ENSMUSG00000026011
AA Change: T147S

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IG 43 152 2.72e-5 SMART
transmembrane domain 162 184 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097720
AA Change: T147S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095327
Gene: ENSMUSG00000026011
AA Change: T147S

DomainStartEndE-ValueType
IG 43 152 2.72e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the immunoglobulin superfamily, and encodes a protein that functions as a negative regulator of T-cell responses. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality at 3 to 4 weeks of age, decreased T cell numbers, abnormal T cell physiology, inflammation in mutliple organs, abnormal thymus morphology, and lymph node hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,869,703 (GRCm39) S772L probably benign Het
Ampd2 A T 3: 107,982,590 (GRCm39) V722E probably damaging Het
Appbp2 A T 11: 85,106,067 (GRCm39) F83Y probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
B020004C17Rik A T 14: 57,254,273 (GRCm39) Y132F possibly damaging Het
Cnr1 A G 4: 33,944,973 (GRCm39) T454A possibly damaging Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Ctsa T C 2: 164,677,101 (GRCm39) L152P probably damaging Het
Dgkh T C 14: 78,862,293 (GRCm39) T225A probably damaging Het
Dsg1a A T 18: 20,464,590 (GRCm39) I362F possibly damaging Het
Dzank1 C T 2: 144,324,050 (GRCm39) probably null Het
Ephb2 A T 4: 136,386,948 (GRCm39) C760S probably null Het
Exoc1 T A 5: 76,706,989 (GRCm39) V512E probably benign Het
Faiml C A 9: 99,111,587 (GRCm39) K157N probably benign Het
Fpr2 C T 17: 18,113,604 (GRCm39) T200I probably benign Het
Fscn3 C T 6: 28,430,432 (GRCm39) R201* probably null Het
Hcrtr1 A T 4: 130,029,514 (GRCm39) L189Q probably damaging Het
Igkv4-62 T C 6: 69,376,832 (GRCm39) T84A probably benign Het
Krtap2-4 C A 11: 99,505,437 (GRCm39) R58L possibly damaging Het
Meis1 C T 11: 18,833,987 (GRCm39) probably null Het
Mfsd2b T A 12: 4,915,747 (GRCm39) I422F probably damaging Het
Mre11a G A 9: 14,716,716 (GRCm39) V304M probably damaging Het
Myo5a A G 9: 75,023,496 (GRCm39) E19G probably damaging Het
Ndufa10 A T 1: 92,367,614 (GRCm39) Y339N probably damaging Het
Odad1 T C 7: 45,597,821 (GRCm39) V577A probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcdh15 CAGAGA CAGA 10: 74,481,663 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,615 (GRCm39) P949L probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Plin4 A G 17: 56,413,995 (GRCm39) V210A probably benign Het
Rnf150 T C 8: 83,762,722 (GRCm39) M319T possibly damaging Het
Rnf180 CGAGG CGAGGAGG 13: 105,386,781 (GRCm39) probably benign Het
Ruvbl2 G A 7: 45,071,618 (GRCm39) Q422* probably null Het
Shroom1 C T 11: 53,354,217 (GRCm39) R46C probably damaging Het
Slc22a2 T C 17: 12,805,732 (GRCm39) F161S probably damaging Het
Src T A 2: 157,311,676 (GRCm39) M468K probably damaging Het
Stag3 T C 5: 138,297,601 (GRCm39) F606L possibly damaging Het
Stau1 T C 2: 166,797,038 (GRCm39) T120A probably benign Het
Sulf2 A C 2: 165,936,444 (GRCm39) L174R Het
Sumf1 A C 6: 108,150,363 (GRCm39) F156C probably damaging Het
Tenm2 T A 11: 36,032,396 (GRCm39) D708V probably damaging Het
Tmprss12 A C 15: 100,190,622 (GRCm39) I331L possibly damaging Het
Tnfrsf10b T G 14: 70,010,849 (GRCm39) C85G probably damaging Het
Trav10d C A 14: 53,048,845 (GRCm39) Q79K probably benign Het
Vmn1r236 T A 17: 21,507,756 (GRCm39) Y291* probably null Het
Vmn2r115 T C 17: 23,578,915 (GRCm39) I796T possibly damaging Het
Zfp189 T A 4: 49,529,942 (GRCm39) H348Q possibly damaging Het
Zfp563 T A 17: 33,321,320 (GRCm39) L40Q probably damaging Het
Other mutations in Ctla4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03169:Ctla4 APN 1 60,953,764 (GRCm39) splice site probably benign
complementary UTSW 1 60,951,650 (GRCm39) missense probably damaging 1.00
Congruent UTSW 1 60,951,695 (GRCm39) missense probably damaging 1.00
zesty UTSW 1 60,951,872 (GRCm39) missense probably benign 0.02
R0882:Ctla4 UTSW 1 60,948,397 (GRCm39) missense probably benign
R2513:Ctla4 UTSW 1 60,951,723 (GRCm39) missense probably damaging 1.00
R6130:Ctla4 UTSW 1 60,951,650 (GRCm39) missense probably damaging 1.00
R6291:Ctla4 UTSW 1 60,951,837 (GRCm39) missense probably benign
R6450:Ctla4 UTSW 1 60,951,872 (GRCm39) missense probably benign 0.02
R7686:Ctla4 UTSW 1 60,951,752 (GRCm39) missense probably benign
R8464:Ctla4 UTSW 1 60,951,686 (GRCm39) missense probably damaging 0.98
R9167:Ctla4 UTSW 1 60,951,695 (GRCm39) missense probably damaging 1.00
X0023:Ctla4 UTSW 1 60,951,702 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGCCACGACATTCACAGAGAAG -3'
(R):5'- CCAAATGCGTTTCATTGCAATC -3'

Sequencing Primer
(F):5'- GAATACAGTGGGCTTCCTAGATTACC -3'
(R):5'- CGTTTCATTGCAATCAGAGTGATG -3'
Posted On 2022-05-16