Incidental Mutation 'R0882:Ctla4'
ID 80598
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 039049-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R0882 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 60948184-60954991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60948397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 23 (V23A)
Ref Sequence ENSEMBL: ENSMUSP00000095327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027164] [ENSMUST00000097720]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027164
AA Change: V23A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027164
Gene: ENSMUSG00000026011
AA Change: V23A

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 benign
Transcript: ENSMUST00000097720
AA Change: V23A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095327
Gene: ENSMUSG00000026011
AA Change: V23A

DomainStartEndE-ValueType
IG 43 152 2.72e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124816
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,024,130 (GRCm39) T174M probably damaging Het
Adh1 A T 3: 137,992,558 (GRCm39) I225F possibly damaging Het
Agap2 A G 10: 126,923,319 (GRCm39) K691E unknown Het
Alcam T C 16: 52,073,573 (GRCm39) D564G possibly damaging Het
Apbb2 T A 5: 66,557,598 (GRCm39) T289S probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cep68 T C 11: 20,189,393 (GRCm39) I540V probably benign Het
Dnah7b T A 1: 46,379,292 (GRCm39) D3675E probably benign Het
Fam209 G T 2: 172,314,555 (GRCm39) V15F probably benign Het
Fat3 A G 9: 15,942,664 (GRCm39) V1236A possibly damaging Het
Gabbr2 A G 4: 46,718,904 (GRCm39) I38T probably damaging Het
Gdpd4 T C 7: 97,615,505 (GRCm39) I110T probably damaging Het
Gm4841 C T 18: 60,402,852 (GRCm39) A414T possibly damaging Het
Gtf3c4 A T 2: 28,724,782 (GRCm39) Y176N probably damaging Het
H2bc18 G A 3: 96,177,060 (GRCm39) probably null Het
Igsf9b T C 9: 27,230,612 (GRCm39) Y264H probably damaging Het
Itih4 A T 14: 30,614,231 (GRCm39) N394Y probably damaging Het
Kmt2c T C 5: 25,500,605 (GRCm39) T3815A possibly damaging Het
Lrwd1 T C 5: 136,152,254 (GRCm39) probably null Het
Mc3r A G 2: 172,091,711 (GRCm39) K311R probably benign Het
Myb T C 10: 21,032,259 (GRCm39) T41A possibly damaging Het
Nfix T C 8: 85,454,554 (GRCm39) D201G probably damaging Het
Nos1 T C 5: 118,085,512 (GRCm39) V1280A probably damaging Het
Or51a5 A C 7: 102,771,782 (GRCm39) S66A probably benign Het
Or8a1b T C 9: 37,623,168 (GRCm39) M136V probably benign Het
Pcdh15 A G 10: 74,178,488 (GRCm39) T582A probably damaging Het
Pcdhb12 C A 18: 37,570,375 (GRCm39) A507E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pkp2 C A 16: 16,087,575 (GRCm39) A753E probably damaging Het
Plekha3 G A 2: 76,513,142 (GRCm39) V76I possibly damaging Het
Pnpla6 T C 8: 3,567,081 (GRCm39) L33P probably damaging Het
Pot1b C T 17: 55,973,400 (GRCm39) probably benign Het
Prr5l T C 2: 101,588,886 (GRCm39) E88G possibly damaging Het
Prss57 G A 10: 79,621,699 (GRCm39) H97Y probably damaging Het
Rttn C T 18: 88,991,813 (GRCm39) Q131* probably null Het
Scaf11 G T 15: 96,316,176 (GRCm39) S1129R possibly damaging Het
Slc25a20 T A 9: 108,559,189 (GRCm39) M185K possibly damaging Het
Sorbs3 T A 14: 70,445,021 (GRCm39) E19V probably damaging Het
Srgap2 A T 1: 131,217,253 (GRCm39) C1020S probably benign Het
Thoc2l T C 5: 104,666,875 (GRCm39) S466P probably benign Het
Tmem109 T C 19: 10,849,205 (GRCm39) R217G possibly damaging Het
Trio A T 15: 27,732,980 (GRCm39) I2967N probably damaging Het
Vars2 T C 17: 35,968,191 (GRCm39) E899G probably benign Het
Vmn2r109 A G 17: 20,774,842 (GRCm39) probably benign Het
Vps53 A G 11: 75,973,485 (GRCm39) F170L probably damaging Het
Zc2hc1a G A 3: 7,591,422 (GRCm39) S149N possibly damaging Het
Zfp820 A G 17: 22,042,817 (GRCm39) probably benign Het
Zhx3 A C 2: 160,622,629 (GRCm39) F513V 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
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
R9410:Ctla4 UTSW 1 60,951,911 (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'- CGTCTTTACGACGTAACAGCTAAACCC -3'
(R):5'- GCAGTGACAAAGAACTTGTTCTCCCC -3'

Sequencing Primer
(F):5'- CAAAAAGGCTCTCTGTTCAGGTG -3'
(R):5'- CCATGTTCCAGAAGTCTCCA -3'
Posted On 2013-11-07