Incidental Mutation 'R9167:Ctla4'
ID 696106
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 068946-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R9167 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 60948184-60954991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60951695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 75 (R75W)
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: R75W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027164
Gene: ENSMUSG00000026011
AA Change: R75W

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: R75W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095327
Gene: ENSMUSG00000026011
AA Change: R75W

DomainStartEndE-ValueType
IG 43 152 2.72e-5 SMART
Meta Mutation Damage Score 0.4508 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,952 (GRCm39) V815F possibly damaging Het
Abcb4 T A 5: 8,986,849 (GRCm39) L756* probably null Het
Acrbp T C 6: 125,039,942 (GRCm39) L515P probably damaging Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Atic T A 1: 71,604,040 (GRCm39) I201N probably benign Het
Avpr1b T C 1: 131,537,151 (GRCm39) S312P probably damaging Het
Cables1 T C 18: 12,039,029 (GRCm39) V314A possibly damaging Het
Cd22 G A 7: 30,575,430 (GRCm39) T204I probably benign Het
Cep250 A G 2: 155,828,920 (GRCm39) N95D Het
Cul7 A G 17: 46,966,623 (GRCm39) M649V probably benign Het
Ddx46 T A 13: 55,802,915 (GRCm39) V479E probably null Het
Dnah7a T C 1: 53,657,370 (GRCm39) N802S probably benign Het
Fmn2 G T 1: 174,331,056 (GRCm39) R482L unknown Het
Fyn T G 10: 39,402,811 (GRCm39) D194E probably benign Het
Hdac4 G A 1: 91,875,256 (GRCm39) T905M probably benign Het
Herc1 A G 9: 66,411,900 (GRCm39) I4707V possibly damaging Het
Hmgcs2 T C 3: 98,204,430 (GRCm39) I277T possibly damaging Het
Kcnj15 A G 16: 95,096,741 (GRCm39) D121G probably damaging Het
Kcnt2 A G 1: 140,506,200 (GRCm39) E899G probably benign Het
Kif16b A T 2: 142,542,840 (GRCm39) L152* probably null Het
Krt73 A G 15: 101,702,405 (GRCm39) V486A probably benign Het
Lrrc37a T A 11: 103,347,658 (GRCm39) K3012N unknown Het
Musk A T 4: 58,296,687 (GRCm39) I96F probably benign Het
Myrfl A G 10: 116,667,450 (GRCm39) V330A probably damaging Het
Nanp A T 2: 150,872,728 (GRCm39) C67S probably benign Het
Nlrp4e A G 7: 23,039,951 (GRCm39) N758S probably benign Het
Nrxn3 T A 12: 89,154,068 (GRCm39) V345D probably damaging Het
Nsun7 G A 5: 66,435,994 (GRCm39) V289I possibly damaging Het
Or52d1 A G 7: 103,756,426 (GRCm39) *313W probably null Het
Pde4a T C 9: 21,102,798 (GRCm39) S161P probably benign Het
Pom121l2 C T 13: 22,167,160 (GRCm39) A477V probably damaging Het
Rest GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC 5: 77,429,651 (GRCm39) probably benign Het
Ryr3 A T 2: 112,664,398 (GRCm39) I1651N probably damaging Het
Serpinb6e A G 13: 34,023,009 (GRCm39) F125L possibly damaging Het
Slc2a9 T A 5: 38,549,092 (GRCm39) T341S probably damaging Het
Taf3 A G 2: 9,945,804 (GRCm39) V600A probably benign Het
Tasor2 A G 13: 3,624,724 (GRCm39) V1742A probably benign Het
Tlx2 T A 6: 83,046,042 (GRCm39) K211* probably null Het
Tmem266 A G 9: 55,322,231 (GRCm39) D174G probably damaging Het
Tpm3 T A 3: 89,994,824 (GRCm39) I147N probably benign Het
Unc93a T C 17: 13,335,108 (GRCm39) K313E possibly damaging Het
Vmn1r9 A C 6: 57,048,138 (GRCm39) E71A probably benign Het
Vwa2 T A 19: 56,899,063 (GRCm39) D754E probably benign Het
Zfp677 T C 17: 21,613,460 (GRCm39) V18A 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
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'- AGTTCAAACCGTGGATGATCATG -3'
(R):5'- ACATAAATCTGCGTCCCGTTG -3'

Sequencing Primer
(F):5'- TGATCATGAGCCCACTAAGTG -3'
(R):5'- GTACATGAGTTCCACCTTGCAGAG -3'
Posted On 2022-02-07