Incidental Mutation 'R8464:Ctla4'
ID 656693
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 067908-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.307) question?
Stock # R8464 (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 G at 60951686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
Ref Sequence ENSEMBL: ENSMUSP00000095327 (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: T72A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027164
Gene: ENSMUSG00000026011
AA Change: T72A

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: T72A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095327
Gene: ENSMUSG00000026011
AA Change: T72A

DomainStartEndE-ValueType
IG 43 152 2.72e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,381,934 (GRCm39) R1344G possibly damaging Het
4933402J07Rik C A 8: 88,315,649 (GRCm39) D246E probably damaging Het
Appl1 T A 14: 26,674,985 (GRCm39) K191* probably null Het
Bptf T C 11: 107,022,168 (GRCm39) D194G probably benign Het
Cacna2d2 T C 9: 107,389,206 (GRCm39) V223A probably damaging Het
Ccdc13 T C 9: 121,649,824 (GRCm39) K208E probably damaging Het
Chd7 T C 4: 8,811,465 (GRCm39) V813A probably benign Het
Chst14 T C 2: 118,757,524 (GRCm39) V131A probably benign Het
Dnmt3a T C 12: 3,949,635 (GRCm39) S531P probably benign Het
Erbb4 T C 1: 68,348,785 (GRCm39) I531V probably benign Het
Fam151a T A 4: 106,605,102 (GRCm39) M488K probably benign Het
Foxa1 C A 12: 57,589,246 (GRCm39) A325S probably benign Het
Ighv8-5 C T 12: 115,031,309 (GRCm39) D77N probably benign Het
Itga3 C A 11: 94,953,566 (GRCm39) A259S probably benign Het
Kcnh4 T C 11: 100,648,010 (GRCm39) N118D probably damaging Het
Kif5b A T 18: 6,225,381 (GRCm39) N216K probably damaging Het
Lipo2 C T 19: 33,726,023 (GRCm39) M76I probably benign Het
Man2b1 G A 8: 85,820,772 (GRCm39) A657T possibly damaging Het
Mms19 A C 19: 41,935,522 (GRCm39) D831E probably damaging Het
Muc21 T G 17: 35,933,098 (GRCm39) probably benign Het
Myo1a G T 10: 127,554,453 (GRCm39) A808S probably benign Het
Myo7b A T 18: 32,095,757 (GRCm39) W1834R probably benign Het
Mypn T A 10: 62,966,977 (GRCm39) K900* probably null Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or4b1d G T 2: 89,968,947 (GRCm39) H179N possibly damaging Het
Or4k40 A G 2: 111,251,192 (GRCm39) Y35H probably damaging Het
Or6c212 A T 10: 129,558,783 (GRCm39) I210N possibly damaging Het
Osgepl1 A G 1: 53,357,299 (GRCm39) T154A probably damaging Het
Pacsin2 A T 15: 83,263,384 (GRCm39) Y82* probably null Het
Pomgnt1 T C 4: 116,009,348 (GRCm39) Y104H probably damaging Het
Robo3 T C 9: 37,332,726 (GRCm39) S857G probably damaging Het
Scn9a T C 2: 66,396,625 (GRCm39) I89M probably damaging Het
Sdhd T C 9: 50,508,431 (GRCm39) H145R probably benign Het
Selenov C T 7: 27,987,897 (GRCm39) R260Q probably benign Het
Spag6l T C 16: 16,580,898 (GRCm39) E483G probably damaging Het
Ssh2 T A 11: 77,345,079 (GRCm39) Y1021* probably null Het
Syne2 C T 12: 76,012,546 (GRCm39) A2580V probably benign Het
Taf6 T C 5: 138,180,924 (GRCm39) E219G probably damaging Het
Ttc27 A G 17: 75,024,925 (GRCm39) T7A probably benign Het
Unc80 A G 1: 66,512,423 (GRCm39) K111R 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
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'- GGCCTAATAGTTCAAACCGTGG -3'
(R):5'- TAAATCTGCGTCCCGTTGC -3'

Sequencing Primer
(F):5'- GATGATCATGAGCCCACTAAGTGC -3'
(R):5'- ATGAGTTCCACCTTGCAGAG -3'
Posted On 2021-01-18