Incidental Mutation 'IGL01820:Ctla2b'
ID 154489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctla2b
Ensembl Gene ENSMUSG00000074874
Gene Name cytotoxic T lymphocyte-associated protein 2 beta
Synonyms Ctla-2b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01820
Quality Score
Status
Chromosome 13
Chromosomal Location 61043164-61045261 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 61044503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Cysteine at position 28 (*28C)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021884] [ENSMUST00000080766] [ENSMUST00000171347] [ENSMUST00000223698] [ENSMUST00000223978] [ENSMUST00000225167] [ENSMUST00000225690] [ENSMUST00000225859] [ENSMUST00000225439]
AlphaFold P12400
Predicted Effect probably damaging
Transcript: ENSMUST00000021884
AA Change: D9V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021884
Gene: ENSMUSG00000074874
AA Change: D9V

DomainStartEndE-ValueType
Inhibitor_I29 16 75 1.85e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080766
SMART Domains Protein: ENSMUSP00000079588
Gene: ENSMUSG00000062705

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171347
AA Change: D9V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131083
Gene: ENSMUSG00000074874
AA Change: D9V

DomainStartEndE-ValueType
Inhibitor_I29 16 75 1.85e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223698
Predicted Effect probably benign
Transcript: ENSMUST00000223978
Predicted Effect probably benign
Transcript: ENSMUST00000225167
Predicted Effect probably benign
Transcript: ENSMUST00000225382
Predicted Effect probably damaging
Transcript: ENSMUST00000225690
AA Change: D9V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably null
Transcript: ENSMUST00000225802
AA Change: *28C
Predicted Effect probably benign
Transcript: ENSMUST00000225859
AA Change: D33V

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000225439
AA Change: D9V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000225732
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,896 (GRCm39) probably benign Het
Adcy2 T C 13: 68,886,664 (GRCm39) probably null Het
Akna G T 4: 63,304,495 (GRCm39) T553N probably benign Het
Boc A G 16: 44,312,235 (GRCm39) I609T possibly damaging Het
Btbd9 C T 17: 30,746,383 (GRCm39) V148I possibly damaging Het
Cacna1d A T 14: 29,764,823 (GRCm39) I2049N possibly damaging Het
Cdhr1 A T 14: 36,807,536 (GRCm39) M368K probably benign Het
Cftr A G 6: 18,226,138 (GRCm39) Y362C probably damaging Het
Cnppd1 G T 1: 75,116,236 (GRCm39) probably null Het
Col3a1 T C 1: 45,360,768 (GRCm39) I66T unknown Het
Col5a2 C A 1: 45,481,985 (GRCm39) M46I unknown Het
Csmd3 G T 15: 47,470,538 (GRCm39) C3379* probably null Het
Ddhd2 C T 8: 26,239,781 (GRCm39) E33K possibly damaging Het
Dock3 T C 9: 106,773,092 (GRCm39) H387R probably damaging Het
Dyrk1b T A 7: 27,881,025 (GRCm39) probably benign Het
Fam131c T C 4: 141,107,648 (GRCm39) C53R probably damaging Het
Fat1 T A 8: 45,463,539 (GRCm39) F1360L probably damaging Het
Gm10320 G T 13: 98,626,045 (GRCm39) S113* probably null Het
Ifih1 T C 2: 62,447,657 (GRCm39) D349G probably damaging Het
Il12a T C 3: 68,599,495 (GRCm39) probably benign Het
Ivl A T 3: 92,478,940 (GRCm39) M375K possibly damaging Het
Krt82 C A 15: 101,451,887 (GRCm39) probably benign Het
Mc4r C T 18: 66,992,226 (GRCm39) V296I probably benign Het
Met T A 6: 17,534,230 (GRCm39) I691N possibly damaging Het
Mycbp2 A T 14: 103,425,937 (GRCm39) I2396K probably damaging Het
Napg C A 18: 63,119,516 (GRCm39) Q135K probably benign Het
Nf2 A T 11: 4,739,655 (GRCm39) probably null Het
Nrxn1 G T 17: 90,950,531 (GRCm39) H549Q probably damaging Het
P4ha1 T A 10: 59,197,736 (GRCm39) I321K probably damaging Het
Prl5a1 T C 13: 28,332,683 (GRCm39) S94P probably benign Het
Prnp T C 2: 131,778,990 (GRCm39) V214A probably benign Het
Ptprc A T 1: 137,993,936 (GRCm39) F1165I probably damaging Het
Rdh10 T C 1: 16,198,483 (GRCm39) V207A possibly damaging Het
Rel A T 11: 23,703,218 (GRCm39) N131K probably benign Het
Rgs14 A T 13: 55,531,338 (GRCm39) D448V probably benign Het
Spag5 T G 11: 78,195,085 (GRCm39) S131A probably benign Het
Styxl1 C T 5: 135,794,604 (GRCm39) D88N probably damaging Het
Tlr3 C T 8: 45,851,376 (GRCm39) R507H probably benign Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Txlnb T C 10: 17,682,606 (GRCm39) probably null Het
Unc13a A G 8: 72,107,591 (GRCm39) V567A probably damaging Het
Vmn1r8 T C 6: 57,013,653 (GRCm39) S235P possibly damaging Het
Vmn2r51 T A 7: 9,839,409 (GRCm39) N60Y probably damaging Het
Wbp1l T A 19: 46,640,922 (GRCm39) L68Q probably damaging Het
Wdfy3 A T 5: 102,071,947 (GRCm39) V981E probably benign Het
Zdhhc13 T C 7: 48,458,613 (GRCm39) S316P probably damaging Het
Zfp516 C T 18: 83,005,486 (GRCm39) R797C probably benign Het
Zp3r A G 1: 130,526,657 (GRCm39) V182A probably benign Het
Other mutations in Ctla2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Ctla2b APN 13 61,043,874 (GRCm39) missense probably damaging 1.00
R0179:Ctla2b UTSW 13 61,044,107 (GRCm39) missense possibly damaging 0.82
R1950:Ctla2b UTSW 13 61,043,863 (GRCm39) missense possibly damaging 0.91
R2001:Ctla2b UTSW 13 61,043,881 (GRCm39) missense probably damaging 0.99
R3859:Ctla2b UTSW 13 61,043,857 (GRCm39) missense possibly damaging 0.79
R5226:Ctla2b UTSW 13 61,044,146 (GRCm39) nonsense probably null
R5393:Ctla2b UTSW 13 61,043,946 (GRCm39) missense probably damaging 1.00
R9564:Ctla2b UTSW 13 61,043,856 (GRCm39) nonsense probably null
Posted On 2014-02-04