Incidental Mutation 'IGL01820:Ctla2b'
ID154489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctla2b
Ensembl Gene ENSMUSG00000074874
Gene Namecytotoxic T lymphocyte-associated protein 2 beta
SynonymsCtla-2b
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01820
Quality Score
Status
Chromosome13
Chromosomal Location60895350-60897447 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 60896689 bp
ZygosityHeterozygous
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] [ENSMUST00000225439] [ENSMUST00000225690] [ENSMUST00000225859]
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: ENSMUST00000225439
AA Change: D9V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000225690
AA Change: D9V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225732
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)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Cnppd1 G T 1: 75,139,592 probably null Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fam131c T C 4: 141,380,337 C53R probably damaging Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Ivl A T 3: 92,571,633 M375K possibly damaging Het
Krt82 C A 15: 101,543,452 probably benign Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zdhhc13 T C 7: 48,808,865 S316P probably damaging Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Zp3r A G 1: 130,598,920 V182A probably benign Het
Other mutations in Ctla2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03088:Ctla2b APN 13 60896060 missense probably damaging 1.00
R0179:Ctla2b UTSW 13 60896293 missense possibly damaging 0.82
R1950:Ctla2b UTSW 13 60896049 missense possibly damaging 0.91
R2001:Ctla2b UTSW 13 60896067 missense probably damaging 0.99
R3859:Ctla2b UTSW 13 60896043 missense possibly damaging 0.79
R5226:Ctla2b UTSW 13 60896332 nonsense probably null
R5393:Ctla2b UTSW 13 60896132 missense probably damaging 1.00
Posted On2014-02-04