Incidental Mutation 'R7460:Birc2'
ID 578390
Institutional Source Beutler Lab
Gene Symbol Birc2
Ensembl Gene ENSMUSG00000057367
Gene Name baculoviral IAP repeat-containing 2
Synonyms cIAP1, Api1, HIAP1, cIAP-1, MIAP1, mcIAP1, MIHB, IAP1
MMRRC Submission 045534-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R7460 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 7818228-7837065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 7818762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 610 (F610I)
Ref Sequence ENSEMBL: ENSMUSP00000091422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074246] [ENSMUST00000190341]
AlphaFold Q62210
Predicted Effect probably damaging
Transcript: ENSMUST00000074246
AA Change: F610I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091422
Gene: ENSMUSG00000057367
AA Change: F610I

DomainStartEndE-ValueType
BIR 44 115 4.06e-33 SMART
BIR 175 245 4.25e-36 SMART
BIR 260 331 2.24e-35 SMART
low complexity region 432 446 N/A INTRINSIC
CARD 447 535 1.64e-20 SMART
low complexity region 552 563 N/A INTRINSIC
RING 565 599 1.65e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190341
AA Change: F610I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140049
Gene: ENSMUSG00000057367
AA Change: F610I

DomainStartEndE-ValueType
BIR 44 115 4.06e-33 SMART
BIR 175 245 4.25e-36 SMART
BIR 260 331 2.24e-35 SMART
low complexity region 432 446 N/A INTRINSIC
CARD 447 535 1.64e-20 SMART
low complexity region 552 563 N/A INTRINSIC
RING 565 599 1.65e-5 SMART
Meta Mutation Damage Score 0.7597 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice showed a modest reduction in the number of lymphocytes. Mice homozygous for a knock-in allele exhibit increased T cell poliferation and IFNG secretion in response to anti-CD3 stimulation. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Gene trapped(2)

Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 T A 1: 60,473,466 (GRCm39) V61D probably damaging Het
Agrn C A 4: 156,258,881 (GRCm39) V915L probably damaging Het
Arhgap24 T C 5: 103,040,212 (GRCm39) V476A probably benign Het
Arhgef15 A G 11: 68,837,861 (GRCm39) L720P probably damaging Het
Atad2b C A 12: 5,002,660 (GRCm39) R343S probably benign Het
Atxn3 T A 12: 101,892,776 (GRCm39) T313S probably benign Het
BC051665 T C 13: 60,932,457 (GRCm39) E76G probably benign Het
Cdh16 A T 8: 105,348,923 (GRCm39) V58D possibly damaging Het
Cenpf T C 1: 189,386,247 (GRCm39) D2011G probably damaging Het
Ddb1 T C 19: 10,585,275 (GRCm39) probably null Het
Ddx1 A G 12: 13,281,440 (GRCm39) probably null Het
Disp2 A G 2: 118,620,261 (GRCm39) H331R probably damaging Het
Dmxl1 A G 18: 50,011,679 (GRCm39) T1279A probably benign Het
Dync1i2 T C 2: 71,081,230 (GRCm39) I473T probably damaging Het
Fam114a1 T G 5: 65,196,050 (GRCm39) V520G possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 T A 11: 55,169,789 (GRCm39) D2990V probably damaging Het
Fbh1 C T 2: 11,761,496 (GRCm39) G597D probably benign Het
Fdxr A C 11: 115,167,680 (GRCm39) S12A probably benign Het
Fgf14 T A 14: 124,914,105 (GRCm39) R9W possibly damaging Het
Gnat3 A T 5: 18,204,656 (GRCm39) D103V Het
Hepacam2 G A 6: 3,487,199 (GRCm39) P53S probably benign Het
Inhca T C 9: 103,131,847 (GRCm39) N625D probably benign Het
Jmjd1c A G 10: 67,052,815 (GRCm39) T21A probably benign Het
Lama1 T C 17: 68,074,013 (GRCm39) C930R Het
Lrp1b T C 2: 40,488,478 (GRCm39) T4536A Het
Lrrc27 T A 7: 138,803,574 (GRCm39) V166E probably damaging Het
Mapk10 C T 5: 103,186,443 (GRCm39) V90I probably benign Het
Mfsd14b C T 13: 65,219,837 (GRCm39) G339D probably damaging Het
Mnt T A 11: 74,734,109 (GRCm39) M580K unknown Het
Mrc1 T C 2: 14,253,680 (GRCm39) S234P probably damaging Het
Mrps5 G A 2: 127,433,811 (GRCm39) V75I not run Het
Mrtfb G T 16: 13,218,840 (GRCm39) Q495H probably benign Het
Myo10 A G 15: 25,807,913 (GRCm39) D1845G probably damaging Het
Or3a1c A T 11: 74,046,672 (GRCm39) I231F probably damaging Het
Or51a25 A T 7: 102,373,028 (GRCm39) M223K probably benign Het
Or7a40 C A 16: 16,491,030 (GRCm39) A272S possibly damaging Het
Or8b3 T C 9: 38,314,649 (GRCm39) S160P possibly damaging Het
Pdhx G A 2: 102,877,124 (GRCm39) T95M probably damaging Het
Pigb C T 9: 72,945,957 (GRCm39) V72I probably damaging Het
Prr7 C A 13: 55,620,166 (GRCm39) P110Q unknown Het
Psg22 A G 7: 18,458,329 (GRCm39) D340G probably benign Het
Ptprn2 T C 12: 117,212,301 (GRCm39) S908P probably benign Het
Ros1 T C 10: 51,994,299 (GRCm39) Y1348C probably damaging Het
Rspry1 T C 8: 95,376,963 (GRCm39) I506T probably benign Het
Ryr2 T A 13: 11,720,596 (GRCm39) Y2684F probably benign Het
Sdr16c6 A G 4: 4,076,575 (GRCm39) probably null Het
Senp7 A G 16: 55,993,545 (GRCm39) T743A possibly damaging Het
Slc6a20b T C 9: 123,434,014 (GRCm39) I275V probably benign Het
Slc6a7 A G 18: 61,134,674 (GRCm39) I467T probably benign Het
Tacc2 A G 7: 130,226,363 (GRCm39) D1016G probably benign Het
Thsd7a A G 6: 12,554,933 (GRCm39) V317A Het
Tle3 A G 9: 61,320,366 (GRCm39) H598R probably damaging Het
Tmem102 A G 11: 69,694,949 (GRCm39) L341P probably damaging Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Trappc14 G A 5: 138,260,991 (GRCm39) T218M probably benign Het
Trhde T A 10: 114,249,168 (GRCm39) D866V probably damaging Het
Ttn A G 2: 76,581,617 (GRCm39) I23092T probably damaging Het
U2surp C A 9: 95,344,877 (GRCm39) V944L unknown Het
Urgcp T C 11: 5,666,622 (GRCm39) H615R possibly damaging Het
Vps45 T A 3: 95,955,699 (GRCm39) Y97F probably benign Het
Zc3h12c T C 9: 52,055,402 (GRCm39) T136A probably benign Het
Zfp948 A T 17: 21,808,677 (GRCm39) H623L probably damaging Het
Other mutations in Birc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Birc2 APN 9 7,833,666 (GRCm39) missense probably damaging 1.00
IGL00972:Birc2 APN 9 7,833,716 (GRCm39) missense probably benign 0.36
IGL01329:Birc2 APN 9 7,860,733 (GRCm39) missense probably damaging 1.00
IGL02852:Birc2 APN 9 7,854,484 (GRCm39) missense probably damaging 0.99
IGL02888:Birc2 APN 9 7,819,559 (GRCm39) missense probably benign 0.22
IGL03135:Birc2 APN 9 7,849,722 (GRCm39) splice site probably benign
IGL03399:Birc2 APN 9 7,821,088 (GRCm39) missense probably damaging 1.00
1mM(1):Birc2 UTSW 9 7,819,409 (GRCm39) missense probably damaging 0.98
R0409:Birc2 UTSW 9 7,819,385 (GRCm39) missense possibly damaging 0.61
R0478:Birc2 UTSW 9 7,860,348 (GRCm39) missense probably damaging 1.00
R0905:Birc2 UTSW 9 7,851,052 (GRCm39) makesense probably null
R1617:Birc2 UTSW 9 7,826,952 (GRCm39) missense possibly damaging 0.66
R1864:Birc2 UTSW 9 7,819,518 (GRCm39) missense probably benign 0.06
R1934:Birc2 UTSW 9 7,854,500 (GRCm39) missense possibly damaging 0.89
R2005:Birc2 UTSW 9 7,860,342 (GRCm39) missense probably damaging 1.00
R2156:Birc2 UTSW 9 7,826,939 (GRCm39) missense probably damaging 1.00
R2519:Birc2 UTSW 9 7,821,180 (GRCm39) missense possibly damaging 0.46
R2867:Birc2 UTSW 9 7,834,478 (GRCm39) start codon destroyed probably null 0.08
R2867:Birc2 UTSW 9 7,834,478 (GRCm39) start codon destroyed probably null 0.08
R3019:Birc2 UTSW 9 7,857,390 (GRCm39) critical splice donor site probably null
R4028:Birc2 UTSW 9 7,819,352 (GRCm39) missense probably benign 0.01
R4169:Birc2 UTSW 9 7,849,684 (GRCm39) missense possibly damaging 0.78
R4243:Birc2 UTSW 9 7,834,386 (GRCm39) missense probably benign 0.00
R4250:Birc2 UTSW 9 7,818,936 (GRCm39) missense probably benign 0.00
R4584:Birc2 UTSW 9 7,833,675 (GRCm39) missense probably damaging 1.00
R4952:Birc2 UTSW 9 7,836,741 (GRCm39) missense probably damaging 0.99
R4964:Birc2 UTSW 9 7,860,553 (GRCm39) missense probably benign 0.01
R5017:Birc2 UTSW 9 7,818,886 (GRCm39) nonsense probably null
R5338:Birc2 UTSW 9 7,857,360 (GRCm39) missense probably benign 0.01
R5395:Birc2 UTSW 9 7,861,175 (GRCm39) missense probably damaging 1.00
R5877:Birc2 UTSW 9 7,849,347 (GRCm39) missense probably damaging 1.00
R5914:Birc2 UTSW 9 7,857,343 (GRCm39) makesense probably null
R6148:Birc2 UTSW 9 7,849,684 (GRCm39) missense possibly damaging 0.78
R6163:Birc2 UTSW 9 7,819,036 (GRCm39) missense probably benign 0.15
R6471:Birc2 UTSW 9 7,857,421 (GRCm39) missense probably benign 0.00
R6747:Birc2 UTSW 9 7,860,262 (GRCm39) critical splice donor site probably null
R6752:Birc2 UTSW 9 7,857,345 (GRCm39) missense probably benign 0.10
R6789:Birc2 UTSW 9 7,836,966 (GRCm39) intron probably benign
R6795:Birc2 UTSW 9 7,833,873 (GRCm39) missense possibly damaging 0.81
R6812:Birc2 UTSW 9 7,854,418 (GRCm39) missense probably damaging 0.99
R6941:Birc2 UTSW 9 7,819,469 (GRCm39) missense probably benign 0.00
R7105:Birc2 UTSW 9 7,819,442 (GRCm39) missense probably damaging 1.00
R7135:Birc2 UTSW 9 7,818,762 (GRCm39) missense probably damaging 1.00
R7233:Birc2 UTSW 9 7,827,009 (GRCm39) missense probably damaging 1.00
R7517:Birc2 UTSW 9 7,819,424 (GRCm39) missense probably benign 0.00
R8078:Birc2 UTSW 9 7,858,742 (GRCm39) missense probably damaging 0.98
R8101:Birc2 UTSW 9 7,861,005 (GRCm39) missense probably benign 0.00
R8146:Birc2 UTSW 9 7,818,797 (GRCm39) missense probably damaging 1.00
R8314:Birc2 UTSW 9 7,872,942 (GRCm39) intron probably benign
R8371:Birc2 UTSW 9 7,849,427 (GRCm39) missense probably damaging 1.00
R8396:Birc2 UTSW 9 7,834,301 (GRCm39) missense probably benign 0.05
R9009:Birc2 UTSW 9 7,833,937 (GRCm39) missense probably benign
R9497:Birc2 UTSW 9 7,861,028 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACAGACACAGTCCTGTAGC -3'
(R):5'- CTCAGGCTTGTCATTGGAAGAG -3'

Sequencing Primer
(F):5'- CAGTCCTGTAGCTCAACAGC -3'
(R):5'- GTCATTGGAAGAGCAGTTGC -3'
Posted On 2019-10-07