Incidental Mutation 'R5914:Birc2'
ID 461205
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 044111-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R5914 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 7818228-7837065 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to C at 7857343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamic Acid at position 377 (*377E)
Ref Sequence ENSEMBL: ENSMUSP00000111336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013949] [ENSMUST00000115672] [ENSMUST00000115673] [ENSMUST00000159323]
AlphaFold Q62210
Predicted Effect probably benign
Transcript: ENSMUST00000013949
SMART Domains Protein: ENSMUSP00000013949
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
BIR 167 237 2.12e-36 SMART
BIR 253 324 1.5e-36 SMART
CARD 438 525 7.29e-4 SMART
RING 555 589 1.43e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000115672
AA Change: *377E
SMART Domains Protein: ENSMUSP00000111336
Gene: ENSMUSG00000032000
AA Change: *377E

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
BIR 167 237 2.12e-36 SMART
BIR 253 324 1.5e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115673
SMART Domains Protein: ENSMUSP00000111337
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159323
SMART Domains Protein: ENSMUSP00000125652
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161642
SMART Domains Protein: ENSMUSP00000125512
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
SCOP:d1g73d_ 4 35 1e-6 SMART
PDB:3T6P|A 4 106 2e-39 PDB
low complexity region 107 125 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 95% (87/92)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,410,219 (GRCm39) R286H possibly damaging Het
Ank3 A T 10: 69,828,774 (GRCm39) probably benign Het
Arhgap24 G A 5: 102,700,025 (GRCm39) probably null Het
Arhgef2 T C 3: 88,543,176 (GRCm39) Y396H probably benign Het
Asap3 G T 4: 135,968,720 (GRCm39) G722C probably benign Het
Cdc123 G T 2: 5,803,174 (GRCm39) Q282K possibly damaging Het
Cdkl4 C T 17: 80,855,120 (GRCm39) probably null Het
Cep97 T C 16: 55,725,820 (GRCm39) N689S probably benign Het
Cfap97 T G 8: 46,634,895 (GRCm39) S407A probably damaging Het
Cfh A T 1: 140,063,967 (GRCm39) N436K probably benign Het
Chpf2 A T 5: 24,797,421 (GRCm39) probably benign Het
Cnnm2 A G 19: 46,751,616 (GRCm39) T469A probably benign Het
Col6a3 T A 1: 90,703,922 (GRCm39) I2275F unknown Het
Ctdspl2 A T 2: 121,809,414 (GRCm39) N122Y probably damaging Het
Dcaf6 A T 1: 165,178,724 (GRCm39) C602S probably benign Het
Dda1 T A 8: 71,927,294 (GRCm39) probably benign Het
Dixdc1 T C 9: 50,609,888 (GRCm39) probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Emilin3 T A 2: 160,750,990 (GRCm39) N253I probably damaging Het
Epg5 T A 18: 78,002,847 (GRCm39) probably null Het
Fam204a A T 19: 60,209,525 (GRCm39) Y68* probably null Het
Fbln5 T G 12: 101,727,002 (GRCm39) D329A possibly damaging Het
Fkbp15 T A 4: 62,246,047 (GRCm39) probably null Het
Fnbp4 C G 2: 90,605,137 (GRCm39) probably benign Het
Foxn2 C A 17: 88,770,138 (GRCm39) probably null Het
Frem1 T C 4: 82,920,012 (GRCm39) D448G probably damaging Het
Fzd9 T C 5: 135,278,199 (GRCm39) Y562C probably benign Het
Gcn1 A G 5: 115,748,194 (GRCm39) silent Het
Gm6003 A G 7: 32,864,691 (GRCm39) noncoding transcript Het
Gnl3 C A 14: 30,738,853 (GRCm39) E65D possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk2 C T 6: 82,713,615 (GRCm39) R461K probably benign Het
Ice1 A G 13: 70,754,496 (GRCm39) F530S possibly damaging Het
Ing3 T A 6: 21,968,904 (GRCm39) S129T probably benign Het
Ino80 G A 2: 119,288,697 (GRCm39) S3L probably damaging Het
Ints2 T A 11: 86,113,000 (GRCm39) Q839H probably benign Het
Kcnrg T C 14: 61,849,280 (GRCm39) M247T probably benign Het
Kpna6 T C 4: 129,566,485 (GRCm39) probably benign Het
Krtap28-13 T A 1: 83,039,044 (GRCm39) probably benign Het
Lgr4 T A 2: 109,748,617 (GRCm39) V51E possibly damaging Het
Map3k5 A C 10: 19,980,001 (GRCm39) E836D probably benign Het
Mapk11 T C 15: 89,030,038 (GRCm39) I193V probably benign Het
Marchf10 A T 11: 105,276,308 (GRCm39) V660E probably damaging Het
Matn4 T C 2: 164,235,144 (GRCm39) E435G probably damaging Het
Mre11a G T 9: 14,723,232 (GRCm39) R402M probably damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Ndufv3 C T 17: 31,750,206 (GRCm39) R99* probably null Het
Nkx6-1 C T 5: 101,811,847 (GRCm39) S85N unknown Het
Nop2 A T 6: 125,111,691 (GRCm39) E141D probably benign Het
Or5b3 A G 19: 13,388,326 (GRCm39) H131R probably benign Het
Or8b1 G C 9: 38,399,657 (GRCm39) E111Q probably damaging Het
Paox T C 7: 139,709,101 (GRCm39) S205P probably damaging Het
Pcdh15 T C 10: 74,466,768 (GRCm39) V995A probably benign Het
Pdcd1 T A 1: 93,968,550 (GRCm39) K161N probably benign Het
Pfkfb2 C A 1: 130,627,832 (GRCm39) V372L probably damaging Het
Phldb1 G A 9: 44,622,948 (GRCm39) T19I probably damaging Het
Pik3c2g G T 6: 139,599,477 (GRCm39) V198L probably benign Het
Pnpla8 T A 12: 44,342,753 (GRCm39) L41* probably null Het
Postn C T 3: 54,281,221 (GRCm39) Q449* probably null Het
Ppp1r3a C T 6: 14,718,988 (GRCm39) S642N probably benign Het
Ptpn23 G A 9: 110,214,511 (GRCm39) probably benign Het
Ptprj T C 2: 90,283,684 (GRCm39) N923S possibly damaging Het
Rai1 T C 11: 60,078,630 (GRCm39) V898A probably benign Het
Rasgef1a A T 6: 118,057,515 (GRCm39) Y72F possibly damaging Het
Serpinb7 T C 1: 107,379,580 (GRCm39) V329A probably damaging Het
Slc24a4 T A 12: 102,201,049 (GRCm39) I311N probably damaging Het
Slc45a1 C A 4: 150,713,997 (GRCm39) L749F possibly damaging Het
Spon1 G A 7: 113,630,056 (GRCm39) D428N probably damaging Het
Tcf7l2 G A 19: 55,886,992 (GRCm39) E2K probably benign Het
Thoc5 A G 11: 4,870,416 (GRCm39) M472V possibly damaging Het
Tm6sf2 T C 8: 70,528,213 (GRCm39) Y121H probably damaging Het
Tmc4 T A 7: 3,675,008 (GRCm39) D221V probably benign Het
Trim30b A T 7: 104,006,572 (GRCm39) S95T probably damaging Het
Trip12 T C 1: 84,741,179 (GRCm39) E571G probably damaging Het
Ttn T C 2: 76,781,656 (GRCm39) probably null Het
Ubp1 A T 9: 113,785,807 (GRCm39) R161W probably benign Het
Usp21 G A 1: 171,109,745 (GRCm39) probably benign Het
Vmn1r61 T A 7: 5,613,529 (GRCm39) R262W probably damaging Het
Vmn2r67 A T 7: 84,801,044 (GRCm39) D297E probably damaging Het
Vwa5a T C 9: 38,653,038 (GRCm39) L784S probably benign Het
Vwc2 G A 11: 11,104,244 (GRCm39) V259M probably damaging Het
Zeb2 T C 2: 44,887,064 (GRCm39) I596M probably benign Het
Zgrf1 T A 3: 127,354,672 (GRCm39) L97H 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
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
R7460:Birc2 UTSW 9 7,818,762 (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'- ATCTATGAGGCCTGAAGCATAAAC -3'
(R):5'- AAATGGAGCAGGTCTGTTGG -3'

Sequencing Primer
(F):5'- AAATTTCTCCAAGCGGGCTG -3'
(R):5'- GTCATTTTCAGTGCAGTGCTAG -3'
Posted On 2017-02-28