Incidental Mutation 'R4952:Birc2'
ID 382066
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 042549-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R4952 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 7818228-7837065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7836741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 109 (I109V)
Ref Sequence ENSEMBL: ENSMUSP00000062610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054878] [ENSMUST00000074246] [ENSMUST00000190341]
AlphaFold Q62210
Predicted Effect probably damaging
Transcript: ENSMUST00000054878
AA Change: I109V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062610
Gene: ENSMUSG00000057367
AA Change: I109V

DomainStartEndE-ValueType
transmembrane domain 67 86 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074246
SMART Domains Protein: ENSMUSP00000091422
Gene: ENSMUSG00000057367

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 noncoding transcript
Transcript: ENSMUST00000189935
Predicted Effect probably benign
Transcript: ENSMUST00000190341
SMART Domains Protein: ENSMUSP00000140049
Gene: ENSMUSG00000057367

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 noncoding transcript
Transcript: ENSMUST00000191248
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 99% (93/94)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,887,063 (GRCm39) probably null Het
4933421I07Rik T C 7: 42,097,083 (GRCm39) Y76C possibly damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Ak9 A G 10: 41,296,585 (GRCm39) M1444V probably benign Het
Amfr A G 8: 94,699,787 (GRCm39) probably benign Het
Ankef1 A G 2: 136,392,449 (GRCm39) E546G probably damaging Het
Ankrd24 A G 10: 81,482,982 (GRCm39) M977V probably benign Het
Ap3m1 A T 14: 21,090,134 (GRCm39) S5T probably benign Het
Aqr C A 2: 113,940,418 (GRCm39) D1243Y probably damaging Het
Arhgef2 T C 3: 88,549,769 (GRCm39) L591P probably damaging Het
Arid4a C A 12: 71,070,299 (GRCm39) T70K possibly damaging Het
Asphd1 C T 7: 126,547,857 (GRCm39) A149T probably benign Het
Avpr1a T A 10: 122,285,659 (GRCm39) M317K probably damaging Het
Catsperd A G 17: 56,939,303 (GRCm39) Y44C probably damaging Het
Crygb T G 1: 65,121,268 (GRCm39) S20R probably benign Het
Cyp3a25 T C 5: 145,928,334 (GRCm39) N237S probably benign Het
Dkk3 C T 7: 111,717,558 (GRCm39) A304T probably benign Het
Dst T C 1: 34,310,503 (GRCm39) L4101S probably damaging Het
Dysf A G 6: 84,126,968 (GRCm39) N1407S possibly damaging Het
Epb41 A G 4: 131,727,581 (GRCm39) V265A probably damaging Het
Faim2 C T 15: 99,419,109 (GRCm39) E75K possibly damaging Het
Fam237b T A 5: 5,625,387 (GRCm39) F28I probably benign Het
Fbn1 T A 2: 125,159,454 (GRCm39) D2208V probably damaging Het
Fbxo28 A G 1: 182,153,950 (GRCm39) S129P probably damaging Het
Fbxw14 T A 9: 109,105,269 (GRCm39) I299L probably benign Het
Fras1 C T 5: 96,795,357 (GRCm39) A1050V probably benign Het
Fyb1 C A 15: 6,668,292 (GRCm39) T495K probably damaging Het
Ghdc A T 11: 100,659,977 (GRCm39) W257R probably damaging Het
Gm10719 T C 9: 3,018,962 (GRCm39) L69S probably benign Het
Gm12250 G T 11: 58,079,210 (GRCm39) noncoding transcript Het
Gm4846 A T 1: 166,311,503 (GRCm39) F452Y probably damaging Het
Gpbp1 T C 13: 111,577,284 (GRCm39) D202G probably damaging Het
Gpd2 C A 2: 57,197,025 (GRCm39) Y193* probably null Het
Grhl2 G T 15: 37,287,493 (GRCm39) R229L probably benign Het
Gtf2a1 A G 12: 91,542,523 (GRCm39) F59L possibly damaging Het
Heatr1 G T 13: 12,425,480 (GRCm39) W640L probably benign Het
Kalrn A T 16: 34,177,785 (GRCm39) probably null Het
Keap1 T C 9: 21,148,582 (GRCm39) T142A probably damaging Het
Kpna2 G A 11: 106,882,061 (GRCm39) T255M probably damaging Het
Kpna3 A G 14: 61,607,838 (GRCm39) C456R probably damaging Het
Lama1 G A 17: 68,074,561 (GRCm39) probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mag C A 7: 30,608,581 (GRCm39) E178* probably null Het
Map3k13 A G 16: 21,729,769 (GRCm39) I467V probably benign Het
Mga A G 2: 119,733,782 (GRCm39) E210G probably damaging Het
Msi2 C T 11: 88,257,610 (GRCm39) probably null Het
Naa16 A T 14: 79,582,525 (GRCm39) D521E probably damaging Het
Nav2 C T 7: 48,954,288 (GRCm39) probably benign Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nek5 T C 8: 22,586,815 (GRCm39) K332R probably benign Het
Nek5 T A 8: 22,569,104 (GRCm39) I573L probably benign Het
Ntn1 CCTTCTTCT CCTTCT 11: 68,103,852 (GRCm39) probably benign Het
Odad1 A C 7: 45,591,615 (GRCm39) E293A probably damaging Het
Or2w1 G A 13: 21,317,514 (GRCm39) V190I probably benign Het
Or5v1b A T 17: 37,841,641 (GRCm39) T258S possibly damaging Het
Or6c204 T A 10: 129,022,466 (GRCm39) T275S probably benign Het
Or8b12b T A 9: 37,684,360 (GRCm39) M135K probably damaging Het
Orai1 T G 5: 123,167,313 (GRCm39) V162G probably damaging Het
P2rx6 T C 16: 17,385,308 (GRCm39) S134P probably damaging Het
Pappa2 G A 1: 158,684,706 (GRCm39) T811I probably null Het
Pcdhga10 T C 18: 37,880,213 (GRCm39) probably benign Het
Pex16 C T 2: 92,209,405 (GRCm39) R241* probably null Het
Plxnb1 T C 9: 108,943,904 (GRCm39) F1969L probably damaging Het
Postn A G 3: 54,297,736 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,277 (GRCm39) I752N probably damaging Het
Rasgef1c A T 11: 49,870,339 (GRCm39) K468M probably damaging Het
Rbfox1 A G 16: 7,094,952 (GRCm39) S111G probably benign Het
Rbm28 T C 6: 29,138,597 (GRCm39) D405G probably damaging Het
Rell1 A G 5: 64,097,010 (GRCm39) probably benign Het
Rfx3 A G 19: 27,808,072 (GRCm39) S224P probably damaging Het
Scarb2 A T 5: 92,602,636 (GRCm39) I260K probably damaging Het
Septin4 A G 11: 87,458,598 (GRCm39) N324S probably benign Het
Slc15a4 A G 5: 127,680,901 (GRCm39) F72L probably damaging Het
Spg7 C A 8: 123,816,910 (GRCm39) R534S probably damaging Het
Stoml2 T C 4: 43,029,589 (GRCm39) T164A probably benign Het
Syt11 C T 3: 88,669,590 (GRCm39) G101S possibly damaging Het
Traj12 A G 14: 54,444,013 (GRCm39) probably benign Het
Traj7 A T 14: 54,448,981 (GRCm39) probably benign Het
Tysnd1 C T 10: 61,537,855 (GRCm39) T175I possibly damaging Het
Usp48 T G 4: 137,334,004 (GRCm39) Y139* probably null Het
Vmn2r72 A G 7: 85,400,317 (GRCm39) L244P probably benign Het
Wasf1 C A 10: 40,812,186 (GRCm39) P325Q unknown Het
Zc3h18 T A 8: 123,137,639 (GRCm39) probably benign Het
Zfp712 A G 13: 67,188,905 (GRCm39) S541P possibly 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
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
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'- ATGGAGAACACCTTTCCCAG -3'
(R):5'- TCAACAATCAGGCGCCTCTG -3'

Sequencing Primer
(F):5'- TGGAGAACACCTTTCCCAGTTAAAC -3'
(R):5'- TGAGTGCGGCTGCCTTC -3'
Posted On 2016-04-27