Incidental Mutation 'IGL02315:Naip2'
ID 287987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Naip2
Ensembl Gene ENSMUSG00000078945
Gene Name NLR family, apoptosis inhibitory protein 2
Synonyms Naip-rs6, Birc1b, Naip2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL02315
Quality Score
Status
Chromosome 13
Chromosomal Location 100280571-100338600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100297744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 764 (D764V)
Ref Sequence ENSEMBL: ENSMUSP00000125852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067975] [ENSMUST00000117913] [ENSMUST00000167986]
AlphaFold Q9QUK4
Predicted Effect probably damaging
Transcript: ENSMUST00000067975
AA Change: D764V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070827
Gene: ENSMUSG00000078945
AA Change: D764V

DomainStartEndE-ValueType
BIR 58 129 7.95e-18 SMART
BIR 157 229 5.31e-37 SMART
BIR 276 347 4.22e-31 SMART
Pfam:NACHT 508 662 1.9e-36 PFAM
low complexity region 954 964 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117913
AA Change: D764V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113890
Gene: ENSMUSG00000078945
AA Change: D764V

DomainStartEndE-ValueType
BIR 58 129 7.95e-18 SMART
BIR 157 229 5.31e-37 SMART
BIR 276 347 4.22e-31 SMART
Pfam:NACHT 508 662 1.9e-36 PFAM
low complexity region 954 964 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167986
AA Change: D764V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125852
Gene: ENSMUSG00000078945
AA Change: D764V

DomainStartEndE-ValueType
BIR 58 129 7.95e-18 SMART
BIR 157 229 5.31e-37 SMART
BIR 276 347 4.22e-31 SMART
Pfam:NACHT 508 662 8.6e-35 PFAM
low complexity region 954 964 N/A INTRINSIC
low complexity region 1116 1126 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,266,185 (GRCm39) I162F probably damaging Het
Akap8 T C 17: 32,524,475 (GRCm39) D607G probably benign Het
Ap2b1 G A 11: 83,227,625 (GRCm39) V327I probably damaging Het
Bmpr1b A G 3: 141,563,290 (GRCm39) V218A probably damaging Het
Cfap157 T A 2: 32,668,177 (GRCm39) D421V probably benign Het
Ctsm A G 13: 61,687,462 (GRCm39) V100A probably benign Het
Cwf19l2 C T 9: 3,410,030 (GRCm39) T53I probably damaging Het
Dst T C 1: 34,237,746 (GRCm39) C3663R probably damaging Het
Fbxo10 T A 4: 45,062,469 (GRCm39) H19L probably benign Het
Ghitm A T 14: 36,853,521 (GRCm39) N106K probably benign Het
Hivep2 T C 10: 14,006,983 (GRCm39) F1194L probably benign Het
Hpse2 A G 19: 42,955,386 (GRCm39) probably benign Het
Ighv1-67 C T 12: 115,567,687 (GRCm39) G56D probably benign Het
Ikzf4 A G 10: 128,470,014 (GRCm39) F502S probably damaging Het
Lrrc24 A T 15: 76,602,506 (GRCm39) F126L probably damaging Het
Mapt G A 11: 104,218,904 (GRCm39) R355Q probably damaging Het
Mug1 T A 6: 121,817,126 (GRCm39) V65E probably benign Het
Myh6 T C 14: 55,191,291 (GRCm39) E850G probably damaging Het
Myh9 C A 15: 77,654,173 (GRCm39) V1211L probably benign Het
Or8d2b G A 9: 38,789,353 (GRCm39) V294I probably damaging Het
Parp6 A G 9: 59,549,021 (GRCm39) probably benign Het
Ppp4r4 C T 12: 103,566,620 (GRCm39) probably benign Het
Pramel11 T C 4: 143,624,498 (GRCm39) probably benign Het
Pxylp1 A G 9: 96,721,196 (GRCm39) L56P probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Skida1 T C 2: 18,050,816 (GRCm39) probably benign Het
Slc35d2 A G 13: 64,254,849 (GRCm39) S210P possibly damaging Het
Slit2 C T 5: 48,145,213 (GRCm39) T71M probably damaging Het
Spem2 A T 11: 69,708,191 (GRCm39) L258Q probably damaging Het
Stxbp2 C T 8: 3,685,607 (GRCm39) probably benign Het
Vit G A 17: 78,930,087 (GRCm39) V351I possibly damaging Het
Zwilch A G 9: 64,057,549 (GRCm39) S285P probably damaging Het
Zzef1 A T 11: 72,766,083 (GRCm39) R1537* probably null Het
Other mutations in Naip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Naip2 APN 13 100,291,395 (GRCm39) missense probably benign 0.00
IGL00676:Naip2 APN 13 100,289,140 (GRCm39) missense probably damaging 1.00
IGL00870:Naip2 APN 13 100,288,568 (GRCm39) splice site probably benign
IGL00908:Naip2 APN 13 100,297,157 (GRCm39) missense probably benign 0.01
IGL00916:Naip2 APN 13 100,297,939 (GRCm39) missense probably damaging 0.97
IGL00949:Naip2 APN 13 100,298,099 (GRCm39) missense probably damaging 1.00
IGL01010:Naip2 APN 13 100,291,446 (GRCm39) missense probably damaging 0.99
IGL01642:Naip2 APN 13 100,297,445 (GRCm39) missense probably damaging 0.97
IGL01884:Naip2 APN 13 100,325,329 (GRCm39) splice site probably benign
IGL01917:Naip2 APN 13 100,298,591 (GRCm39) missense probably benign 0.00
IGL02015:Naip2 APN 13 100,298,115 (GRCm39) missense possibly damaging 0.57
IGL02328:Naip2 APN 13 100,297,877 (GRCm39) missense probably damaging 1.00
IGL02735:Naip2 APN 13 100,296,722 (GRCm39) missense probably damaging 0.99
IGL02738:Naip2 APN 13 100,325,685 (GRCm39) missense probably benign 0.01
IGL02887:Naip2 APN 13 100,298,020 (GRCm39) missense possibly damaging 0.90
IGL02894:Naip2 APN 13 100,320,297 (GRCm39) missense probably benign
IGL02894:Naip2 APN 13 100,297,505 (GRCm39) missense probably damaging 1.00
IGL02974:Naip2 APN 13 100,298,186 (GRCm39) missense probably damaging 1.00
IGL03024:Naip2 APN 13 100,325,862 (GRCm39) missense possibly damaging 0.50
IGL03056:Naip2 APN 13 100,298,795 (GRCm39) missense possibly damaging 0.90
IGL03281:Naip2 APN 13 100,298,128 (GRCm39) missense probably damaging 0.99
R0131:Naip2 UTSW 13 100,320,296 (GRCm39) missense probably benign 0.01
R0131:Naip2 UTSW 13 100,320,296 (GRCm39) missense probably benign 0.01
R0132:Naip2 UTSW 13 100,320,296 (GRCm39) missense probably benign 0.01
R0310:Naip2 UTSW 13 100,285,350 (GRCm39) missense probably damaging 1.00
R0367:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0368:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0422:Naip2 UTSW 13 100,297,621 (GRCm39) missense probably benign 0.10
R0441:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0445:Naip2 UTSW 13 100,298,395 (GRCm39) missense possibly damaging 0.91
R0446:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0464:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0466:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0467:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0486:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0533:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R0853:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R0853:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R0855:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R0855:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R0904:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R0904:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R0906:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R0906:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R0908:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R0908:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R0959:Naip2 UTSW 13 100,291,419 (GRCm39) missense probably benign 0.03
R0959:Naip2 UTSW 13 100,291,386 (GRCm39) missense probably benign 0.01
R0962:Naip2 UTSW 13 100,315,893 (GRCm39) missense probably damaging 1.00
R1024:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1024:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1186:Naip2 UTSW 13 100,298,545 (GRCm39) frame shift probably null
R1186:Naip2 UTSW 13 100,298,489 (GRCm39) missense possibly damaging 0.63
R1217:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1217:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1340:Naip2 UTSW 13 100,325,630 (GRCm39) missense possibly damaging 0.80
R1342:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1342:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1404:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1423:Naip2 UTSW 13 100,291,355 (GRCm39) intron probably benign
R1423:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1423:Naip2 UTSW 13 100,291,386 (GRCm39) missense probably benign 0.01
R1423:Naip2 UTSW 13 100,291,380 (GRCm39) missense possibly damaging 0.59
R1426:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1426:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1472:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1575:Naip2 UTSW 13 100,291,537 (GRCm39) intron probably benign
R1575:Naip2 UTSW 13 100,291,529 (GRCm39) missense probably benign 0.00
R1576:Naip2 UTSW 13 100,291,529 (GRCm39) missense probably benign 0.00
R1576:Naip2 UTSW 13 100,291,537 (GRCm39) intron probably benign
R1599:Naip2 UTSW 13 100,298,489 (GRCm39) missense possibly damaging 0.63
R1640:Naip2 UTSW 13 100,298,489 (GRCm39) missense possibly damaging 0.63
R1641:Naip2 UTSW 13 100,298,489 (GRCm39) missense possibly damaging 0.63
R1642:Naip2 UTSW 13 100,298,489 (GRCm39) missense possibly damaging 0.63
R1643:Naip2 UTSW 13 100,298,489 (GRCm39) missense possibly damaging 0.63
R1644:Naip2 UTSW 13 100,319,437 (GRCm39) missense possibly damaging 0.83
R1681:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1681:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1891:Naip2 UTSW 13 100,291,395 (GRCm39) missense probably benign 0.00
R1913:Naip2 UTSW 13 100,288,665 (GRCm39) critical splice acceptor site probably null
R1937:Naip2 UTSW 13 100,298,368 (GRCm39) missense probably benign 0.00
R1937:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign
R1993:Naip2 UTSW 13 100,298,515 (GRCm39) missense probably benign 0.03
R2001:Naip2 UTSW 13 100,281,096 (GRCm39) missense probably damaging 1.00
R2055:Naip2 UTSW 13 100,315,880 (GRCm39) missense probably benign 0.07
R2198:Naip2 UTSW 13 100,289,100 (GRCm39) missense probably damaging 1.00
R2906:Naip2 UTSW 13 100,298,504 (GRCm39) missense probably damaging 1.00
R2931:Naip2 UTSW 13 100,291,529 (GRCm39) missense probably benign 0.00
R3014:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R3016:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R3037:Naip2 UTSW 13 100,291,457 (GRCm39) missense probably benign 0.08
R3414:Naip2 UTSW 13 100,325,771 (GRCm39) nonsense probably null
R3437:Naip2 UTSW 13 100,291,419 (GRCm39) missense probably benign 0.03
R3713:Naip2 UTSW 13 100,298,410 (GRCm39) missense probably damaging 1.00
R3806:Naip2 UTSW 13 100,289,142 (GRCm39) missense possibly damaging 0.92
R3847:Naip2 UTSW 13 100,315,940 (GRCm39) missense probably damaging 1.00
R3847:Naip2 UTSW 13 100,315,941 (GRCm39) missense probably damaging 1.00
R3848:Naip2 UTSW 13 100,315,940 (GRCm39) missense probably damaging 1.00
R3848:Naip2 UTSW 13 100,315,941 (GRCm39) missense probably damaging 1.00
R3849:Naip2 UTSW 13 100,315,940 (GRCm39) missense probably damaging 1.00
R3849:Naip2 UTSW 13 100,315,941 (GRCm39) missense probably damaging 1.00
R3850:Naip2 UTSW 13 100,315,940 (GRCm39) missense probably damaging 1.00
R3850:Naip2 UTSW 13 100,315,941 (GRCm39) missense probably damaging 1.00
R3891:Naip2 UTSW 13 100,297,606 (GRCm39) missense probably damaging 0.99
R4419:Naip2 UTSW 13 100,297,133 (GRCm39) missense probably benign 0.03
R4456:Naip2 UTSW 13 100,291,419 (GRCm39) missense probably benign 0.03
R4458:Naip2 UTSW 13 100,291,419 (GRCm39) missense probably benign 0.03
R4689:Naip2 UTSW 13 100,285,320 (GRCm39) missense probably damaging 1.00
R4797:Naip2 UTSW 13 100,298,243 (GRCm39) missense probably damaging 1.00
R4852:Naip2 UTSW 13 100,298,044 (GRCm39) missense probably benign
R4922:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R5135:Naip2 UTSW 13 100,315,948 (GRCm39) missense probably damaging 0.98
R5185:Naip2 UTSW 13 100,325,859 (GRCm39) missense probably damaging 1.00
R5265:Naip2 UTSW 13 100,289,068 (GRCm39) missense probably damaging 1.00
R5451:Naip2 UTSW 13 100,325,368 (GRCm39) missense probably benign 0.12
R5521:Naip2 UTSW 13 100,291,422 (GRCm39) missense probably damaging 1.00
R5737:Naip2 UTSW 13 100,298,362 (GRCm39) missense probably benign 0.38
R6244:Naip2 UTSW 13 100,288,645 (GRCm39) missense probably damaging 1.00
R6478:Naip2 UTSW 13 100,298,549 (GRCm39) missense probably benign
R6480:Naip2 UTSW 13 100,298,549 (GRCm39) missense probably benign
R6481:Naip2 UTSW 13 100,298,549 (GRCm39) missense probably benign
R6490:Naip2 UTSW 13 100,297,193 (GRCm39) missense probably benign
R6653:Naip2 UTSW 13 100,288,644 (GRCm39) missense probably benign 0.00
R6653:Naip2 UTSW 13 100,298,352 (GRCm39) missense probably benign
R6768:Naip2 UTSW 13 100,314,832 (GRCm39) nonsense probably null
R6791:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R6793:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R6890:Naip2 UTSW 13 100,298,549 (GRCm39) missense probably benign
R7036:Naip2 UTSW 13 100,291,529 (GRCm39) missense probably benign 0.00
R7213:Naip2 UTSW 13 100,323,991 (GRCm39) missense probably damaging 1.00
R7342:Naip2 UTSW 13 100,325,864 (GRCm39) missense probably benign 0.09
R7445:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R7572:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R7699:Naip2 UTSW 13 100,296,877 (GRCm39) missense probably benign 0.00
R7840:Naip2 UTSW 13 100,280,917 (GRCm39) missense probably benign 0.14
R7874:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R7874:Naip2 UTSW 13 100,291,459 (GRCm39) missense probably benign 0.00
R8038:Naip2 UTSW 13 100,298,570 (GRCm39) missense probably benign 0.00
R8065:Naip2 UTSW 13 100,325,730 (GRCm39) missense probably damaging 1.00
R8094:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R8166:Naip2 UTSW 13 100,298,515 (GRCm39) missense probably benign 0.03
R8378:Naip2 UTSW 13 100,298,290 (GRCm39) missense probably benign 0.01
R8669:Naip2 UTSW 13 100,325,477 (GRCm39) missense probably benign 0.05
R8691:Naip2 UTSW 13 100,297,676 (GRCm39) missense probably damaging 1.00
R8716:Naip2 UTSW 13 100,280,914 (GRCm39) missense probably benign
R8720:Naip2 UTSW 13 100,298,630 (GRCm39) missense probably benign 0.04
R8888:Naip2 UTSW 13 100,325,644 (GRCm39) missense probably benign 0.01
R8895:Naip2 UTSW 13 100,325,644 (GRCm39) missense probably benign 0.01
R9031:Naip2 UTSW 13 100,314,776 (GRCm39) missense possibly damaging 0.55
R9072:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R9072:Naip2 UTSW 13 100,291,459 (GRCm39) missense probably benign 0.00
R9074:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R9074:Naip2 UTSW 13 100,291,459 (GRCm39) missense probably benign 0.00
R9077:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
R9077:Naip2 UTSW 13 100,291,459 (GRCm39) missense probably benign 0.00
R9176:Naip2 UTSW 13 100,298,707 (GRCm39) missense probably damaging 1.00
R9219:Naip2 UTSW 13 100,297,213 (GRCm39) missense probably benign 0.06
R9358:Naip2 UTSW 13 100,298,080 (GRCm39) missense probably damaging 1.00
R9371:Naip2 UTSW 13 100,298,354 (GRCm39) nonsense probably null
R9414:Naip2 UTSW 13 100,298,243 (GRCm39) missense probably damaging 1.00
R9415:Naip2 UTSW 13 100,298,243 (GRCm39) missense probably damaging 1.00
R9416:Naip2 UTSW 13 100,298,243 (GRCm39) missense probably damaging 1.00
R9708:Naip2 UTSW 13 100,298,087 (GRCm39) missense probably damaging 0.99
V5622:Naip2 UTSW 13 100,291,537 (GRCm39) intron probably benign
V5622:Naip2 UTSW 13 100,291,529 (GRCm39) missense probably benign 0.00
V5622:Naip2 UTSW 13 100,291,529 (GRCm39) missense probably benign 0.00
X0063:Naip2 UTSW 13 100,298,266 (GRCm39) missense probably damaging 1.00
Y5405:Naip2 UTSW 13 100,291,468 (GRCm39) missense probably benign
Z1088:Naip2 UTSW 13 100,298,417 (GRCm39) missense probably benign
Z1176:Naip2 UTSW 13 100,298,417 (GRCm39) missense probably benign
Z1176:Naip2 UTSW 13 100,298,101 (GRCm39) missense probably benign 0.02
Z1177:Naip2 UTSW 13 100,298,417 (GRCm39) missense probably benign
Z1177:Naip2 UTSW 13 100,289,137 (GRCm39) missense possibly damaging 0.65
Z1177:Naip2 UTSW 13 100,299,373 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16