Incidental Mutation 'IGL01010:Naip2'
ID 53928
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 # IGL01010
Quality Score
Status
Chromosome 13
Chromosomal Location 100280571-100338600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100291446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1164 (V1164D)
Ref Sequence ENSEMBL: ENSMUSP00000113890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067975] [ENSMUST00000117913] [ENSMUST00000167986]
AlphaFold Q9QUK4
Predicted Effect probably damaging
Transcript: ENSMUST00000067975
AA Change: V1164D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070827
Gene: ENSMUSG00000078945
AA Change: V1164D

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: V1164D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113890
Gene: ENSMUSG00000078945
AA Change: V1164D

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 benign
Transcript: ENSMUST00000167986
SMART Domains Protein: ENSMUSP00000125852
Gene: ENSMUSG00000078945

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221573
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,059 (GRCm39) S155R probably damaging Het
Acss3 G T 10: 106,859,710 (GRCm39) probably benign Het
Ano4 G A 10: 88,796,462 (GRCm39) T680I probably benign Het
Drosha C T 15: 12,827,375 (GRCm39) probably benign Het
Ehd3 A G 17: 74,134,484 (GRCm39) D281G probably damaging Het
Exoc5 A G 14: 49,275,212 (GRCm39) L196P probably damaging Het
Gal3st1 T C 11: 3,946,914 (GRCm39) probably benign Het
Gart G A 16: 91,439,980 (GRCm39) R4* probably null Het
Gm21738 T A 14: 19,417,361 (GRCm38) T56S probably benign Het
Gm3573 T A 14: 42,009,523 (GRCm39) I141L probably benign Het
Gpr6 A G 10: 40,947,147 (GRCm39) M145T probably benign Het
Kcns3 T C 12: 11,142,427 (GRCm39) M91V probably benign Het
Mtarc2 T G 1: 184,551,513 (GRCm39) I308L probably benign Het
Mto1 A G 9: 78,368,925 (GRCm39) K529R probably benign Het
Or2ag13 T C 7: 106,473,460 (GRCm39) probably benign Het
Or8k21 A T 2: 86,145,288 (GRCm39) I114N probably damaging Het
Plekha1 T C 7: 130,503,984 (GRCm39) probably benign Het
Psg26 T C 7: 18,212,255 (GRCm39) S367G possibly damaging Het
Rps6kb1 T C 11: 86,393,592 (GRCm39) M513V probably benign Het
Slitrk3 C T 3: 72,956,606 (GRCm39) G722D probably benign Het
Stag1 A G 9: 100,827,986 (GRCm39) E1005G probably benign Het
Tgfbr2 A T 9: 115,959,048 (GRCm39) L122Q possibly damaging Het
Traf2 G A 2: 25,410,450 (GRCm39) R400* probably null Het
Trim33 C T 3: 103,254,031 (GRCm39) Q153* probably null Het
Zmynd15 T C 11: 70,356,742 (GRCm39) Y551H probably damaging Het
Znrd2 A G 19: 5,781,293 (GRCm39) S78P probably damaging 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
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
IGL02315:Naip2 APN 13 100,297,744 (GRCm39) missense probably damaging 1.00
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 2013-06-28