Incidental Mutation 'IGL00949:Naip2'
ID 28871
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 # IGL00949
Quality Score
Status
Chromosome 13
Chromosomal Location 100280571-100338600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100298099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 646 (F646L)
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: F646L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070827
Gene: ENSMUSG00000078945
AA Change: F646L

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: F646L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113890
Gene: ENSMUSG00000078945
AA Change: F646L

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: F646L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125852
Gene: ENSMUSG00000078945
AA Change: F646L

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 141,126,325 (GRCm39) C303R probably damaging Het
Als2 C T 1: 59,254,731 (GRCm39) G209S probably damaging Het
Ankrd11 T C 8: 123,635,467 (GRCm39) T56A possibly damaging Het
Arnt T A 3: 95,394,579 (GRCm39) I381N probably damaging Het
Atp13a1 T C 8: 70,252,653 (GRCm39) probably benign Het
Cd180 A T 13: 102,830,268 (GRCm39) T21S possibly damaging Het
Cdc27 T C 11: 104,420,229 (GRCm39) Y138C probably damaging Het
Dhx16 A G 17: 36,198,826 (GRCm39) T753A probably benign Het
Dnah1 A G 14: 31,029,047 (GRCm39) M561T probably benign Het
Dsc3 C A 18: 20,118,688 (GRCm39) G259C probably null Het
Enox2 A T X: 48,129,484 (GRCm39) D346E probably benign Het
Exoc3l T C 8: 106,017,130 (GRCm39) E619G probably benign Het
Exosc9 T C 3: 36,617,415 (GRCm39) probably benign Het
Gmpr2 C T 14: 55,914,207 (GRCm39) probably benign Het
Golga1 T C 2: 38,931,267 (GRCm39) E289G probably damaging Het
H3c1 G A 13: 23,946,014 (GRCm39) T108I probably damaging Het
Jmy A G 13: 93,590,510 (GRCm39) V531A probably damaging Het
Lamp2 T C X: 37,524,350 (GRCm39) N156S probably benign Het
Lrrn1 C A 6: 107,546,261 (GRCm39) N686K probably benign Het
Lyst T C 13: 13,810,070 (GRCm39) V580A possibly damaging Het
Ms4a8a C A 19: 11,056,808 (GRCm39) L91F probably benign Het
Npat T C 9: 53,474,662 (GRCm39) V818A probably benign Het
Or2w4 A T 13: 21,795,521 (GRCm39) I206N probably damaging Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Pid1 A G 1: 84,016,227 (GRCm39) V46A probably damaging Het
Pld5 A T 1: 175,803,039 (GRCm39) C409S probably damaging Het
Plet1 A G 9: 50,410,523 (GRCm39) T105A possibly damaging Het
Polrmt T C 10: 79,573,431 (GRCm39) probably null Het
Pp2d1 T C 17: 53,822,667 (GRCm39) N133S probably benign Het
Prpf40b G T 15: 99,204,419 (GRCm39) V228L probably benign Het
Ptgfrn A T 3: 100,980,161 (GRCm39) M393K probably benign Het
Slc9a1 C T 4: 133,143,762 (GRCm39) T416I probably benign Het
Slc9c1 T C 16: 45,413,721 (GRCm39) S950P probably benign Het
Slitrk1 A T 14: 109,149,241 (GRCm39) V490D probably damaging Het
Th T C 7: 142,450,763 (GRCm39) Y131C probably benign Het
Tlr6 A G 5: 65,110,855 (GRCm39) L684P probably damaging Het
Tpm3 A G 3: 89,997,165 (GRCm39) E234G probably damaging Het
Tti1 A G 2: 157,824,319 (GRCm39) Y1045H probably benign Het
Txnl4b T A 8: 110,295,707 (GRCm39) V37D probably benign Het
Ufl1 A T 4: 25,275,822 (GRCm39) F194I probably damaging Het
Usp13 G A 3: 32,940,726 (GRCm39) E412K possibly damaging Het
Usp46 A T 5: 74,163,903 (GRCm39) L251Q possibly 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
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
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 2013-04-17