Mutagenetix > Incidental Mutation

Incidental Mutation 'V5622:Naip2'

500358

Institutional Source

Beutler Lab

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 #

V5622 () of strain 521

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

100280571-100338600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100291529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1136 (D1136E)

Ref Sequence

ENSEMBL: ENSMUSP00000113890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067975] [ENSMUST00000117913] [ENSMUST00000167986]

AlphaFold

Q9QUK4

Predicted Effect

probably benign
Transcript: ENSMUST00000067975
AA Change: D1136E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000070827
Gene: ENSMUSG00000078945
AA Change: D1136E

Domain	Start	End	E-Value	Type
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: ENSMUST00000117913
AA Change: D1136E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113890
Gene: ENSMUSG00000078945
AA Change: D1136E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 94.1%
3x: 94.1%
10x: 94.0%
20x: 93.9%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 148,026,233 (GRCm39)	S251F	probably benign	Het
Ccar2	G	T	14: 70,388,738 (GRCm39)	L158I	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Gm10719	A	G	9: 3,021,253 (GRCm39)		probably null	Het
Gm10720	A	C	9: 3,015,669 (GRCm39)	N6H	probably benign	Het
Gm21738	C	T	14: 19,417,180 (GRCm38)	C116Y	probably damaging	Het
Gm8688	T	G	8: 100,391,152 (GRCm39)		noncoding transcript	Het
Hjurp	A	G	1: 88,205,247 (GRCm39)		probably benign	Het
Hspg2	C	A	4: 137,261,049 (GRCm39)	Q1648K	probably damaging	Het
Hvcn1	TGAGGAGGAGGAGGAGGAG	TGAGGAGGAGGAGGAG	5: 122,371,602 (GRCm39)		probably benign	Het
Megf11	C	A	9: 64,597,351 (GRCm39)	C674*	probably null	Het
Mroh2a	C	T	1: 88,154,813 (GRCm39)		probably benign	Het
Muc4	T	C	16: 32,570,643 (GRCm39)	S568P	probably benign	Het
Npm1	C	T	11: 33,111,186 (GRCm39)	V60I	probably benign	Het
Ppp2r5a	G	A	1: 191,091,189 (GRCm39)	R213W	probably damaging	Het
Ppp2r5a	C	T	1: 191,091,198 (GRCm39)	V210I	probably benign	Het
Trim43b	T	C	9: 88,974,598 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,565,201 (GRCm39)	S363P	probably damaging	Het
Vmn2r115	T	C	17: 23,578,333 (GRCm39)	I602T	probably benign	Het
Vmn2r117	C	T	17: 23,696,814 (GRCm39)	A198T	probably damaging	Het
Vmn2r117	C	G	17: 23,698,479 (GRCm39)	Q31H	possibly damaging	Het
Vmn2r88	C	G	14: 51,650,584 (GRCm39)	T99S	probably benign	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp180	A	G	7: 23,781,456 (GRCm39)		probably benign	Het
Zfp268	C	T	4: 145,311,891 (GRCm39)		probably benign	Het

Other mutations in Naip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

Posted On

2017-12-01