Mutagenetix > Incidental Mutation

Incidental Mutation 'R5737:Naip2'

444593

Institutional Source

Beutler Lab

Gene Symbol

Naip2

Ensembl Gene

ENSMUSG00000078945

Gene Name

NLR family, apoptosis inhibitory protein 2

Synonyms

Birc1b, Naip2, Naip-rs6

MMRRC Submission

043195-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R5737 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100144063-100202092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100161854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 558 (E558V)

Ref Sequence

ENSEMBL: ENSMUSP00000125852 (fasta)

Gene Model

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

AlphaFold

Q9QUK4

Predicted Effect

probably benign
Transcript: ENSMUST00000067975
AA Change: E558V

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070827
Gene: ENSMUSG00000078945
AA Change: E558V

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: E558V

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113890
Gene: ENSMUSG00000078945
AA Change: E558V

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
AA Change: E558V

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125852
Gene: ENSMUSG00000078945
AA Change: E558V

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,559,242	V78A	probably damaging	Het
5830473C10Rik	G	T	5: 90,572,783	C271F	probably damaging	Het
Aldh1l2	T	A	10: 83,520,325	D67V	probably damaging	Het
Ankfy1	T	A	11: 72,732,274	D253E	probably damaging	Het
Arhgap42	T	C	9: 9,059,068	K159R	probably damaging	Het
Atrnl1	C	T	19: 57,777,888	A1219V	possibly damaging	Het
Cacna1c	C	T	6: 118,741,932	V386I	probably damaging	Het
Cacna2d2	A	G	9: 107,526,747	T1015A	possibly damaging	Het
Cadps2	T	C	6: 23,328,805	M999V	probably benign	Het
Ccer1	A	T	10: 97,694,684	H403L	possibly damaging	Het
Cubn	A	T	2: 13,388,891	I1433N	probably damaging	Het
Dcbld2	T	C	16: 58,460,985	V531A	probably damaging	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Dnah3	T	C	7: 120,059,198	K920R	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dscaml1	C	T	9: 45,745,185	R1608C	probably damaging	Het
Gtf3c2	A	G	5: 31,168,249		probably null	Het
Heca	A	T	10: 17,915,714	M198K	possibly damaging	Het
Igkv8-24	A	T	6: 70,217,138	S29T	probably benign	Het
Lipo2	A	C	19: 33,721,696	N311K	probably damaging	Het
Lmo7	T	G	14: 101,887,236	I266S	probably damaging	Het
Nelfa	T	A	5: 33,899,113		probably null	Het
Phka2	ACC	AC	X: 160,559,866		probably null	Het
Psmg2	T	C	18: 67,646,037	S92P	possibly damaging	Het
Rasa2	C	T	9: 96,570,665		probably null	Het
Slc6a3	A	C	13: 73,544,804	N181T	probably damaging	Het
Smim4	A	G	14: 31,128,719	I22T	probably benign	Het
Tdrd5	A	G	1: 156,300,724	M136T	probably benign	Het
Tmem178b	A	C	6: 40,245,641	M97L	possibly damaging	Het
Tnfaip8l1	A	G	17: 56,171,950	D80G	probably benign	Het
Tomt	T	C	7: 101,900,317	T255A	probably benign	Het
Vmn2r26	G	T	6: 124,039,449	V291F	probably benign	Het

Other mutations in Naip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Naip2	APN	13	100,154,887 (GRCm38)	missense	probably benign	0.00
IGL00676:Naip2	APN	13	100,152,632 (GRCm38)	missense	probably damaging	1.00
IGL00870:Naip2	APN	13	100,152,060 (GRCm38)	splice site	probably benign
IGL00908:Naip2	APN	13	100,160,649 (GRCm38)	missense	probably benign	0.01
IGL00916:Naip2	APN	13	100,161,431 (GRCm38)	missense	probably damaging	0.97
IGL00949:Naip2	APN	13	100,161,591 (GRCm38)	missense	probably damaging	1.00
IGL01010:Naip2	APN	13	100,154,938 (GRCm38)	missense	probably damaging	0.99
IGL01642:Naip2	APN	13	100,160,937 (GRCm38)	missense	probably damaging	0.97
IGL01884:Naip2	APN	13	100,188,821 (GRCm38)	splice site	probably benign
IGL01917:Naip2	APN	13	100,162,083 (GRCm38)	missense	probably benign	0.00
IGL02015:Naip2	APN	13	100,161,607 (GRCm38)	missense	possibly damaging	0.57
IGL02315:Naip2	APN	13	100,161,236 (GRCm38)	missense	probably damaging	1.00
IGL02328:Naip2	APN	13	100,161,369 (GRCm38)	missense	probably damaging	1.00
IGL02735:Naip2	APN	13	100,160,214 (GRCm38)	missense	probably damaging	0.99
IGL02738:Naip2	APN	13	100,189,177 (GRCm38)	missense	probably benign	0.01
IGL02887:Naip2	APN	13	100,161,512 (GRCm38)	missense	possibly damaging	0.90
IGL02894:Naip2	APN	13	100,183,789 (GRCm38)	missense	probably benign
IGL02894:Naip2	APN	13	100,160,997 (GRCm38)	missense	probably damaging	1.00
IGL02974:Naip2	APN	13	100,161,678 (GRCm38)	missense	probably damaging	1.00
IGL03024:Naip2	APN	13	100,189,354 (GRCm38)	missense	possibly damaging	0.50
IGL03056:Naip2	APN	13	100,162,287 (GRCm38)	missense	possibly damaging	0.90
IGL03281:Naip2	APN	13	100,161,620 (GRCm38)	missense	probably damaging	0.99
R0131:Naip2	UTSW	13	100,183,788 (GRCm38)	missense	probably benign	0.01
R0131:Naip2	UTSW	13	100,183,788 (GRCm38)	missense	probably benign	0.01
R0132:Naip2	UTSW	13	100,183,788 (GRCm38)	missense	probably benign	0.01
R0310:Naip2	UTSW	13	100,148,842 (GRCm38)	missense	probably damaging	1.00
R0367:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0368:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0422:Naip2	UTSW	13	100,161,113 (GRCm38)	missense	probably benign	0.10
R0441:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0445:Naip2	UTSW	13	100,161,887 (GRCm38)	missense	possibly damaging	0.91
R0446:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0464:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0466:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0467:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0486:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0533:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R0853:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R0853:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R0855:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R0855:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R0904:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R0904:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R0906:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R0906:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R0908:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R0908:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R0959:Naip2	UTSW	13	100,154,911 (GRCm38)	missense	probably benign	0.03
R0959:Naip2	UTSW	13	100,154,878 (GRCm38)	missense	probably benign	0.01
R0962:Naip2	UTSW	13	100,179,385 (GRCm38)	missense	probably damaging	1.00
R1024:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1024:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1186:Naip2	UTSW	13	100,162,037 (GRCm38)	frame shift	probably null
R1186:Naip2	UTSW	13	100,161,981 (GRCm38)	missense	possibly damaging	0.63
R1217:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1217:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1340:Naip2	UTSW	13	100,189,122 (GRCm38)	missense	possibly damaging	0.80
R1342:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1342:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1404:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1423:Naip2	UTSW	13	100,154,847 (GRCm38)	intron	probably benign
R1423:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1423:Naip2	UTSW	13	100,154,878 (GRCm38)	missense	probably benign	0.01
R1423:Naip2	UTSW	13	100,154,872 (GRCm38)	missense	possibly damaging	0.59
R1426:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1426:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1472:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1575:Naip2	UTSW	13	100,155,029 (GRCm38)	intron	probably benign
R1575:Naip2	UTSW	13	100,155,021 (GRCm38)	missense	probably benign	0.00
R1576:Naip2	UTSW	13	100,155,021 (GRCm38)	missense	probably benign	0.00
R1576:Naip2	UTSW	13	100,155,029 (GRCm38)	intron	probably benign
R1599:Naip2	UTSW	13	100,161,981 (GRCm38)	missense	possibly damaging	0.63
R1640:Naip2	UTSW	13	100,161,981 (GRCm38)	missense	possibly damaging	0.63
R1641:Naip2	UTSW	13	100,161,981 (GRCm38)	missense	possibly damaging	0.63
R1642:Naip2	UTSW	13	100,161,981 (GRCm38)	missense	possibly damaging	0.63
R1643:Naip2	UTSW	13	100,161,981 (GRCm38)	missense	possibly damaging	0.63
R1644:Naip2	UTSW	13	100,182,929 (GRCm38)	missense	possibly damaging	0.83
R1681:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1681:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1891:Naip2	UTSW	13	100,154,887 (GRCm38)	missense	probably benign	0.00
R1913:Naip2	UTSW	13	100,152,157 (GRCm38)	critical splice acceptor site	probably null
R1937:Naip2	UTSW	13	100,161,860 (GRCm38)	missense	probably benign	0.00
R1937:Naip2	UTSW	13	100,161,854 (GRCm38)	missense	probably benign
R1993:Naip2	UTSW	13	100,162,007 (GRCm38)	missense	probably benign	0.03
R2001:Naip2	UTSW	13	100,144,588 (GRCm38)	missense	probably damaging	1.00
R2055:Naip2	UTSW	13	100,179,372 (GRCm38)	missense	probably benign	0.07
R2198:Naip2	UTSW	13	100,152,592 (GRCm38)	missense	probably damaging	1.00
R2906:Naip2	UTSW	13	100,161,996 (GRCm38)	missense	probably damaging	1.00
R2931:Naip2	UTSW	13	100,155,021 (GRCm38)	missense	probably benign	0.00
R3014:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R3016:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R3037:Naip2	UTSW	13	100,154,949 (GRCm38)	missense	probably benign	0.08
R3414:Naip2	UTSW	13	100,189,263 (GRCm38)	nonsense	probably null
R3437:Naip2	UTSW	13	100,154,911 (GRCm38)	missense	probably benign	0.03
R3713:Naip2	UTSW	13	100,161,902 (GRCm38)	missense	probably damaging	1.00
R3806:Naip2	UTSW	13	100,152,634 (GRCm38)	missense	possibly damaging	0.92
R3847:Naip2	UTSW	13	100,179,432 (GRCm38)	missense	probably damaging	1.00
R3847:Naip2	UTSW	13	100,179,433 (GRCm38)	missense	probably damaging	1.00
R3848:Naip2	UTSW	13	100,179,432 (GRCm38)	missense	probably damaging	1.00
R3848:Naip2	UTSW	13	100,179,433 (GRCm38)	missense	probably damaging	1.00
R3849:Naip2	UTSW	13	100,179,432 (GRCm38)	missense	probably damaging	1.00
R3849:Naip2	UTSW	13	100,179,433 (GRCm38)	missense	probably damaging	1.00
R3850:Naip2	UTSW	13	100,179,432 (GRCm38)	missense	probably damaging	1.00
R3850:Naip2	UTSW	13	100,179,433 (GRCm38)	missense	probably damaging	1.00
R3891:Naip2	UTSW	13	100,161,098 (GRCm38)	missense	probably damaging	0.99
R4419:Naip2	UTSW	13	100,160,625 (GRCm38)	missense	probably benign	0.03
R4456:Naip2	UTSW	13	100,154,911 (GRCm38)	missense	probably benign	0.03
R4458:Naip2	UTSW	13	100,154,911 (GRCm38)	missense	probably benign	0.03
R4689:Naip2	UTSW	13	100,148,812 (GRCm38)	missense	probably damaging	1.00
R4797:Naip2	UTSW	13	100,161,735 (GRCm38)	missense	probably damaging	1.00
R4852:Naip2	UTSW	13	100,161,536 (GRCm38)	missense	probably benign
R4922:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R5135:Naip2	UTSW	13	100,179,440 (GRCm38)	missense	probably damaging	0.98
R5185:Naip2	UTSW	13	100,189,351 (GRCm38)	missense	probably damaging	1.00
R5265:Naip2	UTSW	13	100,152,560 (GRCm38)	missense	probably damaging	1.00
R5451:Naip2	UTSW	13	100,188,860 (GRCm38)	missense	probably benign	0.12
R5521:Naip2	UTSW	13	100,154,914 (GRCm38)	missense	probably damaging	1.00
R6244:Naip2	UTSW	13	100,152,137 (GRCm38)	missense	probably damaging	1.00
R6478:Naip2	UTSW	13	100,162,041 (GRCm38)	missense	probably benign
R6480:Naip2	UTSW	13	100,162,041 (GRCm38)	missense	probably benign
R6481:Naip2	UTSW	13	100,162,041 (GRCm38)	missense	probably benign
R6490:Naip2	UTSW	13	100,160,685 (GRCm38)	missense	probably benign
R6653:Naip2	UTSW	13	100,152,136 (GRCm38)	missense	probably benign	0.00
R6653:Naip2	UTSW	13	100,161,844 (GRCm38)	missense	probably benign
R6768:Naip2	UTSW	13	100,178,324 (GRCm38)	nonsense	probably null
R6791:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R6793:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R6890:Naip2	UTSW	13	100,162,041 (GRCm38)	missense	probably benign
R7036:Naip2	UTSW	13	100,155,021 (GRCm38)	missense	probably benign	0.00
R7213:Naip2	UTSW	13	100,187,483 (GRCm38)	missense	probably damaging	1.00
R7342:Naip2	UTSW	13	100,189,356 (GRCm38)	missense	probably benign	0.09
R7445:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R7572:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R7699:Naip2	UTSW	13	100,160,369 (GRCm38)	missense	probably benign	0.00
R7840:Naip2	UTSW	13	100,144,409 (GRCm38)	missense	probably benign	0.14
R7874:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R7874:Naip2	UTSW	13	100,154,951 (GRCm38)	missense	probably benign	0.00
R8038:Naip2	UTSW	13	100,162,062 (GRCm38)	missense	probably benign	0.00
R8065:Naip2	UTSW	13	100,189,222 (GRCm38)	missense	probably damaging	1.00
R8094:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R8166:Naip2	UTSW	13	100,162,007 (GRCm38)	missense	probably benign	0.03
R8378:Naip2	UTSW	13	100,161,782 (GRCm38)	missense	probably benign	0.01
R8669:Naip2	UTSW	13	100,188,969 (GRCm38)	missense	probably benign	0.05
R8691:Naip2	UTSW	13	100,161,168 (GRCm38)	missense	probably damaging	1.00
R8716:Naip2	UTSW	13	100,144,406 (GRCm38)	missense	probably benign
R8720:Naip2	UTSW	13	100,162,122 (GRCm38)	missense	probably benign	0.04
R8888:Naip2	UTSW	13	100,189,136 (GRCm38)	missense	probably benign	0.01
R8895:Naip2	UTSW	13	100,189,136 (GRCm38)	missense	probably benign	0.01
R9031:Naip2	UTSW	13	100,178,268 (GRCm38)	missense	possibly damaging	0.55
R9072:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R9072:Naip2	UTSW	13	100,154,951 (GRCm38)	missense	probably benign	0.00
R9074:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R9074:Naip2	UTSW	13	100,154,951 (GRCm38)	missense	probably benign	0.00
R9077:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
R9077:Naip2	UTSW	13	100,154,951 (GRCm38)	missense	probably benign	0.00
R9176:Naip2	UTSW	13	100,162,199 (GRCm38)	missense	probably damaging	1.00
R9219:Naip2	UTSW	13	100,160,705 (GRCm38)	missense	probably benign	0.06
R9358:Naip2	UTSW	13	100,161,572 (GRCm38)	missense	probably damaging	1.00
R9371:Naip2	UTSW	13	100,161,846 (GRCm38)	nonsense	probably null
R9414:Naip2	UTSW	13	100,161,735 (GRCm38)	missense	probably damaging	1.00
R9415:Naip2	UTSW	13	100,161,735 (GRCm38)	missense	probably damaging	1.00
R9416:Naip2	UTSW	13	100,161,735 (GRCm38)	missense	probably damaging	1.00
R9708:Naip2	UTSW	13	100,161,579 (GRCm38)	missense	probably damaging	0.99
V5622:Naip2	UTSW	13	100,155,029 (GRCm38)	intron	probably benign
V5622:Naip2	UTSW	13	100,155,021 (GRCm38)	missense	probably benign	0.00
V5622:Naip2	UTSW	13	100,155,021 (GRCm38)	missense	probably benign	0.00
X0063:Naip2	UTSW	13	100,161,758 (GRCm38)	missense	probably damaging	1.00
Y5405:Naip2	UTSW	13	100,154,960 (GRCm38)	missense	probably benign
Z1088:Naip2	UTSW	13	100,161,909 (GRCm38)	missense	probably benign
Z1176:Naip2	UTSW	13	100,161,909 (GRCm38)	missense	probably benign
Z1176:Naip2	UTSW	13	100,161,593 (GRCm38)	missense	probably benign	0.02
Z1177:Naip2	UTSW	13	100,161,909 (GRCm38)	missense	probably benign
Z1177:Naip2	UTSW	13	100,152,629 (GRCm38)	missense	possibly damaging	0.65
Z1177:Naip2	UTSW	13	100,162,865 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGACCTTGTTTGTATGCACAGC -3'
(R):5'- TGACGATCCCTGAGGTCTTC -3'

Sequencing Primer
(F):5'- TCAATAAGCAGGTCCGTGAC -3'
(R):5'- TGAGGTCTTCTCCAATCTCAAC -3'

Posted On

2016-11-21