Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Naip2'

258037

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

039614-MU

Accession Numbers

Essential gene?

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

Stock #

R1576 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100144063-100202092 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 100155029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125852 (fasta)

Gene Model

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

AlphaFold

Q9QUK4

Predicted Effect

probably benign
Transcript: ENSMUST00000067975

SMART Domains

Protein: ENSMUSP00000070827
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	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

SMART Domains

Protein: ENSMUSP00000113890
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	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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 22,808,467		probably benign	Het
Apol11a	T	A	15: 77,516,931	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,313,563	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,291,312	L75R	probably damaging	Het
Cfi	T	C	3: 129,873,050	V474A	probably damaging	Het
Dhx8	T	C	11: 101,752,319	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,584,502	H640L	probably benign	Het
Eif4g3	T	A	4: 138,096,870	M57K	probably damaging	Het
Emilin2	A	G	17: 71,255,117		probably null	Het
Epc1	T	C	18: 6,452,366	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,578,405	S1125I	probably damaging	Het
Fh1	G	A	1: 175,607,819	P366L	probably null	Het
Gata3	A	T	2: 9,863,196	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,657,241	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,669,685	T193S	probably benign	Het
Inpp5d	A	T	1: 87,681,558	I277F	probably damaging	Het
Itga5	T	C	15: 103,351,617	D616G	probably damaging	Het
Jade1	T	A	3: 41,591,807	V89E	probably damaging	Het
Lamb2	T	C	9: 108,480,307	S81P	probably damaging	Het
Lrrc19	G	A	4: 94,639,353	P207L	probably damaging	Het
Maea	A	G	5: 33,362,696	D147G	probably damaging	Het
Muc6	T	A	7: 141,634,524	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,084,556	Y453C	probably damaging	Het
Nap1l1	A	G	10: 111,494,820	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,538,216		probably null	Het
Nudt21	A	C	8: 94,028,833		probably null	Het
Nufip1	A	G	14: 76,134,870	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,356,703	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,284,167	S28P	probably damaging	Het
Polr2j	C	A	5: 136,120,028	N29K	probably damaging	Het
Ppp2r2a	A	G	14: 67,038,869		probably benign	Het
Ptprk	A	G	10: 28,551,651	D742G	probably damaging	Het
Pum2	A	G	12: 8,713,524	D227G	probably benign	Het
Rfxank	C	A	8: 70,134,303	R221L	possibly damaging	Het
Shank3	C	A	15: 89,503,663	Q317K	probably benign	Het
Slc22a17	A	G	14: 54,907,990	V460A	probably damaging	Het
Slc39a11	G	T	11: 113,559,535	D41E	probably damaging	Het
Spag17	T	C	3: 99,939,363	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,491,298	C319Y	possibly damaging	Het
Stk17b	G	T	1: 53,757,590	D339E	probably damaging	Het
Tagln2	A	G	1: 172,505,221	D25G	probably benign	Het
Ttn	C	T	2: 76,794,850	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568	E334G	possibly damaging	Het
Zfp316	T	C	5: 143,264,094	E138G	unknown	Het
Zfp879	T	A	11: 50,833,549	T227S	probably benign	Het

Other mutations in Naip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Naip2	APN	13	100154887	missense	probably benign	0.00
IGL00676:Naip2	APN	13	100152632	missense	probably damaging	1.00
IGL00870:Naip2	APN	13	100152060	splice site	probably benign
IGL00908:Naip2	APN	13	100160649	missense	probably benign	0.01
IGL00916:Naip2	APN	13	100161431	missense	probably damaging	0.97
IGL00949:Naip2	APN	13	100161591	missense	probably damaging	1.00
IGL01010:Naip2	APN	13	100154938	missense	probably damaging	0.99
IGL01642:Naip2	APN	13	100160937	missense	probably damaging	0.97
IGL01884:Naip2	APN	13	100188821	splice site	probably benign
IGL01917:Naip2	APN	13	100162083	missense	probably benign	0.00
IGL02015:Naip2	APN	13	100161607	missense	possibly damaging	0.57
IGL02315:Naip2	APN	13	100161236	missense	probably damaging	1.00
IGL02328:Naip2	APN	13	100161369	missense	probably damaging	1.00
IGL02735:Naip2	APN	13	100160214	missense	probably damaging	0.99
IGL02738:Naip2	APN	13	100189177	missense	probably benign	0.01
IGL02887:Naip2	APN	13	100161512	missense	possibly damaging	0.90
IGL02894:Naip2	APN	13	100160997	missense	probably damaging	1.00
IGL02894:Naip2	APN	13	100183789	missense	probably benign
IGL02974:Naip2	APN	13	100161678	missense	probably damaging	1.00
IGL03024:Naip2	APN	13	100189354	missense	possibly damaging	0.50
IGL03056:Naip2	APN	13	100162287	missense	possibly damaging	0.90
IGL03281:Naip2	APN	13	100161620	missense	probably damaging	0.99
R0131:Naip2	UTSW	13	100183788	missense	probably benign	0.01
R0131:Naip2	UTSW	13	100183788	missense	probably benign	0.01
R0132:Naip2	UTSW	13	100183788	missense	probably benign	0.01
R0310:Naip2	UTSW	13	100148842	missense	probably damaging	1.00
R0367:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0368:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0422:Naip2	UTSW	13	100161113	missense	probably benign	0.10
R0441:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0445:Naip2	UTSW	13	100161887	missense	possibly damaging	0.91
R0446:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0464:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0466:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0467:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0486:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0533:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R0853:Naip2	UTSW	13	100161854	missense	probably benign
R0853:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R0855:Naip2	UTSW	13	100161854	missense	probably benign
R0855:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R0904:Naip2	UTSW	13	100161854	missense	probably benign
R0904:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R0906:Naip2	UTSW	13	100161854	missense	probably benign
R0906:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R0908:Naip2	UTSW	13	100161854	missense	probably benign
R0908:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R0959:Naip2	UTSW	13	100154878	missense	probably benign	0.01
R0959:Naip2	UTSW	13	100154911	missense	probably benign	0.03
R0962:Naip2	UTSW	13	100179385	missense	probably damaging	1.00
R1024:Naip2	UTSW	13	100161854	missense	probably benign
R1024:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1186:Naip2	UTSW	13	100161981	missense	possibly damaging	0.63
R1186:Naip2	UTSW	13	100162037	frame shift	probably null
R1217:Naip2	UTSW	13	100161854	missense	probably benign
R1217:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1340:Naip2	UTSW	13	100189122	missense	possibly damaging	0.80
R1342:Naip2	UTSW	13	100161854	missense	probably benign
R1342:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1404:Naip2	UTSW	13	100161854	missense	probably benign
R1423:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1423:Naip2	UTSW	13	100154847	intron	probably benign
R1423:Naip2	UTSW	13	100154872	missense	possibly damaging	0.59
R1423:Naip2	UTSW	13	100154878	missense	probably benign	0.01
R1426:Naip2	UTSW	13	100161854	missense	probably benign
R1426:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1472:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1575:Naip2	UTSW	13	100155021	missense	probably benign	0.00
R1575:Naip2	UTSW	13	100155029	intron	probably benign
R1576:Naip2	UTSW	13	100155021	missense	probably benign	0.00
R1599:Naip2	UTSW	13	100161981	missense	possibly damaging	0.63
R1640:Naip2	UTSW	13	100161981	missense	possibly damaging	0.63
R1641:Naip2	UTSW	13	100161981	missense	possibly damaging	0.63
R1642:Naip2	UTSW	13	100161981	missense	possibly damaging	0.63
R1643:Naip2	UTSW	13	100161981	missense	possibly damaging	0.63
R1644:Naip2	UTSW	13	100182929	missense	possibly damaging	0.83
R1681:Naip2	UTSW	13	100161854	missense	probably benign
R1681:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1891:Naip2	UTSW	13	100154887	missense	probably benign	0.00
R1913:Naip2	UTSW	13	100152157	critical splice acceptor site	probably null
R1937:Naip2	UTSW	13	100161854	missense	probably benign
R1937:Naip2	UTSW	13	100161860	missense	probably benign	0.00
R1993:Naip2	UTSW	13	100162007	missense	probably benign	0.03
R2001:Naip2	UTSW	13	100144588	missense	probably damaging	1.00
R2055:Naip2	UTSW	13	100179372	missense	probably benign	0.07
R2198:Naip2	UTSW	13	100152592	missense	probably damaging	1.00
R2906:Naip2	UTSW	13	100161996	missense	probably damaging	1.00
R2931:Naip2	UTSW	13	100155021	missense	probably benign	0.00
R3014:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R3016:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R3037:Naip2	UTSW	13	100154949	missense	probably benign	0.08
R3414:Naip2	UTSW	13	100189263	nonsense	probably null
R3437:Naip2	UTSW	13	100154911	missense	probably benign	0.03
R3713:Naip2	UTSW	13	100161902	missense	probably damaging	1.00
R3806:Naip2	UTSW	13	100152634	missense	possibly damaging	0.92
R3847:Naip2	UTSW	13	100179432	missense	probably damaging	1.00
R3847:Naip2	UTSW	13	100179433	missense	probably damaging	1.00
R3848:Naip2	UTSW	13	100179432	missense	probably damaging	1.00
R3848:Naip2	UTSW	13	100179433	missense	probably damaging	1.00
R3849:Naip2	UTSW	13	100179432	missense	probably damaging	1.00
R3849:Naip2	UTSW	13	100179433	missense	probably damaging	1.00
R3850:Naip2	UTSW	13	100179432	missense	probably damaging	1.00
R3850:Naip2	UTSW	13	100179433	missense	probably damaging	1.00
R3891:Naip2	UTSW	13	100161098	missense	probably damaging	0.99
R4419:Naip2	UTSW	13	100160625	missense	probably benign	0.03
R4456:Naip2	UTSW	13	100154911	missense	probably benign	0.03
R4458:Naip2	UTSW	13	100154911	missense	probably benign	0.03
R4689:Naip2	UTSW	13	100148812	missense	probably damaging	1.00
R4797:Naip2	UTSW	13	100161735	missense	probably damaging	1.00
R4852:Naip2	UTSW	13	100161536	missense	probably benign
R4922:Naip2	UTSW	13	100154960	missense	probably benign
R5135:Naip2	UTSW	13	100179440	missense	probably damaging	0.98
R5185:Naip2	UTSW	13	100189351	missense	probably damaging	1.00
R5265:Naip2	UTSW	13	100152560	missense	probably damaging	1.00
R5451:Naip2	UTSW	13	100188860	missense	probably benign	0.12
R5521:Naip2	UTSW	13	100154914	missense	probably damaging	1.00
R5737:Naip2	UTSW	13	100161854	missense	probably benign	0.38
R6244:Naip2	UTSW	13	100152137	missense	probably damaging	1.00
R6478:Naip2	UTSW	13	100162041	missense	probably benign
R6480:Naip2	UTSW	13	100162041	missense	probably benign
R6481:Naip2	UTSW	13	100162041	missense	probably benign
R6490:Naip2	UTSW	13	100160685	missense	probably benign
R6653:Naip2	UTSW	13	100152136	missense	probably benign	0.00
R6653:Naip2	UTSW	13	100161844	missense	probably benign
R6768:Naip2	UTSW	13	100178324	nonsense	probably null
R6791:Naip2	UTSW	13	100154960	missense	probably benign
R6793:Naip2	UTSW	13	100154960	missense	probably benign
R6890:Naip2	UTSW	13	100162041	missense	probably benign
R7036:Naip2	UTSW	13	100155021	missense	probably benign	0.00
R7213:Naip2	UTSW	13	100187483	missense	probably damaging	1.00
R7342:Naip2	UTSW	13	100189356	missense	probably benign	0.09
R7445:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R7572:Naip2	UTSW	13	100154960	missense	probably benign
R7699:Naip2	UTSW	13	100160369	missense	probably benign	0.00
R7840:Naip2	UTSW	13	100144409	missense	probably benign	0.14
R7874:Naip2	UTSW	13	100154951	missense	probably benign	0.00
R7874:Naip2	UTSW	13	100154960	missense	probably benign
R8038:Naip2	UTSW	13	100162062	missense	probably benign	0.00
R8065:Naip2	UTSW	13	100189222	missense	probably damaging	1.00
R8094:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R8166:Naip2	UTSW	13	100162007	missense	probably benign	0.03
R8378:Naip2	UTSW	13	100161782	missense	probably benign	0.01
R8669:Naip2	UTSW	13	100188969	missense	probably benign	0.05
R8691:Naip2	UTSW	13	100161168	missense	probably damaging	1.00
R8716:Naip2	UTSW	13	100144406	missense	probably benign
R8720:Naip2	UTSW	13	100162122	missense	probably benign	0.04
R8888:Naip2	UTSW	13	100189136	missense	probably benign	0.01
R8895:Naip2	UTSW	13	100189136	missense	probably benign	0.01
R9031:Naip2	UTSW	13	100178268	missense	possibly damaging	0.55
R9072:Naip2	UTSW	13	100154951	missense	probably benign	0.00
R9072:Naip2	UTSW	13	100154960	missense	probably benign
R9074:Naip2	UTSW	13	100154951	missense	probably benign	0.00
R9074:Naip2	UTSW	13	100154960	missense	probably benign
R9077:Naip2	UTSW	13	100154951	missense	probably benign	0.00
R9077:Naip2	UTSW	13	100154960	missense	probably benign
R9176:Naip2	UTSW	13	100162199	missense	probably damaging	1.00
R9219:Naip2	UTSW	13	100160705	missense	probably benign	0.06
R9358:Naip2	UTSW	13	100161572	missense	probably damaging	1.00
R9371:Naip2	UTSW	13	100161846	nonsense	probably null
R9414:Naip2	UTSW	13	100161735	missense	probably damaging	1.00
R9415:Naip2	UTSW	13	100161735	missense	probably damaging	1.00
R9416:Naip2	UTSW	13	100161735	missense	probably damaging	1.00
R9708:Naip2	UTSW	13	100161579	missense	probably damaging	0.99
V5622:Naip2	UTSW	13	100155021	missense	probably benign	0.00
V5622:Naip2	UTSW	13	100155021	missense	probably benign	0.00
V5622:Naip2	UTSW	13	100155029	intron	probably benign
X0063:Naip2	UTSW	13	100161758	missense	probably damaging	1.00
Y5405:Naip2	UTSW	13	100154960	missense	probably benign
Z1088:Naip2	UTSW	13	100161909	missense	probably benign
Z1176:Naip2	UTSW	13	100161593	missense	probably benign	0.02
Z1176:Naip2	UTSW	13	100161909	missense	probably benign
Z1177:Naip2	UTSW	13	100152629	missense	possibly damaging	0.65
Z1177:Naip2	UTSW	13	100161909	missense	probably benign
Z1177:Naip2	UTSW	13	100162865	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTGAACTGGAGATCAAGCACCATC -3'
(R):5'- TGTGAGTCTAGAGTCCAGCACAGG -3'

Sequencing Primer
(F):5'- CATCCCTTACCTAGTTTGGAGAG -3'
(R):5'- ACAGGGCTTGCCCTAGAG -3'

Posted On

2015-01-21