Mutagenetix > Incidental Mutation

Incidental Mutation 'R3849:Naip2'

275833

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

040897-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R3849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100144063-100202092 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 100179433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 280 (L280V)

Ref Sequence

ENSEMBL: ENSMUSP00000125852 (fasta)

Gene Model

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

AlphaFold

Q9QUK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067975
AA Change: L280V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070827
Gene: ENSMUSG00000078945
AA Change: L280V

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

possibly damaging
Transcript: ENSMUST00000117913
AA Change: L280V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113890
Gene: ENSMUSG00000078945
AA Change: L280V

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 damaging
Transcript: ENSMUST00000167986
AA Change: L280V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125852
Gene: ENSMUSG00000078945
AA Change: L280V

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (52/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 137,376,340	N102K	possibly damaging	Het
Abca1	C	T	4: 53,061,481		probably benign	Het
Adamts17	T	A	7: 66,840,467	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,418,546	Q1564L	probably damaging	Het
Aspm	T	A	1: 139,458,286	V556E	probably benign	Het
Axin1	T	A	17: 26,187,797	Y455N	probably benign	Het
BC017158	C	T	7: 128,285,208	V201I	probably damaging	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Car8	T	A	4: 8,189,353	I154F	probably benign	Het
Ccl27a	T	A	4: 41,773,232	T76S	probably benign	Het
Cep170	G	A	1: 176,755,843	A990V	probably benign	Het
Chd1	A	T	17: 15,731,871	T291S	probably damaging	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Cpa4	T	C	6: 30,590,873	F390S	probably damaging	Het
Cul5	T	G	9: 53,617,986	M800L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Dusp8	T	C	7: 142,090,065	E37G	probably damaging	Het
Efr3b	T	C	12: 3,983,414	N131S	probably benign	Het
Fan1	T	C	7: 64,372,371	Y378C	probably damaging	Het
Fcgr2b	T	C	1: 170,968,135	N75S	possibly damaging	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Grip1	G	A	10: 119,929,958	G65D	probably damaging	Het
Hoxc10	T	C	15: 102,967,444	V196A	probably benign	Het
Hpx	A	G	7: 105,596,291	C92R	probably damaging	Het
Ighv1-22	A	G	12: 114,746,681	F9S	possibly damaging	Het
Kif24	C	T	4: 41,404,734	R422H	probably damaging	Het
Klk1b1	T	C	7: 43,969,327	Y43H	probably damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Lysmd1	G	A	3: 95,138,461	G203D	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Mrc2	T	C	11: 105,292,903		probably null	Het
Mtr	A	G	13: 12,247,365	S152P	probably benign	Het
Ndufa13	T	C	8: 69,901,610	D9G	probably damaging	Het
Nek1	T	A	8: 61,072,315	F596I	probably damaging	Het
Nsd1	A	G	13: 55,246,691	T702A	probably benign	Het
Olfr77	A	T	9: 19,920,809	Y200F	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Plxnc1	A	G	10: 94,794,432	V1535A	probably benign	Het
Prdx5	A	G	19: 6,906,850	L166P	probably damaging	Het
Prol1	A	T	5: 88,328,617	I289F	unknown	Het
Prss23	T	C	7: 89,509,751	Y370C	probably damaging	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnase2b	T	A	14: 51,162,748	H95Q	probably damaging	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Syne2	C	T	12: 76,046,065	Q5150*	probably null	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Vwa3a	A	T	7: 120,762,464	K133*	probably null	Het
Vwce	T	C	19: 10,646,905	S387P	probably damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	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
R1576:Naip2	UTSW	13	100155029	intron	probably benign
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
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
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'- AGAGGATTCGAATATGTGGTCCAC -3'
(R):5'- GATCATCAGATCTGCACCCC -3'

Sequencing Primer
(F):5'- ATGTTCAGCCTGAGAGCACTGAC -3'
(R):5'- CACAGACACACACACTCATATG -3'

Posted On

2015-04-06