Mutagenetix > Incidental Mutation

Incidental Mutation 'R9074:Naip5'

689691

Institutional Source

Beutler Lab

Gene Symbol

Naip5

Ensembl Gene

ENSMUSG00000071203

Gene Name

NLR family, apoptosis inhibitory protein 5

Synonyms

Birc1e, Lgn1, Naip-rs3

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R9074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100221756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 991 (K991E)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049789]

AlphaFold

Q9R016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049789
AA Change: K991E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: K991E

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
BIR	58	129	1.08e-19	SMART
BIR	157	229	1.06e-36	SMART
BIR	276	347	2.14e-32	SMART
Pfam:NACHT	464	618	1.7e-36	PFAM
low complexity region	851	862	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

MGI Phenotype

PHENOTYPE: This locus controls resistance to Legionella pneumophila, the organism responsible for Legionnaire's disease. Cultured peritoneal macrophages from A/J mice are susceptible, supporting bacterial proliferation; other strains, e.g., C57BL/6 are resistant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	A	15: 81,980,810	M84K	probably damaging	Het
4932415D10Rik	T	A	10: 82,288,060	S3039C	possibly damaging	Het
Abcg5	A	T	17: 84,664,829		silent	Het
Ackr2	T	A	9: 121,908,663	C35S	probably damaging	Het
Adcy8	T	A	15: 64,702,091	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,290,988		probably benign	Het
Akap9	T	A	5: 4,077,959	I3765K	probably benign	Het
Brwd1	A	T	16: 96,023,410	F1219I		Het
Btc	A	T	5: 91,360,744		probably null	Het
Cd163	C	T	6: 124,308,988	R166*	probably null	Het
Cfap52	G	A	11: 67,931,830	S405L	probably benign	Het
Clcn2	A	G	16: 20,712,664	L210P	possibly damaging	Het
Creb3l3	T	A	10: 81,088,618		probably null	Het
Csn1s2a	A	T	5: 87,786,599	I144F	probably benign	Het
Dedd	G	T	1: 171,340,320		probably benign	Het
Eef2k	C	T	7: 120,891,901	R537C	probably damaging	Het
Epas1	A	T	17: 86,827,839	R633S	probably benign	Het
Fmn2	C	A	1: 174,608,632	T723N	unknown	Het
Frmd4a	G	T	2: 4,603,954	G878W	probably damaging	Het
Ggcx	T	G	6: 72,425,941	F294C	probably damaging	Het
Ghr	G	A	15: 3,340,988	P132S	possibly damaging	Het
Gm15446	A	T	5: 109,943,433	H517L	probably damaging	Het
Gm5862	T	C	5: 26,021,626	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,540,995	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795	C1817R	probably damaging	Het
Ier5	C	A	1: 155,098,529	W301L	probably damaging	Het
Irf2bp2	A	G	8: 126,591,717	L370P	probably benign	Het
Itga9	T	A	9: 118,807,276	N677K	probably damaging	Het
Itgb7	G	T	15: 102,224,362	R172S		Het
Kdm6b	A	T	11: 69,402,151	C1266*	probably null	Het
Kmt2c	A	T	5: 25,284,345	V4532E	probably damaging	Het
Kprp	A	C	3: 92,824,919	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,596	V7L	probably damaging	Het
Map3k21	G	A	8: 125,937,311	R537H	probably damaging	Het
Mchr1	T	G	15: 81,235,779	D2E	probably benign	Het
Mixl1	T	C	1: 180,694,680	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717	T24A	probably benign	Het
Naip2	C	T	13: 100,154,951	D1160N	probably benign	Het
Naip2	T	C	13: 100,154,960	S1157G	probably benign	Het
Nfe2l1	G	A	11: 96,819,747	A552V	possibly damaging	Het
Olfr1370	C	T	13: 21,072,614	R229H	possibly damaging	Het
Olfr550	T	G	7: 102,579,226	S244A	probably damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Pds5a	A	G	5: 65,647,136	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451		probably benign	Het
Pgc	T	A	17: 47,732,426	V233E	probably damaging	Het
Pias1	T	C	9: 62,980,882		probably benign	Het
Pign	A	T	1: 105,628,521	W72R	unknown	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Proc	A	G	18: 32,135,897	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,677	Q23L	probably damaging	Het
Slc22a8	A	G	19: 8,609,661	E406G	possibly damaging	Het
Slc2a7	A	G	4: 150,158,168	T238A	probably benign	Het
Spp1	A	G	5: 104,440,301	I190V	probably benign	Het
Srgap1	T	C	10: 121,792,352	D882G	probably damaging	Het
Ssrp1	T	A	2: 85,045,467	W557R	probably damaging	Het
Strn	C	G	17: 78,736,361	A43P	probably benign	Het
Taf6	A	C	5: 138,182,203	Y300D	probably damaging	Het
Tesk2	A	G	4: 116,801,736	Y270C	probably damaging	Het
Tnnt3	T	A	7: 142,512,086	D153E	probably benign	Het
Ubl7	A	G	9: 57,919,354	H117R	possibly damaging	Het
Vcan	T	A	13: 89,691,027	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,593,917		probably benign	Het
Wdr72	A	C	9: 74,218,620	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,909,766	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,791,133	S283P	probably damaging	Het
Zfp956	C	T	6: 47,962,528	T170I	possibly damaging	Het

Other mutations in Naip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Naip5	APN	13	100246175	nonsense	probably null
IGL00493:Naip5	APN	13	100230771	missense	probably damaging	0.96
IGL01294:Naip5	APN	13	100217080	missense	probably damaging	0.99
IGL01405:Naip5	APN	13	100221945	missense	probably benign	0.11
IGL01568:Naip5	APN	13	100217101	missense	probably benign	0.26
IGL01804:Naip5	APN	13	100221584	missense	probably damaging	1.00
IGL02012:Naip5	APN	13	100223339	missense	probably benign	0.01
IGL02183:Naip5	APN	13	100221642	missense	probably benign	0.41
IGL02449:Naip5	APN	13	100222175	missense	probably benign	0.34
IGL02815:Naip5	APN	13	100222731	missense	probably benign
IGL02992:Naip5	APN	13	100223028	missense	probably damaging	1.00
IGL03027:Naip5	APN	13	100223016	missense	probably benign	0.00
IGL03234:Naip5	APN	13	100212627	missense	probably damaging	1.00
inwood2	UTSW	13	100223014	nonsense	probably null
inwood3	UTSW	13	100221903	nonsense	probably null
Nuchal	UTSW	13	100214663	missense	possibly damaging	0.82
PIT4131001:Naip5	UTSW	13	100219739	missense	probably benign
PIT4131001:Naip5	UTSW	13	100219760	missense	probably benign	0.00
R0001:Naip5	UTSW	13	100214650	critical splice donor site	probably null
R0001:Naip5	UTSW	13	100223114	missense	probably benign
R0462:Naip5	UTSW	13	100221732	missense	probably damaging	1.00
R0636:Naip5	UTSW	13	100219688	missense	probably benign
R0674:Naip5	UTSW	13	100223199	missense	probably benign	0.04
R0764:Naip5	UTSW	13	100217105	missense	probably benign	0.03
R0837:Naip5	UTSW	13	100230743	missense	probably benign
R1179:Naip5	UTSW	13	100219830	missense	probably benign
R1302:Naip5	UTSW	13	100221591	missense	possibly damaging	0.91
R1441:Naip5	UTSW	13	100219717	missense	possibly damaging	0.95
R1513:Naip5	UTSW	13	100222206	missense	probably benign
R1638:Naip5	UTSW	13	100212669	missense	probably damaging	1.00
R1651:Naip5	UTSW	13	100221911	missense	probably benign	0.41
R1707:Naip5	UTSW	13	100242855	missense	probably damaging	1.00
R1835:Naip5	UTSW	13	100223218	nonsense	probably null
R1836:Naip5	UTSW	13	100219687	missense	probably benign	0.18
R1972:Naip5	UTSW	13	100212770	missense	probably damaging	0.98
R2080:Naip5	UTSW	13	100221533	missense	probably damaging	1.00
R2333:Naip5	UTSW	13	100223171	missense	probably damaging	1.00
R2348:Naip5	UTSW	13	100219738	missense	probably benign	0.01
R3055:Naip5	UTSW	13	100221878	missense	probably benign	0.23
R3401:Naip5	UTSW	13	100221903	nonsense	probably null
R3723:Naip5	UTSW	13	100223014	nonsense	probably null
R3775:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100223375	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100223394	missense	probably benign	0.00
R4074:Naip5	UTSW	13	100246064	missense	probably damaging	1.00
R4082:Naip5	UTSW	13	100245830	missense	probably damaging	1.00
R4105:Naip5	UTSW	13	100219739	missense	probably benign
R4227:Naip5	UTSW	13	100212768	missense	probably damaging	0.99
R4639:Naip5	UTSW	13	100219830	missense	probably benign
R4640:Naip5	UTSW	13	100219830	missense	probably benign
R4641:Naip5	UTSW	13	100219830	missense	probably benign
R4644:Naip5	UTSW	13	100219830	missense	probably benign
R4645:Naip5	UTSW	13	100219830	missense	probably benign
R4700:Naip5	UTSW	13	100223414	missense	possibly damaging	0.62
R4727:Naip5	UTSW	13	100221870	missense	possibly damaging	0.81
R4729:Naip5	UTSW	13	100222131	missense	possibly damaging	0.75
R4816:Naip5	UTSW	13	100219681	missense	probably benign	0.32
R4816:Naip5	UTSW	13	100219687	missense	probably benign	0.01
R4816:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R4869:Naip5	UTSW	13	100245131	missense	probably damaging	1.00
R5162:Naip5	UTSW	13	100223406	missense	possibly damaging	0.78
R5244:Naip5	UTSW	13	100245662	missense	probably benign	0.08
R5411:Naip5	UTSW	13	100245746	missense	possibly damaging	0.54
R5632:Naip5	UTSW	13	100230662	splice site	probably null
R5760:Naip5	UTSW	13	100242838	missense	probably damaging	1.00
R5916:Naip5	UTSW	13	100222701	missense	probably benign	0.02
R6302:Naip5	UTSW	13	100223166	missense	possibly damaging	0.76
R6304:Naip5	UTSW	13	100223166	missense	possibly damaging	0.76
R6411:Naip5	UTSW	13	100223405	missense	probably benign	0.01
R6474:Naip5	UTSW	13	100214663	missense	possibly damaging	0.82
R6499:Naip5	UTSW	13	100221594	missense	probably benign
R6544:Naip5	UTSW	13	100223144	missense	possibly damaging	0.50
R6827:Naip5	UTSW	13	100245929	missense	possibly damaging	0.48
R6954:Naip5	UTSW	13	100223414	missense	probably damaging	0.99
R7052:Naip5	UTSW	13	100222347	missense	probably benign	0.01
R7138:Naip5	UTSW	13	100219830	missense	probably benign
R7141:Naip5	UTSW	13	100219830	missense	probably benign
R7375:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7375:Naip5	UTSW	13	100219697	missense	not run
R7401:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7401:Naip5	UTSW	13	100219697	missense	not run
R7447:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7447:Naip5	UTSW	13	100219697	missense	not run
R7466:Naip5	UTSW	13	100221986	nonsense	probably null
R7491:Naip5	UTSW	13	100217071	missense	probably benign	0.18
R7559:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7559:Naip5	UTSW	13	100219697	missense	not run
R7562:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7562:Naip5	UTSW	13	100219697	missense	not run
R7588:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7588:Naip5	UTSW	13	100219697	missense	not run
R7589:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7589:Naip5	UTSW	13	100219697	missense	not run
R7590:Naip5	UTSW	13	100219696	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100219697	missense	not run
R7742:Naip5	UTSW	13	100219830	missense	probably benign
R7886:Naip5	UTSW	13	100246181	missense	probably benign	0.28
R7996:Naip5	UTSW	13	100221656	missense	probably damaging	1.00
R8026:Naip5	UTSW	13	100245898	missense	probably damaging	1.00
R8046:Naip5	UTSW	13	100222233	missense	probably benign
R8319:Naip5	UTSW	13	100221659	missense	probably benign	0.12
R8471:Naip5	UTSW	13	100221645	missense	probably damaging	0.99
R8480:Naip5	UTSW	13	100222235	missense	probably damaging	1.00
R8496:Naip5	UTSW	13	100212739	missense	probably benign	0.00
R8500:Naip5	UTSW	13	100222712	missense	probably damaging	0.98
R8712:Naip5	UTSW	13	100223096	missense	possibly damaging	0.61
R8780:Naip5	UTSW	13	100219830	missense	probably benign
R8781:Naip5	UTSW	13	100219830	missense	probably benign
R8788:Naip5	UTSW	13	100219830	missense	probably benign
R8817:Naip5	UTSW	13	100212699	missense	probably benign	0.01
R8833:Naip5	UTSW	13	100222934	missense	probably damaging	0.97
R8835:Naip5	UTSW	13	100219830	missense	probably benign
R8958:Naip5	UTSW	13	100217609	nonsense	probably null
R9031:Naip5	UTSW	13	100219830	missense	probably benign
R9032:Naip5	UTSW	13	100219830	missense	probably benign
R9098:Naip5	UTSW	13	100229619	missense	possibly damaging	0.67
R9204:Naip5	UTSW	13	100222500	missense	probably damaging	1.00
R9223:Naip5	UTSW	13	100227676	missense	probably benign	0.05
R9358:Naip5	UTSW	13	100219830	missense	probably benign
R9389:Naip5	UTSW	13	100219830	missense	probably benign
R9403:Naip5	UTSW	13	100219830	missense	probably benign
R9518:Naip5	UTSW	13	100221859	missense	probably benign
R9568:Naip5	UTSW	13	100219830	missense	probably benign
R9568:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9569:Naip5	UTSW	13	100219830	missense	probably benign
R9569:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9570:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9572:Naip5	UTSW	13	100223313	missense	probably benign	0.00
R9581:Naip5	UTSW	13	100214686	missense	probably benign	0.11
R9627:Naip5	UTSW	13	100219830	missense	probably benign
R9725:Naip5	UTSW	13	100222276	missense	possibly damaging	0.94
R9763:Naip5	UTSW	13	100230761	missense	probably damaging	0.99
R9764:Naip5	UTSW	13	100230761	missense	probably damaging	0.99
R9765:Naip5	UTSW	13	100230761	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGGGCAGATGCTTTCAAGG -3'
(R):5'- GTTGAGGAGCTTAAAGGTTTCC -3'

Sequencing Primer
(F):5'- TGCTTTCAAGGAAGCCACTG -3'
(R):5'- GAGGAGCTTAAAGGTTTCCATAAATG -3'

Posted On

2021-11-19