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, Naip-rs3, Lgn1

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100348247-100382831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100358264 bp (GRCm39)

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
Abcg5	A	T	17: 84,972,257 (GRCm39)		silent	Het
Ackr2	T	A	9: 121,737,729 (GRCm39)	C35S	probably damaging	Het
Adcy8	T	A	15: 64,573,940 (GRCm39)	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,601,879 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,127,959 (GRCm39)	I3765K	probably benign	Het
Brwd1	A	T	16: 95,824,610 (GRCm39)	F1219I		Het
Btc	A	T	5: 91,508,603 (GRCm39)		probably null	Het
Cd163	C	T	6: 124,285,947 (GRCm39)	R166*	probably null	Het
Cfap52	G	A	11: 67,822,656 (GRCm39)	S405L	probably benign	Het
Clcn2	A	G	16: 20,531,414 (GRCm39)	L210P	possibly damaging	Het
Creb3l3	T	A	10: 80,924,452 (GRCm39)		probably null	Het
Csn1s2a	A	T	5: 87,934,458 (GRCm39)	I144F	probably benign	Het
Dedd	G	T	1: 171,167,888 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,491,124 (GRCm39)	R537C	probably damaging	Het
Epas1	A	T	17: 87,135,267 (GRCm39)	R633S	probably benign	Het
Fmn2	C	A	1: 174,436,198 (GRCm39)	T723N	unknown	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Ggcx	T	G	6: 72,402,924 (GRCm39)	F294C	probably damaging	Het
Ghr	G	A	15: 3,370,470 (GRCm39)	P132S	possibly damaging	Het
Gm15446	A	T	5: 110,091,299 (GRCm39)	H517L	probably damaging	Het
Gm5862	T	C	5: 26,226,624 (GRCm39)	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797 (GRCm39)	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795 (GRCm39)	C1817R	probably damaging	Het
Ier5	C	A	1: 154,974,275 (GRCm39)	W301L	probably damaging	Het
Irf2bp2	A	G	8: 127,318,456 (GRCm39)	L370P	probably benign	Het
Itga9	T	A	9: 118,636,344 (GRCm39)	N677K	probably damaging	Het
Itgb7	G	T	15: 102,132,797 (GRCm39)	R172S		Het
Kdm6b	A	T	11: 69,292,977 (GRCm39)	C1266*	probably null	Het
Kmt2c	A	T	5: 25,489,343 (GRCm39)	V4532E	probably damaging	Het
Kprp	A	C	3: 92,732,226 (GRCm39)	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,595 (GRCm39)	V7L	probably damaging	Het
Map3k21	G	A	8: 126,664,050 (GRCm39)	R537H	probably damaging	Het
Mchr1	T	G	15: 81,119,980 (GRCm39)	D2E	probably benign	Het
Mixl1	T	C	1: 180,522,245 (GRCm39)	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717 (GRCm39)	T24A	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ndufb11b	T	A	15: 81,865,011 (GRCm39)	M84K	probably damaging	Het
Nfe2l1	G	A	11: 96,710,573 (GRCm39)	A552V	possibly damaging	Het
Or2p2	C	T	13: 21,256,784 (GRCm39)	R229H	possibly damaging	Het
Or51r1	T	G	7: 102,228,433 (GRCm39)	S244A	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pds5a	A	G	5: 65,804,479 (GRCm39)	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,043,351 (GRCm39)	V233E	probably damaging	Het
Pias1	T	C	9: 62,888,164 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,556,246 (GRCm39)	W72R	unknown	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Proc	A	G	18: 32,268,950 (GRCm39)	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,823 (GRCm39)	Q23L	probably damaging	Het
Slc22a8	A	G	19: 8,587,025 (GRCm39)	E406G	possibly damaging	Het
Slc2a7	A	G	4: 150,242,625 (GRCm39)	T238A	probably benign	Het
Spata31h1	T	A	10: 82,123,894 (GRCm39)	S3039C	possibly damaging	Het
Spp1	A	G	5: 104,588,167 (GRCm39)	I190V	probably benign	Het
Srgap1	T	C	10: 121,628,257 (GRCm39)	D882G	probably damaging	Het
Ssrp1	T	A	2: 84,875,811 (GRCm39)	W557R	probably damaging	Het
Strn	C	G	17: 79,043,790 (GRCm39)	A43P	probably benign	Het
Taf6	A	C	5: 138,180,465 (GRCm39)	Y300D	probably damaging	Het
Tesk2	A	G	4: 116,658,933 (GRCm39)	Y270C	probably damaging	Het
Tnnt3	T	A	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Ubl7	A	G	9: 57,826,637 (GRCm39)	H117R	possibly damaging	Het
Vcan	T	A	13: 89,839,146 (GRCm39)	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,543,917 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,125,902 (GRCm39)	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,615,403 (GRCm39)	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,611,496 (GRCm39)	S283P	probably damaging	Het
Zfp956	C	T	6: 47,939,462 (GRCm39)	T170I	possibly damaging	Het

Other mutations in Naip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:Naip5	APN	13	100,382,683 (GRCm39)	nonsense	probably null
IGL00493:Naip5	APN	13	100,367,279 (GRCm39)	missense	probably damaging	0.96
IGL01294:Naip5	APN	13	100,353,588 (GRCm39)	missense	probably damaging	0.99
IGL01405:Naip5	APN	13	100,358,453 (GRCm39)	missense	probably benign	0.11
IGL01568:Naip5	APN	13	100,353,609 (GRCm39)	missense	probably benign	0.26
IGL01804:Naip5	APN	13	100,358,092 (GRCm39)	missense	probably damaging	1.00
IGL02012:Naip5	APN	13	100,359,847 (GRCm39)	missense	probably benign	0.01
IGL02183:Naip5	APN	13	100,358,150 (GRCm39)	missense	probably benign	0.41
IGL02449:Naip5	APN	13	100,358,683 (GRCm39)	missense	probably benign	0.34
IGL02815:Naip5	APN	13	100,359,239 (GRCm39)	missense	probably benign
IGL02992:Naip5	APN	13	100,359,536 (GRCm39)	missense	probably damaging	1.00
IGL03027:Naip5	APN	13	100,359,524 (GRCm39)	missense	probably benign	0.00
IGL03234:Naip5	APN	13	100,349,135 (GRCm39)	missense	probably damaging	1.00
inwood2	UTSW	13	100,359,522 (GRCm39)	nonsense	probably null
inwood3	UTSW	13	100,358,411 (GRCm39)	nonsense	probably null
Nuchal	UTSW	13	100,351,171 (GRCm39)	missense	possibly damaging	0.82
PIT4131001:Naip5	UTSW	13	100,356,268 (GRCm39)	missense	probably benign	0.00
PIT4131001:Naip5	UTSW	13	100,356,247 (GRCm39)	missense	probably benign
R0001:Naip5	UTSW	13	100,359,622 (GRCm39)	missense	probably benign
R0001:Naip5	UTSW	13	100,351,158 (GRCm39)	critical splice donor site	probably null
R0462:Naip5	UTSW	13	100,358,240 (GRCm39)	missense	probably damaging	1.00
R0636:Naip5	UTSW	13	100,356,196 (GRCm39)	missense	probably benign
R0674:Naip5	UTSW	13	100,359,707 (GRCm39)	missense	probably benign	0.04
R0764:Naip5	UTSW	13	100,353,613 (GRCm39)	missense	probably benign	0.03
R0837:Naip5	UTSW	13	100,367,251 (GRCm39)	missense	probably benign
R1179:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R1302:Naip5	UTSW	13	100,358,099 (GRCm39)	missense	possibly damaging	0.91
R1441:Naip5	UTSW	13	100,356,225 (GRCm39)	missense	possibly damaging	0.95
R1513:Naip5	UTSW	13	100,358,714 (GRCm39)	missense	probably benign
R1638:Naip5	UTSW	13	100,349,177 (GRCm39)	missense	probably damaging	1.00
R1651:Naip5	UTSW	13	100,358,419 (GRCm39)	missense	probably benign	0.41
R1707:Naip5	UTSW	13	100,379,363 (GRCm39)	missense	probably damaging	1.00
R1835:Naip5	UTSW	13	100,359,726 (GRCm39)	nonsense	probably null
R1836:Naip5	UTSW	13	100,356,195 (GRCm39)	missense	probably benign	0.18
R1972:Naip5	UTSW	13	100,349,278 (GRCm39)	missense	probably damaging	0.98
R2080:Naip5	UTSW	13	100,358,041 (GRCm39)	missense	probably damaging	1.00
R2333:Naip5	UTSW	13	100,359,679 (GRCm39)	missense	probably damaging	1.00
R2348:Naip5	UTSW	13	100,356,246 (GRCm39)	missense	probably benign	0.01
R3055:Naip5	UTSW	13	100,358,386 (GRCm39)	missense	probably benign	0.23
R3401:Naip5	UTSW	13	100,358,411 (GRCm39)	nonsense	probably null
R3723:Naip5	UTSW	13	100,359,522 (GRCm39)	nonsense	probably null
R3775:Naip5	UTSW	13	100,359,902 (GRCm39)	missense	probably benign	0.00
R3775:Naip5	UTSW	13	100,359,883 (GRCm39)	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100,359,883 (GRCm39)	missense	probably benign	0.00
R4019:Naip5	UTSW	13	100,359,902 (GRCm39)	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100,359,902 (GRCm39)	missense	probably benign	0.00
R4020:Naip5	UTSW	13	100,359,883 (GRCm39)	missense	probably benign	0.00
R4074:Naip5	UTSW	13	100,382,572 (GRCm39)	missense	probably damaging	1.00
R4082:Naip5	UTSW	13	100,382,338 (GRCm39)	missense	probably damaging	1.00
R4105:Naip5	UTSW	13	100,356,247 (GRCm39)	missense	probably benign
R4227:Naip5	UTSW	13	100,349,276 (GRCm39)	missense	probably damaging	0.99
R4639:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4640:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4641:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4644:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4645:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R4700:Naip5	UTSW	13	100,359,922 (GRCm39)	missense	possibly damaging	0.62
R4727:Naip5	UTSW	13	100,358,378 (GRCm39)	missense	possibly damaging	0.81
R4729:Naip5	UTSW	13	100,358,639 (GRCm39)	missense	possibly damaging	0.75
R4816:Naip5	UTSW	13	100,356,189 (GRCm39)	missense	probably benign	0.32
R4816:Naip5	UTSW	13	100,356,195 (GRCm39)	missense	probably benign	0.01
R4816:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R4869:Naip5	UTSW	13	100,381,639 (GRCm39)	missense	probably damaging	1.00
R5162:Naip5	UTSW	13	100,359,914 (GRCm39)	missense	possibly damaging	0.78
R5244:Naip5	UTSW	13	100,382,170 (GRCm39)	missense	probably benign	0.08
R5411:Naip5	UTSW	13	100,382,254 (GRCm39)	missense	possibly damaging	0.54
R5632:Naip5	UTSW	13	100,367,170 (GRCm39)	splice site	probably null
R5760:Naip5	UTSW	13	100,379,346 (GRCm39)	missense	probably damaging	1.00
R5916:Naip5	UTSW	13	100,359,209 (GRCm39)	missense	probably benign	0.02
R6302:Naip5	UTSW	13	100,359,674 (GRCm39)	missense	possibly damaging	0.76
R6304:Naip5	UTSW	13	100,359,674 (GRCm39)	missense	possibly damaging	0.76
R6411:Naip5	UTSW	13	100,359,913 (GRCm39)	missense	probably benign	0.01
R6474:Naip5	UTSW	13	100,351,171 (GRCm39)	missense	possibly damaging	0.82
R6499:Naip5	UTSW	13	100,358,102 (GRCm39)	missense	probably benign
R6544:Naip5	UTSW	13	100,359,652 (GRCm39)	missense	possibly damaging	0.50
R6827:Naip5	UTSW	13	100,382,437 (GRCm39)	missense	possibly damaging	0.48
R6954:Naip5	UTSW	13	100,359,922 (GRCm39)	missense	probably damaging	0.99
R7052:Naip5	UTSW	13	100,358,855 (GRCm39)	missense	probably benign	0.01
R7138:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R7141:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R7375:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7375:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7401:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7401:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7447:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7447:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7466:Naip5	UTSW	13	100,358,494 (GRCm39)	nonsense	probably null
R7491:Naip5	UTSW	13	100,353,579 (GRCm39)	missense	probably benign	0.18
R7559:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7559:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7562:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7562:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7588:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7588:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7589:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7589:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,356,204 (GRCm39)	missense	probably benign	0.00
R7590:Naip5	UTSW	13	100,356,205 (GRCm39)	missense	not run
R7742:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R7886:Naip5	UTSW	13	100,382,689 (GRCm39)	missense	probably benign	0.28
R7996:Naip5	UTSW	13	100,358,164 (GRCm39)	missense	probably damaging	1.00
R8026:Naip5	UTSW	13	100,382,406 (GRCm39)	missense	probably damaging	1.00
R8046:Naip5	UTSW	13	100,358,741 (GRCm39)	missense	probably benign
R8319:Naip5	UTSW	13	100,358,167 (GRCm39)	missense	probably benign	0.12
R8471:Naip5	UTSW	13	100,358,153 (GRCm39)	missense	probably damaging	0.99
R8480:Naip5	UTSW	13	100,358,743 (GRCm39)	missense	probably damaging	1.00
R8496:Naip5	UTSW	13	100,349,247 (GRCm39)	missense	probably benign	0.00
R8500:Naip5	UTSW	13	100,359,220 (GRCm39)	missense	probably damaging	0.98
R8712:Naip5	UTSW	13	100,359,604 (GRCm39)	missense	possibly damaging	0.61
R8780:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8781:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8788:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8817:Naip5	UTSW	13	100,349,207 (GRCm39)	missense	probably benign	0.01
R8833:Naip5	UTSW	13	100,359,442 (GRCm39)	missense	probably damaging	0.97
R8835:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R8958:Naip5	UTSW	13	100,354,117 (GRCm39)	nonsense	probably null
R9031:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9032:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9098:Naip5	UTSW	13	100,366,127 (GRCm39)	missense	possibly damaging	0.67
R9204:Naip5	UTSW	13	100,359,008 (GRCm39)	missense	probably damaging	1.00
R9223:Naip5	UTSW	13	100,364,184 (GRCm39)	missense	probably benign	0.05
R9358:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9389:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9403:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9518:Naip5	UTSW	13	100,358,367 (GRCm39)	missense	probably benign
R9568:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9568:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9569:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9569:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9570:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9572:Naip5	UTSW	13	100,359,821 (GRCm39)	missense	probably benign	0.00
R9581:Naip5	UTSW	13	100,351,194 (GRCm39)	missense	probably benign	0.11
R9627:Naip5	UTSW	13	100,356,338 (GRCm39)	missense	probably benign
R9725:Naip5	UTSW	13	100,358,784 (GRCm39)	missense	possibly damaging	0.94
R9763:Naip5	UTSW	13	100,367,269 (GRCm39)	missense	probably damaging	0.99
R9764:Naip5	UTSW	13	100,367,269 (GRCm39)	missense	probably damaging	0.99
R9765:Naip5	UTSW	13	100,367,269 (GRCm39)	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