Mutagenetix > Incidental Mutation

Incidental Mutation 'R5760:Naip5'

445260

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

043362-MU

Accession Numbers

Essential gene?

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

Stock #

R5760 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100211739-100246323 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100242838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 231 (K231N)

Ref Sequence

ENSEMBL: ENSMUSP00000058611 (fasta)

Gene Model

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

AlphaFold

Q9R016

Predicted Effect

probably damaging
Transcript: ENSMUST00000049789
AA Change: K231N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058611
Gene: ENSMUSG00000071203
AA Change: K231N

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: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,591		probably benign	Het
Abl2	C	T	1: 156,641,857	T793M	probably benign	Het
Accs	A	C	2: 93,845,760	L90R	probably damaging	Het
Ahnak	A	T	19: 9,013,562	D4070V	probably damaging	Het
Apbb2	A	G	5: 66,362,757	V475A	probably benign	Het
Atp10d	T	A	5: 72,260,937	V602E	probably benign	Het
Cdh23	C	T	10: 60,406,392	V1088M	probably damaging	Het
Dennd6a	A	T	14: 26,612,040	I144L	probably damaging	Het
Dnajc6	G	A	4: 101,618,642	A571T	probably benign	Het
Drap1	A	G	19: 5,424,363	I18T	probably damaging	Het
En2	C	A	5: 28,166,999	A158D	probably benign	Het
Fbn1	C	T	2: 125,361,247	G1219R	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gm7535	C	T	17: 17,911,818		probably benign	Het
Hao2	A	T	3: 98,880,432	L227*	probably null	Het
Hdlbp	C	T	1: 93,440,777		probably benign	Het
Hivep3	A	G	4: 120,095,011	K175E	possibly damaging	Het
Hmcn2	G	A	2: 31,414,568	A3075T	possibly damaging	Het
Igkv6-15	A	T	6: 70,406,532	I95N	probably damaging	Het
Itgad	A	T	7: 128,203,365	Q1001L	probably benign	Het
Jaml	T	A	9: 45,097,754	M151K	probably benign	Het
Lix1	T	A	17: 17,427,237	V55D	possibly damaging	Het
Macf1	A	G	4: 123,513,884	S179P	probably damaging	Het
Matn2	T	A	15: 34,355,607	Q33L	possibly damaging	Het
Mcm3	CT	CTT	1: 20,808,748		probably null	Het
Mroh5	A	C	15: 73,821,507	I28S	probably damaging	Het
Neb	A	C	2: 52,183,818	Y5683D	probably damaging	Het
Npc1l1	A	T	11: 6,229,031	H126Q	probably benign	Het
Npm2	A	G	14: 70,649,495	F110L	probably damaging	Het
Nsd3	A	T	8: 25,659,756	H319L	probably damaging	Het
Nup205	G	A	6: 35,247,343	R2039Q	probably damaging	Het
Olfr1406	C	A	1: 173,183,751	A228S	probably benign	Het
Olfr1415	A	G	1: 92,491,200	L185P	possibly damaging	Het
Olfr77	A	C	9: 19,920,754	T182P	probably benign	Het
Pcdhac2	G	A	18: 37,146,400	G811E	probably damaging	Het
Pkhd1	T	A	1: 20,073,554	R3849S	probably benign	Het
Pmfbp1	A	T	8: 109,521,023	D317V	probably damaging	Het
Sall1	T	C	8: 89,028,650	N1234D	possibly damaging	Het
Slc12a7	T	A	13: 73,813,622	V1037D	probably damaging	Het
Slc12a8	G	T	16: 33,624,785	E404*	probably null	Het
Tchhl1	C	G	3: 93,471,556	S522R	probably damaging	Het
Tgif1	A	G	17: 70,845,001	V152A	probably damaging	Het
Tshz3	C	A	7: 36,771,569	H994Q	probably damaging	Het
Ubash3b	T	G	9: 41,077,423	K62T	probably benign	Het
Ushbp1	G	T	8: 71,387,368	D546E	probably damaging	Het
Zfp458	A	C	13: 67,257,789	C192W	probably damaging	Het
Zfp808	A	T	13: 62,171,926	H323L	probably 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
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
R9074:Naip5	UTSW	13	100221756	missense	possibly damaging	0.92
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'- CACTCTGTGGGTAAGAGGCA -3'
(R):5'- ATAGGGACATATGTGGGATTGGG -3'

Sequencing Primer
(F):5'- TTGTGCCTGAAGACAGCTAC -3'
(R):5'- ACATATGTGGGATTGGGGTATATG -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R57600044_PCR_F: 5’- CACTCTGTGGGTAAGAGGCA-3’

R57600044_PCR_R: 5’- ATAGGGACATATGTGGGATTGGG-3’

Sequencing Primers

R57600044_SEQ_F: 5’- TTGTGCCTGAAGACAGCTAC-3’ 

R57600044_SEQ_R: 5’- ACATATGTGGGATTGGGGTATATG-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 617 nucleotides is amplified:

cactctgtgg gtaagaggca gaaggatgaa ggagaaagga agaaagtcac agaaaccata

aaaacaaaaa caaaaacatt tgggggttgg agacatggct cagaagctaa gagcactgac

tgctctccca gaggttctga gttcaattcc cagcaaccac aaggtggctc acaaccatct
gcaatgggat ctgatgccct cttctgttgt gcctgaagac agctactata tacttatata

cataaaataa atcttaaaaa taaacaaaca aaatacctca cctcagacat taggcagtaa

gaagattttg gaaaaagttg gctgttgtaa attaccgtta catgaacaaa tccctcgtag

ctttgaatat actgggcaat ttcctctgag gatttcttac tttgaagaaa ttcacatctg

taacaaaaag cacaattgac cattttccca atagtgtaat agacatgtcc tctatcacaa

tgtatatttt tttaatgtgt taatcatttt tggacatttt tacttttaaa actttttatt

tgatgtactt ttgttaactt tttatggatt ctttgtgaat attaaatcat ataccccaat

cccacatatg tccctatccctat

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>G).

Posted On

2016-11-21