Mutagenetix > Incidental Mutation

Incidental Mutation 'R9278:Nlrp14'

703433

Institutional Source

Beutler Lab

Gene Symbol

Nlrp14

Ensembl Gene

ENSMUSG00000016626

Gene Name

NLR family, pyrin domain containing 14

Synonyms

GC-LRR, 4921520L01Rik, Nalp14, Nalp-iota

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R9278 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106766197-106797309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106797049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 972 (N972I)

Ref Sequence

ENSEMBL: ENSMUSP00000081819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084763] [ENSMUST00000142623]

AlphaFold

Q6B966

Predicted Effect

probably damaging
Transcript: ENSMUST00000084763
AA Change: N972I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: N972I

Domain	Start	End	E-Value	Type
Pfam:NACHT	81	249	1.6e-38	PFAM
Blast:LRR	574	601	4e-6	BLAST
LRR	629	656	1.67e0	SMART
LRR	658	685	1.56e0	SMART
LRR	686	713	2.05e-2	SMART
LRR	715	742	7.9e-4	SMART
LRR	743	770	1.25e-1	SMART
LRR	772	799	4.68e-1	SMART
LRR	800	827	9.08e-4	SMART
LRR	829	856	1.59e1	SMART
LRR	857	884	7.15e-1	SMART
LRR	886	913	6.57e0	SMART
LRR	914	941	3.36e1	SMART
low complexity region	953	963	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142623
AA Change: N313I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626
AA Change: N313I

Domain	Start	End	E-Value	Type
LRR	27	54	9.1e-5	SMART
LRR	56	83	3.4e-6	SMART
LRR	84	111	5.4e-4	SMART
LRR	113	140	2e-3	SMART
LRR	141	168	4e-6	SMART
LRR	170	197	6.7e-2	SMART
LRR	198	225	3.1e-3	SMART
LRR	227	254	2.8e-2	SMART
LRR	255	282	1.4e-1	SMART
low complexity region	294	304	N/A	INTRINSIC

Coding Region Coverage

1x: 93.4%
3x: 93.4%
10x: 93.2%
20x: 92.9%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). This protein may play a regulatory role in the innate immune system as similar family members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Aicda	C	T	6: 122,538,854 (GRCm39)	A161V	possibly damaging	Het
Ankrd12	C	T	17: 66,344,599 (GRCm39)	E91K	possibly damaging	Het
Arpc2	C	A	1: 74,276,041 (GRCm39)	F19L	probably benign	Het
Aspa	T	C	11: 73,215,280 (GRCm39)	K12E	possibly damaging	Het
Chd8	G	A	14: 52,472,627 (GRCm39)	P392L	probably benign	Het
Cldn10	C	T	14: 119,111,647 (GRCm39)	R206W	probably damaging	Het
Clec4b2	T	A	6: 123,181,224 (GRCm39)	M203K	probably damaging	Het
Clec4d	G	T	6: 123,251,651 (GRCm39)	E178*	probably null	Het
Clec4d	T	C	6: 123,251,649 (GRCm39)	M177T	probably benign	Het
Cmpk2	A	T	12: 26,519,568 (GRCm39)	Y73F	probably benign	Het
Col1a1	T	A	11: 94,838,103 (GRCm39)	V845D	unknown	Het
Cyp2c67	C	T	19: 39,597,699 (GRCm39)	R433Q	probably damaging	Het
Dda1	A	T	8: 71,927,130 (GRCm39)		probably null	Het
Ddx60	A	T	8: 62,431,012 (GRCm39)	Y849F	possibly damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dtwd1	C	T	2: 126,006,728 (GRCm39)	T250I	probably damaging	Het
Efcab6	A	G	15: 83,777,094 (GRCm39)	V1114A	probably damaging	Het
Fat4	A	G	3: 38,945,171 (GRCm39)	T1355A	probably benign	Het
Fbxo40	T	G	16: 36,789,940 (GRCm39)	D390A	possibly damaging	Het
Gnaz	T	A	10: 74,827,437 (GRCm39)	L63Q	probably benign	Het
H6pd	T	A	4: 150,080,307 (GRCm39)	K179N	probably damaging	Het
Hmgb2	A	G	8: 57,965,786 (GRCm39)		probably benign	Het
Hps5	A	G	7: 46,440,397 (GRCm39)	F18L	probably benign	Het
Hyal5	A	G	6: 24,876,694 (GRCm39)	E189G	probably benign	Het
Ifnar1	T	A	16: 91,302,013 (GRCm39)	I496N	probably damaging	Het
Ift70a2	T	C	2: 75,807,375 (GRCm39)	D379G	probably damaging	Het
Igf2r	C	A	17: 12,914,240 (GRCm39)	C1743F	probably damaging	Het
Igfn1	C	A	1: 135,901,185 (GRCm39)	R431L	probably damaging	Het
Itch	A	G	2: 155,045,217 (GRCm39)	Q507R	probably benign	Het
Kbtbd2	C	A	6: 56,757,331 (GRCm39)	R135L	probably damaging	Het
Kcnn2	T	C	18: 45,725,446 (GRCm39)	I314T	probably damaging	Het
Lix1	A	G	17: 17,623,211 (GRCm39)	D2G	probably damaging	Het
Lrp1b	T	C	2: 40,487,076 (GRCm39)	Y4557C		Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mcam	G	T	9: 44,046,473 (GRCm39)		probably benign	Het
Med19	G	T	2: 84,508,975 (GRCm39)	G63C	probably damaging	Het
Mfsd4b1	C	T	10: 39,883,330 (GRCm39)	R40H	probably damaging	Het
Neb	C	T	2: 52,146,190 (GRCm39)	R2929H	probably damaging	Het
Nlrc5	A	G	8: 95,237,908 (GRCm39)	D1434G	probably benign	Het
Or13a18	T	C	7: 140,190,936 (GRCm39)	Y278H	probably damaging	Het
Or14j7	A	T	17: 38,235,275 (GRCm39)	M273L	probably benign	Het
Or2h15	A	T	17: 38,441,693 (GRCm39)	L130Q	probably damaging	Het
Or4a74	A	C	2: 89,439,948 (GRCm39)	F166C	probably damaging	Het
Or8g29-ps1	A	G	9: 39,200,781 (GRCm39)	V135A	probably benign	Het
Otop1	T	C	5: 38,460,158 (GRCm39)	V575A	probably damaging	Het
Pcdhb4	A	G	18: 37,441,925 (GRCm39)	S412G	possibly damaging	Het
Pcsk4	T	C	10: 80,161,224 (GRCm39)	D230G	probably damaging	Het
Phldb2	C	A	16: 45,646,308 (GRCm39)	S46I	probably damaging	Het
Pik3ca	A	T	3: 32,508,587 (GRCm39)	N785I	probably damaging	Het
Polr2b	A	G	5: 77,471,485 (GRCm39)	R274G	probably damaging	Het
Prkdc	G	A	16: 15,634,523 (GRCm39)		probably null	Het
Prune2	C	T	19: 17,101,144 (GRCm39)	T2216I	probably benign	Het
Psma3	A	T	12: 71,041,156 (GRCm39)	D252V	probably benign	Het
Rnf213	T	C	11: 119,326,768 (GRCm39)	V1586A		Het
Ryr2	T	C	13: 11,897,976 (GRCm39)	T140A	probably benign	Het
Slc25a48	A	G	13: 56,611,552 (GRCm39)	I220V	probably benign	Het
Slc2a1	A	T	4: 118,990,607 (GRCm39)	E246D	probably benign	Het
Slc45a4	A	G	15: 73,458,206 (GRCm39)	Y448H	probably benign	Het
Sorl1	C	T	9: 41,957,857 (GRCm39)	V596I	probably benign	Het
Spag6	A	C	2: 18,703,985 (GRCm39)	E11A	probably benign	Het
Spef2	A	G	15: 9,727,495 (GRCm39)		probably null	Het
Spon1	T	C	7: 113,628,188 (GRCm39)	S315P	probably damaging	Het
Stard3	G	A	11: 98,262,931 (GRCm39)		probably benign	Het
Sv2c	A	G	13: 96,112,589 (GRCm39)	M636T	probably damaging	Het
Syt17	T	A	7: 118,033,480 (GRCm39)	D172V	probably damaging	Het
Tcf4	A	G	18: 69,766,652 (GRCm39)	Y206C	probably damaging	Het
Tead2	G	T	7: 44,880,776 (GRCm39)	S318I	probably benign	Het
Tom1	A	T	8: 75,783,883 (GRCm39)	D289V	probably damaging	Het
Tonsl	A	G	15: 76,520,971 (GRCm39)		probably benign	Het
Tsen15	T	C	1: 152,259,098 (GRCm39)	I87V	probably damaging	Het
Usp15	A	G	10: 123,007,112 (GRCm39)	F123S	probably damaging	Het
Vmn1r220	A	T	13: 23,368,258 (GRCm39)	I146N	possibly damaging	Het
Vmn2r108	A	T	17: 20,692,561 (GRCm39)	N98K	probably benign	Het
Vmn2r71	T	A	7: 85,269,788 (GRCm39)	M433K	probably benign	Het
Vmn2r97	A	T	17: 19,134,762 (GRCm39)	H60L	probably benign	Het
Wbp4	A	G	14: 79,699,486 (GRCm39)	V336A	probably benign	Het
Zfp663	T	C	2: 165,202,010 (GRCm39)		probably null	Het
Zpld2	A	G	4: 133,922,770 (GRCm39)	L521P	probably damaging	Het

Other mutations in Nlrp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Nlrp14	APN	7	106,791,709 (GRCm39)	missense	possibly damaging	0.91
IGL00337:Nlrp14	APN	7	106,781,308 (GRCm39)	missense	possibly damaging	0.95
IGL00587:Nlrp14	APN	7	106,780,974 (GRCm39)	missense	probably benign	0.10
IGL00654:Nlrp14	APN	7	106,795,351 (GRCm39)	missense	probably damaging	1.00
IGL00712:Nlrp14	APN	7	106,796,448 (GRCm39)	missense	probably damaging	1.00
IGL00765:Nlrp14	APN	7	106,789,346 (GRCm39)	missense	possibly damaging	0.85
IGL01392:Nlrp14	APN	7	106,797,120 (GRCm39)	utr 3 prime	probably benign
IGL02325:Nlrp14	APN	7	106,781,523 (GRCm39)	missense	possibly damaging	0.95
IGL02572:Nlrp14	APN	7	106,781,929 (GRCm39)	nonsense	probably null
IGL03180:Nlrp14	APN	7	106,781,833 (GRCm39)	missense	probably benign	0.01
IGL03186:Nlrp14	APN	7	106,785,877 (GRCm39)	missense	probably damaging	0.98
PIT4403001:Nlrp14	UTSW	7	106,784,099 (GRCm39)	missense	possibly damaging	0.65
R0025:Nlrp14	UTSW	7	106,780,465 (GRCm39)	splice site	probably benign
R0025:Nlrp14	UTSW	7	106,780,465 (GRCm39)	splice site	probably benign
R0148:Nlrp14	UTSW	7	106,781,928 (GRCm39)	missense	probably benign
R0720:Nlrp14	UTSW	7	106,781,220 (GRCm39)	missense	probably benign	0.19
R0842:Nlrp14	UTSW	7	106,782,342 (GRCm39)	missense	probably benign	0.08
R1367:Nlrp14	UTSW	7	106,782,018 (GRCm39)	missense	probably benign	0.01
R1472:Nlrp14	UTSW	7	106,781,910 (GRCm39)	missense	probably benign	0.33
R1483:Nlrp14	UTSW	7	106,789,329 (GRCm39)	missense	possibly damaging	0.84
R1615:Nlrp14	UTSW	7	106,795,370 (GRCm39)	missense	probably benign	0.37
R1991:Nlrp14	UTSW	7	106,795,407 (GRCm39)	missense	probably benign	0.21
R2171:Nlrp14	UTSW	7	106,781,709 (GRCm39)	missense	probably damaging	0.99
R2287:Nlrp14	UTSW	7	106,781,869 (GRCm39)	missense	probably damaging	1.00
R2394:Nlrp14	UTSW	7	106,797,031 (GRCm39)	missense	probably benign	0.13
R3151:Nlrp14	UTSW	7	106,781,759 (GRCm39)	missense	probably benign	0.32
R3732:Nlrp14	UTSW	7	106,781,574 (GRCm39)	missense	probably benign	0.00
R3793:Nlrp14	UTSW	7	106,781,481 (GRCm39)	missense	probably benign	0.00
R4368:Nlrp14	UTSW	7	106,797,012 (GRCm39)	missense	probably benign	0.01
R4652:Nlrp14	UTSW	7	106,781,024 (GRCm39)	missense	probably benign	0.05
R4772:Nlrp14	UTSW	7	106,780,393 (GRCm39)	missense	probably benign	0.07
R4886:Nlrp14	UTSW	7	106,781,862 (GRCm39)	missense	probably benign	0.02
R4896:Nlrp14	UTSW	7	106,796,386 (GRCm39)	frame shift	probably null
R4910:Nlrp14	UTSW	7	106,785,790 (GRCm39)	missense	possibly damaging	0.93
R5925:Nlrp14	UTSW	7	106,785,860 (GRCm39)	missense	probably benign	0.35
R5997:Nlrp14	UTSW	7	106,781,703 (GRCm39)	missense	probably benign	0.11
R6192:Nlrp14	UTSW	7	106,781,646 (GRCm39)	missense	probably benign	0.00
R6230:Nlrp14	UTSW	7	106,781,024 (GRCm39)	missense	probably benign	0.05
R6799:Nlrp14	UTSW	7	106,795,346 (GRCm39)	missense	probably benign	0.37
R7116:Nlrp14	UTSW	7	106,782,255 (GRCm39)	missense	possibly damaging	0.86
R7131:Nlrp14	UTSW	7	106,784,021 (GRCm39)	missense	possibly damaging	0.47
R7387:Nlrp14	UTSW	7	106,782,314 (GRCm39)	missense	probably damaging	0.98
R7472:Nlrp14	UTSW	7	106,789,251 (GRCm39)	missense	probably benign	0.09
R7565:Nlrp14	UTSW	7	106,781,094 (GRCm39)	nonsense	probably null
R7810:Nlrp14	UTSW	7	106,791,782 (GRCm39)	nonsense	probably null
R8113:Nlrp14	UTSW	7	106,791,715 (GRCm39)	missense	possibly damaging	0.95
R8551:Nlrp14	UTSW	7	106,782,359 (GRCm39)	missense	possibly damaging	0.58
R8985:Nlrp14	UTSW	7	106,796,436 (GRCm39)	missense	probably benign	0.03
R9436:Nlrp14	UTSW	7	106,781,106 (GRCm39)	missense	probably benign	0.07
R9625:Nlrp14	UTSW	7	106,782,169 (GRCm39)	missense	probably benign	0.20
R9715:Nlrp14	UTSW	7	106,781,626 (GRCm39)	missense	probably benign
R9744:Nlrp14	UTSW	7	106,796,987 (GRCm39)	missense	probably damaging	0.99
X0019:Nlrp14	UTSW	7	106,782,134 (GRCm39)	missense	probably benign	0.11
X0050:Nlrp14	UTSW	7	106,795,370 (GRCm39)	missense	probably benign	0.37
Z1088:Nlrp14	UTSW	7	106,785,829 (GRCm39)	missense	probably damaging	1.00
Z1176:Nlrp14	UTSW	7	106,781,921 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTCCCAGAGGCCCTTGTTAATATG -3'
(R):5'- CTGAGTGCAGTTCAGTGCTTC -3'

Sequencing Primer
(F):5'- GAGGCCCTTGTTAATATGCCACTTC -3'
(R):5'- CAGTGCTTCTGGACATAAACAG -3'

Posted On

2022-03-25