Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00587:Nlrp14'

12370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nlrp14

Ensembl Gene

ENSMUSG00000016626

Gene Name

NLR family, pyrin domain containing 14

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL00587

Quality Score

Status

Chromosome

Chromosomal Location

106766197-106797309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106780974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 57 (V57E)

Ref Sequence

ENSEMBL: ENSMUSP00000081819 (fasta)

Gene Model

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

AlphaFold

Q6B966

Predicted Effect

probably benign
Transcript: ENSMUST00000084763
AA Change: V57E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: V57E

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

Coding Region Coverage

Validation Efficiency

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo2	A	C	15: 97,143,327 (GRCm39)	M365R	possibly damaging	Het
Atat1	T	C	17: 36,208,775 (GRCm39)	D352G	probably benign	Het
Bbs12	A	G	3: 37,374,346 (GRCm39)	T265A	probably damaging	Het
Cd300c	A	T	11: 114,850,616 (GRCm39)	N62K	probably benign	Het
Cdk5rap3	A	G	11: 96,804,225 (GRCm39)	S43P	probably damaging	Het
Chchd6	A	T	6: 89,546,399 (GRCm39)		probably null	Het
Cr2	C	T	1: 194,836,559 (GRCm39)	R868Q	possibly damaging	Het
Cyp2d9	T	C	15: 82,339,344 (GRCm39)	S126P	possibly damaging	Het
Dsg3	T	A	18: 20,672,711 (GRCm39)	I794N	probably damaging	Het
Fga	A	T	3: 82,937,596 (GRCm39)	S158C	possibly damaging	Het
Gm14240	T	C	2: 155,894,870 (GRCm39)		probably null	Het
Itga1	C	A	13: 115,148,785 (GRCm39)	V279L	probably damaging	Het
Kdm1b	T	C	13: 47,222,016 (GRCm39)	V485A	probably benign	Het
Mfap3l	T	C	8: 61,124,943 (GRCm39)	V395A	probably benign	Het
P2ry12	A	T	3: 59,125,303 (GRCm39)	I124K	probably damaging	Het
Paxip1	A	G	5: 27,977,550 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,470,222 (GRCm39)		probably benign	Het
Rab28	T	C	5: 41,860,799 (GRCm39)	R52G	probably benign	Het
Rrp15	T	C	1: 186,453,745 (GRCm39)		probably null	Het
Sel1l2	G	A	2: 140,085,864 (GRCm39)	L539F	possibly damaging	Het
Ticam2	T	C	18: 46,693,880 (GRCm39)	E69G	probably benign	Het
Zcchc2	T	A	1: 105,957,993 (GRCm39)	S821R	probably benign	Het
Zcchc4	T	A	5: 52,973,511 (GRCm39)	S379T	probably benign	Het
Zfp53	T	C	17: 21,728,600 (GRCm39)	V211A	probably benign	Het
Zmym2	T	G	14: 57,140,817 (GRCm39)	S219A	possibly 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
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
R9278:Nlrp14	UTSW	7	106,797,049 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2012-12-06