Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Nlrp14'

551774

Institutional Source

Beutler Lab

Gene Symbol

Nlrp14

Ensembl Gene

ENSMUSG00000016626

Gene Name

NLR family, pyrin domain containing 14

Synonyms

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

MMRRC Submission

045207-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107166990-107198102 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107183048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 484 (D484G)

Ref Sequence

ENSEMBL: ENSMUSP00000081819 (fasta)

Gene Model

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

AlphaFold

Q6B966

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084763
AA Change: D484G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: D484G

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 benign
Transcript: ENSMUST00000142623

SMART Domains

Protein: ENSMUSP00000145427
Gene: ENSMUSG00000016626

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	Het

Other mutations in Nlrp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Nlrp14	APN	7	107192502	missense	possibly damaging	0.91
IGL00337:Nlrp14	APN	7	107182101	missense	possibly damaging	0.95
IGL00587:Nlrp14	APN	7	107181767	missense	probably benign	0.10
IGL00654:Nlrp14	APN	7	107196144	missense	probably damaging	1.00
IGL00712:Nlrp14	APN	7	107197241	missense	probably damaging	1.00
IGL00765:Nlrp14	APN	7	107190139	missense	possibly damaging	0.85
IGL01392:Nlrp14	APN	7	107197913	utr 3 prime	probably benign
IGL02325:Nlrp14	APN	7	107182316	missense	possibly damaging	0.95
IGL02572:Nlrp14	APN	7	107182722	nonsense	probably null
IGL03180:Nlrp14	APN	7	107182626	missense	probably benign	0.01
IGL03186:Nlrp14	APN	7	107186670	missense	probably damaging	0.98
PIT4403001:Nlrp14	UTSW	7	107184892	missense	possibly damaging	0.65
R0025:Nlrp14	UTSW	7	107181258	splice site	probably benign
R0025:Nlrp14	UTSW	7	107181258	splice site	probably benign
R0148:Nlrp14	UTSW	7	107182721	missense	probably benign
R0720:Nlrp14	UTSW	7	107182013	missense	probably benign	0.19
R0842:Nlrp14	UTSW	7	107183135	missense	probably benign	0.08
R1367:Nlrp14	UTSW	7	107182811	missense	probably benign	0.01
R1472:Nlrp14	UTSW	7	107182703	missense	probably benign	0.33
R1483:Nlrp14	UTSW	7	107190122	missense	possibly damaging	0.84
R1615:Nlrp14	UTSW	7	107196163	missense	probably benign	0.37
R1991:Nlrp14	UTSW	7	107196200	missense	probably benign	0.21
R2171:Nlrp14	UTSW	7	107182502	missense	probably damaging	0.99
R2287:Nlrp14	UTSW	7	107182662	missense	probably damaging	1.00
R2394:Nlrp14	UTSW	7	107197824	missense	probably benign	0.13
R3151:Nlrp14	UTSW	7	107182552	missense	probably benign	0.32
R3732:Nlrp14	UTSW	7	107182367	missense	probably benign	0.00
R3793:Nlrp14	UTSW	7	107182274	missense	probably benign	0.00
R4368:Nlrp14	UTSW	7	107197805	missense	probably benign	0.01
R4652:Nlrp14	UTSW	7	107181817	missense	probably benign	0.05
R4772:Nlrp14	UTSW	7	107181186	missense	probably benign	0.07
R4886:Nlrp14	UTSW	7	107182655	missense	probably benign	0.02
R4896:Nlrp14	UTSW	7	107197179	frame shift	probably null
R4910:Nlrp14	UTSW	7	107186583	missense	possibly damaging	0.93
R5925:Nlrp14	UTSW	7	107186653	missense	probably benign	0.35
R5997:Nlrp14	UTSW	7	107182496	missense	probably benign	0.11
R6192:Nlrp14	UTSW	7	107182439	missense	probably benign	0.00
R6230:Nlrp14	UTSW	7	107181817	missense	probably benign	0.05
R6799:Nlrp14	UTSW	7	107196139	missense	probably benign	0.37
R7131:Nlrp14	UTSW	7	107184814	missense	possibly damaging	0.47
R7387:Nlrp14	UTSW	7	107183107	missense	probably damaging	0.98
R7472:Nlrp14	UTSW	7	107190044	missense	probably benign	0.09
R7565:Nlrp14	UTSW	7	107181887	nonsense	probably null
R7810:Nlrp14	UTSW	7	107192575	nonsense	probably null
R8113:Nlrp14	UTSW	7	107192508	missense	possibly damaging	0.95
R8551:Nlrp14	UTSW	7	107183152	missense	possibly damaging	0.58
R8985:Nlrp14	UTSW	7	107197229	missense	probably benign	0.03
R9278:Nlrp14	UTSW	7	107197842	missense	probably damaging	0.99
R9436:Nlrp14	UTSW	7	107181899	missense	probably benign	0.07
R9625:Nlrp14	UTSW	7	107182962	missense	probably benign	0.20
R9715:Nlrp14	UTSW	7	107182419	missense	probably benign
R9744:Nlrp14	UTSW	7	107197780	missense	probably damaging	0.99
X0019:Nlrp14	UTSW	7	107182927	missense	probably benign	0.11
X0050:Nlrp14	UTSW	7	107196163	missense	probably benign	0.37
Z1088:Nlrp14	UTSW	7	107186622	missense	probably damaging	1.00
Z1176:Nlrp14	UTSW	7	107182714	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CACATTCATGACCCTCATTTGG -3'
(R):5'- AACACTTACCACATTTCAGCTGTG -3'

Sequencing Primer
(F):5'- TCATGACCCTCATTTGGAACAG -3'
(R):5'- ACCACATTTCAGCTGTGTCCAAC -3'

Posted On

2019-05-15