Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Nlrp14'

356384

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

040720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107166990-107198102 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107182367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 257 (Y257F)

Ref Sequence

ENSEMBL: ENSMUSP00000081819 (fasta)

Gene Model

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

AlphaFold

Q6B966

Predicted Effect

probably benign
Transcript: ENSMUST00000084763
AA Change: Y257F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: Y257F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Ddx4	T	A	13: 112,611,982	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	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
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
R7116:Nlrp14	UTSW	7	107183048	missense	possibly damaging	0.86
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'- GCTGAGGAAAGTGATGCTTCC -3'
(R):5'- CCTCAACAGGGTTTCATTGGG -3'

Sequencing Primer
(F):5'- GAAAGTGATGCTTCCTGAGTCCTAC -3'
(R):5'- TTTCATTGGGCAGAGTAACACAGC -3'

Posted On

2015-11-11