Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Nlrp14'

552654

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

045216-MU

Accession Numbers

Essential gene?

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

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106766197-106797309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106784021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 581 (D581G)

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: D581G

PolyPhen 2 Score 0.467 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081819
Gene: ENSMUSG00000016626
AA Change: D581G

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	G	4: 144,396,637 (GRCm39)	V365A	probably damaging	Het
Abca13	A	G	11: 9,241,893 (GRCm39)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,255,857 (GRCm39)	F543I	probably damaging	Het
Adam15	T	A	3: 89,254,287 (GRCm39)	Q170L	possibly damaging	Het
Aldoc	A	G	11: 78,215,282 (GRCm39)	I19V	possibly damaging	Het
Aoc1l1	T	A	6: 48,953,306 (GRCm39)	Y410*	probably null	Het
Atrip	T	C	9: 108,889,488 (GRCm39)	I711M	probably benign	Het
Brwd1	A	C	16: 95,867,698 (GRCm39)	L149R	probably damaging	Het
Capn9	A	T	8: 125,303,017 (GRCm39)	D45V	probably damaging	Het
Card9	G	A	2: 26,248,847 (GRCm39)	R101C	probably damaging	Het
Ccdc87	A	G	19: 4,891,785 (GRCm39)	E759G	probably damaging	Het
Ccn1	T	C	3: 145,354,536 (GRCm39)	D125G	probably damaging	Het
Cep250	T	C	2: 155,806,997 (GRCm39)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,656,966 (GRCm39)	K3029E	probably benign	Het
Chrna9	G	A	5: 66,134,484 (GRCm39)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,758,639 (GRCm39)	S367L	probably benign	Het
Col5a1	A	G	2: 27,819,498 (GRCm39)	D200G	unknown	Het
Crhr2	T	C	6: 55,069,112 (GRCm39)	N388D		Het
Cyp2b23	A	G	7: 26,380,838 (GRCm39)	L129P	probably benign	Het
Dctd	A	G	8: 48,565,075 (GRCm39)	S67G	probably benign	Het
Dhtkd1	C	G	2: 5,908,881 (GRCm39)	V738L	probably benign	Het
Dnah17	C	T	11: 117,970,484 (GRCm39)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,720,932 (GRCm39)	A2819S	probably benign	Het
Dnai7	A	T	6: 145,123,132 (GRCm39)	L578Q	probably null	Het
Dot1l	A	G	10: 80,628,175 (GRCm39)	H1071R	unknown	Het
Dync2h1	T	A	9: 7,075,786 (GRCm39)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,307,272 (GRCm39)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,931,913 (GRCm39)	R29W	probably null	Het
Evc2	A	G	5: 37,567,602 (GRCm39)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,555,679 (GRCm39)		probably benign	Het
Fibp	T	A	19: 5,511,519 (GRCm39)	I129N	probably damaging	Het
Folh1	G	T	7: 86,375,320 (GRCm39)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 97,083,027 (GRCm39)	T108S	probably damaging	Het
H1f7	T	A	15: 98,154,250 (GRCm39)	K300*	probably null	Het
Hecw2	A	T	1: 53,904,280 (GRCm39)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,864,409 (GRCm39)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,916,764 (GRCm39)	C20*	probably null	Het
Iho1	A	T	9: 108,294,619 (GRCm39)	D98E	probably benign	Het
Iqca1l	A	G	5: 24,753,954 (GRCm39)	V435A	possibly damaging	Het
Ivd	C	A	2: 118,700,255 (GRCm39)	T94K	probably damaging	Het
Kank2	C	T	9: 21,705,975 (GRCm39)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,417,562 (GRCm39)	Y889C	probably damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,747,497 (GRCm39)		probably benign	Het
Kmt5b	T	A	19: 3,865,412 (GRCm39)	D825E	probably benign	Het
Krt39	C	T	11: 99,411,697 (GRCm39)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,676,283 (GRCm39)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,804,204 (GRCm39)	V365E	probably benign	Het
Lonp1	C	T	17: 56,924,814 (GRCm39)	R531Q	probably damaging	Het
Mecom	T	A	3: 30,035,094 (GRCm39)	H194L	probably damaging	Het
Mlx	C	T	11: 100,980,068 (GRCm39)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,685,940 (GRCm39)	S77P	probably damaging	Het
Mst1	A	G	9: 107,962,130 (GRCm39)	E716G	probably null	Het
Mttp	C	T	3: 137,821,893 (GRCm39)	V210I	probably benign	Het
Mug2	T	C	6: 122,052,206 (GRCm39)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm39)	M1T	probably null	Het
Neurog1	A	T	13: 56,399,563 (GRCm39)	N61K	probably benign	Het
Nlrp4a	C	A	7: 26,149,258 (GRCm39)	N288K	probably benign	Het
Notch3	T	A	17: 32,363,191 (GRCm39)	H1264L	probably benign	Het
Or1e25	A	T	11: 73,493,562 (GRCm39)	D52V	possibly damaging	Het
Or1e34	A	T	11: 73,778,780 (GRCm39)	C139*	probably null	Het
Or3a1c	A	G	11: 74,046,606 (GRCm39)	M209V	probably benign	Het
Patl2	A	T	2: 121,952,263 (GRCm39)		probably null	Het
Pfkfb4	A	G	9: 108,836,370 (GRCm39)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,135,035 (GRCm39)	E471G	probably null	Het
Postn	T	C	3: 54,270,056 (GRCm39)	V45A	probably damaging	Het
Ppan	T	A	9: 20,802,450 (GRCm39)	V257E	possibly damaging	Het
Ptcra	C	G	17: 47,074,522 (GRCm39)	A7P	probably damaging	Het
Ptprd	C	T	4: 75,984,577 (GRCm39)	R523H	probably damaging	Het
Pycr3	A	T	15: 75,790,544 (GRCm39)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,821,708 (GRCm39)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,746,028 (GRCm39)	K668*	probably null	Het
Ryr2	A	T	13: 11,655,213 (GRCm39)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,683,697 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,381,364 (GRCm39)	S974T	probably damaging	Het
Semp2l2a	A	T	8: 13,886,982 (GRCm39)	W370R	probably damaging	Het
Setbp1	A	G	18: 79,130,175 (GRCm39)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,395,590 (GRCm39)		probably benign	Het
Sh3pxd2b	A	G	11: 32,372,072 (GRCm39)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,454,614 (GRCm39)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,135,274 (GRCm39)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,339,189 (GRCm39)	I109S	probably damaging	Het
Spart	T	C	3: 55,029,220 (GRCm39)		probably null	Het
Sptbn2	A	T	19: 4,799,488 (GRCm39)	Q2097L	probably null	Het
Syne1	T	C	10: 5,178,221 (GRCm39)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,482,615 (GRCm39)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,348,247 (GRCm39)	I264K	probably damaging	Het
Tom1	T	A	8: 75,783,877 (GRCm39)	I287N	possibly damaging	Het
Top2a	G	A	11: 98,895,008 (GRCm39)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,728,410 (GRCm39)	V290E	probably damaging	Het
Try4	T	C	6: 41,281,337 (GRCm39)	I93T	probably benign	Het
Usp24	T	A	4: 106,239,500 (GRCm39)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,130,745 (GRCm39)	R109S	probably benign	Het
Vav3	T	A	3: 109,571,662 (GRCm39)	F755I	probably damaging	Het
Vezt	A	T	10: 93,806,409 (GRCm39)	Y667*	probably null	Het
Vmn1r231	T	A	17: 21,110,140 (GRCm39)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,286,354 (GRCm39)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm39)	T449A	probably benign	Het
Zfp956	C	A	6: 47,932,781 (GRCm39)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,709,443 (GRCm39)	W152R	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
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

Predicted Primers

PCR Primer
(F):5'- AAGGTGTCTGGTGGACTCTC -3'
(R):5'- TTCCCCTAACAAGTAGAAGGTAAGAC -3'

Sequencing Primer
(F):5'- GTGGACTCTCCCTAGCAAAGATG -3'
(R):5'- TAATTGCCCTACTCTGGAGGCAG -3'

Posted On

2019-05-15