Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Nlrp1a'

65682

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

038566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71092236-71144704 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 71114004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048514] [ENSMUST00000108518]

AlphaFold

Q2LKU9

Predicted Effect

unknown
Transcript: ENSMUST00000048514
AA Change: Q711L

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: Q711L

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NACHT	133	302	4.6e-41	PFAM
low complexity region	482	494	N/A	INTRINSIC
LRR	632	659	4.53e-1	SMART
LRR	742	769	3.04e-5	SMART
low complexity region	856	870	N/A	INTRINSIC
Pfam:FIIND	921	1173	1.6e-102	PFAM
Pfam:CARD	1209	1292	2.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108518

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NACHT	133	302	1.1e-40	PFAM
low complexity region	482	494	N/A	INTRINSIC
LRR	632	659	4.53e-1	SMART
LRR	661	688	2.85e1	SMART
LRR	689	716	3.04e-5	SMART
Pfam:FIIND	819	1073	3e-136	PFAM
Pfam:CARD	1091	1174	8.2e-20	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

MGI Phenotype

PHENOTYPE: Mice heterozygous for an ENU-induced allele develop a multi-organ neutrophilic inflammatory disease. Homozygotes for the same ENU-induced allele develop a similar but lethal condition and exhibit neutrophilia, lymphopenia, splenomegaly, loss of peritoneal macrophages, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523		probably benign	Het
Ankrd6	T	C	4: 32,836,424	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290	V429A	probably benign	Het
C7	T	A	15: 4,988,962	T800S	probably benign	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007	N310K	probably damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Dpp6	T	C	5: 27,652,269	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950	Y82C	probably damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gm6614	A	C	6: 141,982,327		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184		probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Icam4	A	G	9: 21,029,821	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729	I330T	probably damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795	H99R	probably damaging	Het
Maats1	T	A	16: 38,298,297		probably null	Het
Me3	T	A	7: 89,786,414		probably null	Het
Med13	T	C	11: 86,329,161		probably benign	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,368	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp5-ps	A	C	7: 14,583,091		noncoding transcript	Het
Nup188	T	G	2: 30,326,479	I765S	probably null	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr348	T	A	2: 36,787,440	M305K	probably benign	Het
Olfr76	G	T	19: 12,119,853	D286E	possibly damaging	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Otogl	T	A	10: 107,770,650		probably benign	Het
Pcnx3	G	A	19: 5,665,583	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,488,761		probably benign	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,761,405		probably benign	Het
Slc23a1	T	A	18: 35,622,979		probably benign	Het
Sparcl1	T	A	5: 104,089,637	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649	C669S	probably damaging	Het
Wdr61	A	T	9: 54,727,578		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	probably benign	Het

Other mutations in Nlrp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Nlrp1a	APN	11	71092957	missense	probably benign	0.00
IGL00771:Nlrp1a	APN	11	71122741	nonsense	probably null
IGL01408:Nlrp1a	APN	11	71122916	missense	probably benign	0.04
IGL01886:Nlrp1a	APN	11	71123501	missense	probably benign
IGL02221:Nlrp1a	APN	11	71123118	missense	possibly damaging	0.88
IGL02291:Nlrp1a	APN	11	71122589	critical splice donor site	probably null
IGL02375:Nlrp1a	APN	11	71113513	nonsense	probably null
IGL02408:Nlrp1a	APN	11	71122630	missense	probably benign	0.00
IGL02516:Nlrp1a	APN	11	71114460	missense	probably damaging	1.00
IGL02583:Nlrp1a	APN	11	71123401	missense	probably benign	0.03
IGL02622:Nlrp1a	APN	11	71123000	missense	possibly damaging	0.88
IGL02642:Nlrp1a	APN	11	71123532	missense	probably benign	0.12
IGL02823:Nlrp1a	APN	11	71092423	missense	probably damaging	0.96
IGL02859:Nlrp1a	APN	11	71106086	missense	possibly damaging	0.57
IGL02997:Nlrp1a	APN	11	71123665	missense	probably damaging	1.00
IGL03342:Nlrp1a	APN	11	71122791	missense	probably benign	0.19
Ants	UTSW	11	71142338	missense	probably benign	0.01
dreary	UTSW	11	71113640	critical splice acceptor site	probably null
picnic	UTSW	11	71122747	missense	possibly damaging	0.87
seedless	UTSW	11	71123552	missense	probably benign	0.44
watermelon	UTSW	11	71122705	missense	probably benign	0.08
R0022:Nlrp1a	UTSW	11	71123381	missense	probably damaging	0.99
R0345:Nlrp1a	UTSW	11	71123675	missense	probably damaging	1.00
R0364:Nlrp1a	UTSW	11	71114004	intron	probably benign
R0566:Nlrp1a	UTSW	11	71122942	missense	probably benign	0.00
R1177:Nlrp1a	UTSW	11	71107721	missense	probably damaging	1.00
R1240:Nlrp1a	UTSW	11	71113466	critical splice donor site	probably null
R1263:Nlrp1a	UTSW	11	71097122	missense	probably benign	0.01
R1681:Nlrp1a	UTSW	11	71142358	missense	unknown
R1743:Nlrp1a	UTSW	11	71124206	missense	probably benign	0.04
R1826:Nlrp1a	UTSW	11	71107980	intron	probably benign
R1826:Nlrp1a	UTSW	11	71122747	missense	possibly damaging	0.87
R1981:Nlrp1a	UTSW	11	71098938	missense	probably damaging	1.00
R2083:Nlrp1a	UTSW	11	71124220	missense	possibly damaging	0.59
R2116:Nlrp1a	UTSW	11	71114500	nonsense	probably null
R2134:Nlrp1a	UTSW	11	71124188	missense	probably benign	0.00
R2148:Nlrp1a	UTSW	11	71122907	nonsense	probably null
R2301:Nlrp1a	UTSW	11	71106101	missense	possibly damaging	0.94
R3029:Nlrp1a	UTSW	11	71123630	missense	probably damaging	1.00
R3113:Nlrp1a	UTSW	11	71123665	missense	probably damaging	1.00
R3801:Nlrp1a	UTSW	11	71122703	missense	probably benign	0.08
R3898:Nlrp1a	UTSW	11	71122874	missense	probably benign	0.00
R4254:Nlrp1a	UTSW	11	71123028	nonsense	probably null
R4397:Nlrp1a	UTSW	11	71097204	missense	probably benign	0.00
R4647:Nlrp1a	UTSW	11	71097126	splice site	probably null
R4740:Nlrp1a	UTSW	11	71113640	critical splice acceptor site	probably null
R4965:Nlrp1a	UTSW	11	71092315	missense	possibly damaging	0.94
R5009:Nlrp1a	UTSW	11	71122705	missense	probably benign	0.08
R5103:Nlrp1a	UTSW	11	71099526	missense	probably damaging	0.99
R5355:Nlrp1a	UTSW	11	71124251	missense	probably benign	0.00
R5577:Nlrp1a	UTSW	11	71099574	missense	probably damaging	1.00
R5892:Nlrp1a	UTSW	11	71099645	missense	probably damaging	1.00
R5949:Nlrp1a	UTSW	11	71098989	missense	probably damaging	1.00
R5964:Nlrp1a	UTSW	11	71123020	missense	probably benign	0.00
R6220:Nlrp1a	UTSW	11	71142338	missense	probably benign	0.01
R6564:Nlrp1a	UTSW	11	71123572	missense	probably damaging	1.00
R6586:Nlrp1a	UTSW	11	71106073	missense	probably benign	0.00
R6925:Nlrp1a	UTSW	11	71092513	missense	probably null	0.99
R7013:Nlrp1a	UTSW	11	71123552	missense	probably benign	0.44
R7155:Nlrp1a	UTSW	11	71124079	missense	possibly damaging	0.93
R7214:Nlrp1a	UTSW	11	71123293	missense	probably damaging	1.00
R7268:Nlrp1a	UTSW	11	71124242	missense	probably benign	0.00
R7388:Nlrp1a	UTSW	11	71123197	missense	probably damaging	1.00
R7404:Nlrp1a	UTSW	11	71097093	nonsense	probably null
R7409:Nlrp1a	UTSW	11	71122808	missense	probably benign	0.03
R7410:Nlrp1a	UTSW	11	71123857	missense	probably damaging	0.99
R7440:Nlrp1a	UTSW	11	71092324	missense	probably damaging	0.99
R7447:Nlrp1a	UTSW	11	71092411	missense	probably damaging	1.00
R7450:Nlrp1a	UTSW	11	71107658	missense	probably damaging	1.00
R7569:Nlrp1a	UTSW	11	71109043	missense	probably benign	0.00
R7600:Nlrp1a	UTSW	11	71098914	missense	probably damaging	0.96
R7634:Nlrp1a	UTSW	11	71099528	missense	probably benign	0.19
R7734:Nlrp1a	UTSW	11	71108000	missense	unknown
R7747:Nlrp1a	UTSW	11	71123408	missense	possibly damaging	0.85
R8471:Nlrp1a	UTSW	11	71123059	missense	possibly damaging	0.68
R8482:Nlrp1a	UTSW	11	71109075	splice site	probably null
R9008:Nlrp1a	UTSW	11	71123909	missense	possibly damaging	0.89
R9028:Nlrp1a	UTSW	11	71122993	missense	probably benign	0.27
R9441:Nlrp1a	UTSW	11	71123108	missense	probably damaging	1.00
R9516:Nlrp1a	UTSW	11	71107662	missense	probably benign	0.05
R9701:Nlrp1a	UTSW	11	71097120	missense	probably benign	0.08
X0026:Nlrp1a	UTSW	11	71142316	missense	probably benign	0.18
Z1177:Nlrp1a	UTSW	11	71123169	missense	probably benign	0.27
Z1186:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1186:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1187:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1187:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1188:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1188:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1189:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1189:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1190:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1190:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1191:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1191:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null
Z1192:Nlrp1a	UTSW	11	71092243	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71097251	missense	probably damaging	0.96
Z1192:Nlrp1a	UTSW	11	71099616	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71124088	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71142529	critical splice acceptor site	probably null

Predicted Primers

Posted On

2013-08-08