Mutagenetix > Incidental Mutation

Incidental Mutation 'R4965:Nlrp1a'

383939

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71092236-71144704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71092315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1275 (Y1275F)

Ref Sequence

ENSEMBL: ENSMUSP00000038186 (fasta)

Gene Model

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

AlphaFold

Q2LKU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048514
AA Change: Y1275F

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: Y1275F

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

possibly damaging
Transcript: ENSMUST00000108518
AA Change: Y1157F

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: Y1157F

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,069,672	T1541A	probably benign	Het
2810474O19Rik	G	T	6: 149,328,398	G981*	probably null	Het
4931423N10Rik	C	A	2: 23,245,115	T312K	probably benign	Het
9530002B09Rik	T	C	4: 122,700,492	M59T	probably benign	Het
Adam18	C	T	8: 24,641,811	C428Y	probably damaging	Het
Adcy5	A	G	16: 35,278,502	E700G	possibly damaging	Het
Adprh	G	T	16: 38,445,780	Y333*	probably null	Het
Agfg2	C	A	5: 137,667,177		probably null	Het
Akip1	A	T	7: 109,711,754	E167V	probably damaging	Het
Akr1c21	A	T	13: 4,580,305	Q199L	probably damaging	Het
Aldh9a1	C	A	1: 167,365,789	A455E	probably damaging	Het
Amph	G	A	13: 19,137,699	S520N	probably benign	Het
Ankrd52	A	G	10: 128,390,507	D1006G	probably benign	Het
Ap5z1	A	C	5: 142,467,676	Q133P	probably damaging	Het
Babam1	C	T	8: 71,404,388	A331V	possibly damaging	Het
Btc	T	C	5: 91,362,301		probably null	Het
Cacna2d3	A	G	14: 28,982,332	F831L	probably benign	Het
Cadm3	G	A	1: 173,337,097	P372L	probably damaging	Het
Capn5	A	T	7: 98,126,417	M439K	probably damaging	Het
Carf	T	C	1: 60,150,637	S639P	probably damaging	Het
Casp12	C	T	9: 5,352,250	R81C	probably benign	Het
Ces2e	G	T	8: 104,933,698	R555M	probably benign	Het
Cfap54	T	A	10: 93,066,799	I164F	probably benign	Het
Cltc	C	T	11: 86,707,501	V1012I	probably damaging	Het
Cmya5	G	A	13: 93,095,787	T931I	possibly damaging	Het
Cntn6	A	G	6: 104,774,474	I364V	probably damaging	Het
Cntnap1	A	T	11: 101,177,425	I59F	possibly damaging	Het
Cop1	T	C	1: 159,239,597	M80T	probably damaging	Het
Cplx2	A	G	13: 54,379,647	S115G	possibly damaging	Het
Crtac1	A	G	19: 42,318,740	Y195H	probably damaging	Het
Csn1s2a	A	C	5: 87,781,838	S99R	possibly damaging	Het
Csn1s2b	T	A	5: 87,813,961	D41E	possibly damaging	Het
Cul9	C	T	17: 46,538,525	D565N	probably damaging	Het
Cux1	A	T	5: 136,311,556	N625K	possibly damaging	Het
Cyp2c37	A	T	19: 40,011,762	M443L	possibly damaging	Het
Cyp2s1	G	A	7: 25,809,285	T244I	possibly damaging	Het
Dgkh	C	T	14: 78,624,421	V135M	probably damaging	Het
Dtl	T	C	1: 191,546,565	E395G	possibly damaging	Het
Dyrk1a	G	T	16: 94,691,995	G658*	probably null	Het
Erlin2	T	C	8: 27,029,595	F117S	probably damaging	Het
Fkbp8	A	G	8: 70,531,523		probably null	Het
Fras1	T	C	5: 96,726,580	F2288S	possibly damaging	Het
Frmd3	A	G	4: 74,153,600	T240A	probably damaging	Het
H2-D1	A	G	17: 35,263,905	Y137C	probably damaging	Het
Helz2	A	G	2: 181,240,916	V28A	possibly damaging	Het
Hydin	A	G	8: 110,398,095	I579V	probably benign	Het
Il6	A	T	5: 30,013,493	Y29F	possibly damaging	Het
Ildr2	A	G	1: 166,307,840	D368G	probably damaging	Het
Junb	T	A	8: 84,978,159	I91F	probably damaging	Het
Kat2a	C	A	11: 100,712,203		probably benign	Het
Kat2a	A	T	11: 100,712,204		probably benign	Het
Kcnh5	T	A	12: 74,965,151	T665S	probably benign	Het
Kdm1b	A	T	13: 47,074,367	D608V	probably damaging	Het
Krcc1	A	G	6: 71,284,637	K218E	probably damaging	Het
Krt8	C	T	15: 101,996,951	V488M	probably benign	Het
Lzts1	C	T	8: 69,138,762	A245T	probably benign	Het
Mcm6	T	A	1: 128,359,486	Q27L	probably damaging	Het
Mfsd4b3	G	T	10: 39,947,690	Y191*	probably null	Het
Mgme1	C	T	2: 144,276,404	Q199*	probably null	Het
Mgme1	T	C	2: 144,279,620	L332P	probably benign	Het
Morc3	G	T	16: 93,860,587	E25*	probably null	Het
Mroh7	G	A	4: 106,690,987	A1098V	possibly damaging	Het
Mtrf1	G	A	14: 79,406,587	R174H	probably benign	Het
Mybpc3	G	A	2: 91,119,247	G45D	possibly damaging	Het
Mycbpap	A	T	11: 94,504,938	N733K	probably damaging	Het
N4bp1	T	C	8: 86,851,686	I684V	possibly damaging	Het
Nav2	A	T	7: 49,552,877	R1470*	probably null	Het
Ndufa9	A	T	6: 126,822,063	S364T	probably benign	Het
Nipal4	C	A	11: 46,162,010	A43S	possibly damaging	Het
Nova1	A	T	12: 46,720,835	L8*	probably null	Het
Odam	G	T	5: 87,890,108	G181*	probably null	Het
Olfr1111	T	A	2: 87,150,659	M1L	possibly damaging	Het
Olfr1297	T	C	2: 111,621,534	D180G	probably damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Olfr186	A	T	16: 59,027,333	D191E	probably damaging	Het
Olfr283	T	C	15: 98,379,149		probably benign	Het
Olfr33	A	T	7: 102,713,495	I306N	probably damaging	Het
Olfr723	C	T	14: 49,928,897	V216I	probably benign	Het
Optn	T	A	2: 5,021,379	Q576L	probably benign	Het
Patl2	G	T	2: 122,128,848	S45*	probably null	Het
Pde2a	G	A	7: 101,502,933	G349E	probably benign	Het
Pdlim2	T	A	14: 70,168,015		probably benign	Het
Per1	T	C	11: 69,104,401	V653A	probably benign	Het
Phlda2	A	G	7: 143,502,268	S75P	probably damaging	Het
Poldip3	A	T	15: 83,137,505	M167K	possibly damaging	Het
Prpf38a	T	C	4: 108,579,081	I12V	probably benign	Het
Prrc1	G	A	18: 57,374,550	V259I	possibly damaging	Het
Ptges3l	A	T	11: 101,424,622	M1K	probably null	Het
Rdh5	A	G	10: 128,913,784	Y296H	probably damaging	Het
Rnf2	T	A	1: 151,473,217	K51*	probably null	Het
Rpusd3	C	A	6: 113,416,848	R215L	probably benign	Het
Rsph4a	A	T	10: 33,909,240	E382D	probably damaging	Het
S1pr2	G	A	9: 20,968,449	Q28*	probably null	Het
Sesn1	A	T	10: 41,895,009	I179F	probably damaging	Het
Setd3	T	A	12: 108,113,371	E291V	probably benign	Het
Shc1	G	T	3: 89,426,996	R323L	probably damaging	Het
Slc22a5	T	C	11: 53,891,526	D5G	possibly damaging	Het
Slc6a19	T	C	13: 73,700,558	K26E	probably benign	Het
Slc9a3	A	G	13: 74,164,293	N670D	possibly damaging	Het
Spata19	A	T	9: 27,400,465	I127L	probably benign	Het
Speg	G	T	1: 75,427,703	V2751L	probably damaging	Het
Sptbn2	A	G	19: 4,729,309	D298G	probably benign	Het
Srm	T	C	4: 148,594,183	V289A	possibly damaging	Het
Stip1	C	T	19: 7,035,570	A49T	probably benign	Het
Tas2r118	C	A	6: 23,969,628	V145F	probably benign	Het
Tbc1d12	A	T	19: 38,865,725	K284*	probably null	Het
Tfcp2	T	C	15: 100,525,650	H125R	probably damaging	Het
Tfdp1	T	C	8: 13,373,073	V206A	probably damaging	Het
Tgtp2	A	G	11: 49,059,410	W112R	probably damaging	Het
Tmem71	T	G	15: 66,538,861	M221L	probably benign	Het
Tpcn1	T	C	5: 120,547,487	N436S	possibly damaging	Het
Usp4	C	T	9: 108,362,620	L183F	probably damaging	Het
Vmn2r55	A	T	7: 12,670,551	N308K	possibly damaging	Het
Zfp106	T	A	2: 120,533,919	D669V	probably damaging	Het
Zfp108	A	T	7: 24,260,148	I55L	probably benign	Het
Zfp512b	A	T	2: 181,586,338	S8R	probably damaging	Het
Zfp827	T	C	8: 79,061,281	S359P	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
R0360:Nlrp1a	UTSW	11	71114004	intron	probably benign
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
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

PCR Primer
(F):5'- TCATGGAAGCACTGCCACAAG -3'
(R):5'- GCACTTCATGGACCAGCATC -3'

Sequencing Primer
(F):5'- ACTCAGATGGCCATTGGTTACAG -3'
(R):5'- TTCATGGACCAGCATCGGGAG -3'

Posted On

2016-04-27