Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Nlrp1a'

686885

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

068857-MU

Accession Numbers

Essential gene?

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

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71092236-71144704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71122993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 477 (R477H)

Ref Sequence

ENSEMBL: ENSMUSP00000038186 (fasta)

Gene Model

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

AlphaFold

Q2LKU9

Predicted Effect

probably benign
Transcript: ENSMUST00000048514
AA Change: R477H

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: R477H

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
AA Change: R477H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: R477H

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,463,503	T687I	probably benign	Het
Aasdh	A	G	5: 76,876,130	V1066A	probably damaging	Het
Abca5	T	A	11: 110,298,078	H851L	probably damaging	Het
Actn2	T	C	13: 12,300,978	I218M	possibly damaging	Het
Afmid	G	A	11: 117,836,663	E338K	probably benign	Het
Amer3	G	A	1: 34,588,677	V666I	probably benign	Het
Apol7b	A	G	15: 77,423,416	V293A	probably damaging	Het
Bag6	T	A	17: 35,144,154	S657T	probably benign	Het
Btaf1	T	C	19: 36,969,108	L438P	probably damaging	Het
Cdc20	T	C	4: 118,436,560	E126G	probably benign	Het
Cep97	C	T	16: 55,919,552	W248*	probably null	Het
Cfap69	A	T	5: 5,646,958	S113T	probably benign	Het
Cgrrf1	C	A	14: 46,853,743	D241E	probably benign	Het
Cnksr1	T	C	4: 134,233,297	T280A	possibly damaging	Het
Cox4i1	T	A	8: 120,671,283		probably benign	Het
Cpm	T	A	10: 117,683,509	F441I	probably benign	Het
Cs	A	C	10: 128,353,083	M154L		Het
Dmrta1	T	A	4: 89,691,677	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,521,138	T2125A	probably benign	Het
Dock10	A	T	1: 80,606,295		probably benign	Het
Dok7	A	G	5: 35,079,475	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,915,548	Y225C	probably damaging	Het
F7	T	C	8: 13,026,087	L10P	possibly damaging	Het
Faf1	C	A	4: 109,890,908	T470K	possibly damaging	Het
Fam83h	A	T	15: 76,003,889	L533Q	possibly damaging	Het
Far1	T	A	7: 113,547,422	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,159,154	Y219H	probably damaging	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Gaa	T	A	11: 119,270,381	D83E	probably benign	Het
Gm6970	T	C	19: 47,170,690	K149E	unknown	Het
Grm2	A	G	9: 106,651,185	S167P	possibly damaging	Het
Hibch	T	C	1: 52,853,709	L26P	possibly damaging	Het
Hspa9	T	C	18: 34,942,031	E415G	probably damaging	Het
Ipo4	T	C	14: 55,628,951	Y757C	probably damaging	Het
Itk	T	A	11: 46,344,883		probably benign	Het
Kdm5a	C	T	6: 120,439,131	P1671S	probably benign	Het
Kif13a	G	A	13: 46,798,365	P811S	probably damaging	Het
Kif23	T	C	9: 61,921,059	E857G	probably damaging	Het
Kif2b	A	G	11: 91,577,185	S91P	probably benign	Het
Letm1	G	T	5: 33,752,503	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,497,973	M247K		Het
Mga	A	G	2: 119,947,589	I1872V	probably benign	Het
Mmp15	A	T	8: 95,369,688	N369I	probably benign	Het
Myo3a	T	A	2: 22,600,087	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,507,436	T855A		Het
Ncoa2	A	G	1: 13,152,855	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,453,571	C254*	probably null	Het
Nox3	T	A	17: 3,665,910	T407S	possibly damaging	Het
Olfr1229	T	A	2: 89,282,332	D267V	probably damaging	Het
Olfr1375	C	T	11: 51,048,833	T242M	probably damaging	Het
Olfr411	T	C	11: 74,346,921	Y101C	probably damaging	Het
Pfkp	T	A	13: 6,605,689	I303F	probably damaging	Het
Pgc	T	C	17: 47,733,058	Y292H	possibly damaging	Het
Phtf2	A	G	5: 20,794,375	Y257H	probably benign	Het
Pkdrej	T	C	15: 85,816,897	N1613D	probably damaging	Het
Prpmp5	C	T	6: 132,312,655	E69K	unknown	Het
Rapgef2	A	G	3: 79,074,344	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,649,690	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,460,398	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,726,452	I334N	probably damaging	Het
Slk	T	G	19: 47,620,073	N488K	probably benign	Het
Smarca5	T	C	8: 80,714,013	I607M	probably damaging	Het
Sspo	G	A	6: 48,496,153	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,922,111	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,005,201	H78R	probably benign	Het
Trav14-3	C	A	14: 53,763,430	Q33K	unknown	Het
Ubtd2	T	C	11: 32,499,432	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,089,344		probably null	Het
Vmn1r224	T	G	17: 20,419,850	S230A	possibly damaging	Het
Wee2	A	T	6: 40,444,255	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,961,073	E279G	probably damaging	Het
Zfp623	T	A	15: 75,947,500	F102I	probably damaging	Het
Zfpm2	A	C	15: 41,103,362	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,772,189		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
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
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'- ATCACGTGTGTCAGGAGCTC -3'
(R):5'- TTCCTGAAGATTGGTGTCCTTC -3'

Sequencing Primer
(F):5'- ACGTGTGTCAGGAGCTCCATATC -3'
(R):5'- ATTGGTGTCCTTCAAAAGCAGGC -3'

Posted On

2021-11-19