Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Nlrp1a'

263895

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70983062-71035530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71014491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 253 (I253N)

Ref Sequence

ENSEMBL: ENSMUSP00000104158 (fasta)

Gene Model

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

AlphaFold

Q2LKU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048514
AA Change: I253N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: I253N

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 damaging
Transcript: ENSMUST00000108518
AA Change: I253N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: I253N

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,105,134 (GRCm39)	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Ddx18	A	G	1: 121,493,877 (GRCm39)	S36P	possibly damaging	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Lrrc27	A	G	7: 138,798,223 (GRCm39)	D106G	probably damaging	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pak1	C	A	7: 97,515,321 (GRCm39)	S115*	probably null	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Spef1l	G	T	7: 139,555,878 (GRCm39)		probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Usp31	A	G	7: 121,278,736 (GRCm39)	S210P	probably damaging	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	Het

Other mutations in Nlrp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Nlrp1a	APN	11	70,983,783 (GRCm39)	missense	probably benign	0.00
IGL00771:Nlrp1a	APN	11	71,013,567 (GRCm39)	nonsense	probably null
IGL01408:Nlrp1a	APN	11	71,013,742 (GRCm39)	missense	probably benign	0.04
IGL01886:Nlrp1a	APN	11	71,014,327 (GRCm39)	missense	probably benign
IGL02221:Nlrp1a	APN	11	71,013,944 (GRCm39)	missense	possibly damaging	0.88
IGL02291:Nlrp1a	APN	11	71,013,415 (GRCm39)	critical splice donor site	probably null
IGL02375:Nlrp1a	APN	11	71,004,339 (GRCm39)	nonsense	probably null
IGL02408:Nlrp1a	APN	11	71,013,456 (GRCm39)	missense	probably benign	0.00
IGL02516:Nlrp1a	APN	11	71,005,286 (GRCm39)	missense	probably damaging	1.00
IGL02583:Nlrp1a	APN	11	71,014,227 (GRCm39)	missense	probably benign	0.03
IGL02622:Nlrp1a	APN	11	71,013,826 (GRCm39)	missense	possibly damaging	0.88
IGL02642:Nlrp1a	APN	11	71,014,358 (GRCm39)	missense	probably benign	0.12
IGL02823:Nlrp1a	APN	11	70,983,249 (GRCm39)	missense	probably damaging	0.96
IGL02859:Nlrp1a	APN	11	70,996,912 (GRCm39)	missense	possibly damaging	0.57
IGL02997:Nlrp1a	APN	11	71,014,491 (GRCm39)	missense	probably damaging	1.00
IGL03342:Nlrp1a	APN	11	71,013,617 (GRCm39)	missense	probably benign	0.19
Ants	UTSW	11	71,033,164 (GRCm39)	missense	probably benign	0.01
dreary	UTSW	11	71,004,466 (GRCm39)	critical splice acceptor site	probably null
picnic	UTSW	11	71,013,573 (GRCm39)	missense	possibly damaging	0.87
seedless	UTSW	11	71,014,378 (GRCm39)	missense	probably benign	0.44
watermelon	UTSW	11	71,013,531 (GRCm39)	missense	probably benign	0.08
R0022:Nlrp1a	UTSW	11	71,014,207 (GRCm39)	missense	probably damaging	0.99
R0345:Nlrp1a	UTSW	11	71,014,501 (GRCm39)	missense	probably damaging	1.00
R0360:Nlrp1a	UTSW	11	71,004,830 (GRCm39)	intron	probably benign
R0364:Nlrp1a	UTSW	11	71,004,830 (GRCm39)	intron	probably benign
R0566:Nlrp1a	UTSW	11	71,013,768 (GRCm39)	missense	probably benign	0.00
R1177:Nlrp1a	UTSW	11	70,998,547 (GRCm39)	missense	probably damaging	1.00
R1240:Nlrp1a	UTSW	11	71,004,292 (GRCm39)	critical splice donor site	probably null
R1263:Nlrp1a	UTSW	11	70,987,948 (GRCm39)	missense	probably benign	0.01
R1681:Nlrp1a	UTSW	11	71,033,184 (GRCm39)	missense	unknown
R1743:Nlrp1a	UTSW	11	71,015,032 (GRCm39)	missense	probably benign	0.04
R1826:Nlrp1a	UTSW	11	71,013,573 (GRCm39)	missense	possibly damaging	0.87
R1826:Nlrp1a	UTSW	11	70,998,806 (GRCm39)	intron	probably benign
R1981:Nlrp1a	UTSW	11	70,989,764 (GRCm39)	missense	probably damaging	1.00
R2083:Nlrp1a	UTSW	11	71,015,046 (GRCm39)	missense	possibly damaging	0.59
R2116:Nlrp1a	UTSW	11	71,005,326 (GRCm39)	nonsense	probably null
R2134:Nlrp1a	UTSW	11	71,015,014 (GRCm39)	missense	probably benign	0.00
R2148:Nlrp1a	UTSW	11	71,013,733 (GRCm39)	nonsense	probably null
R2301:Nlrp1a	UTSW	11	70,996,927 (GRCm39)	missense	possibly damaging	0.94
R3029:Nlrp1a	UTSW	11	71,014,456 (GRCm39)	missense	probably damaging	1.00
R3801:Nlrp1a	UTSW	11	71,013,529 (GRCm39)	missense	probably benign	0.08
R3898:Nlrp1a	UTSW	11	71,013,700 (GRCm39)	missense	probably benign	0.00
R4254:Nlrp1a	UTSW	11	71,013,854 (GRCm39)	nonsense	probably null
R4397:Nlrp1a	UTSW	11	70,988,030 (GRCm39)	missense	probably benign	0.00
R4647:Nlrp1a	UTSW	11	70,987,952 (GRCm39)	splice site	probably null
R4740:Nlrp1a	UTSW	11	71,004,466 (GRCm39)	critical splice acceptor site	probably null
R4965:Nlrp1a	UTSW	11	70,983,141 (GRCm39)	missense	possibly damaging	0.94
R5009:Nlrp1a	UTSW	11	71,013,531 (GRCm39)	missense	probably benign	0.08
R5103:Nlrp1a	UTSW	11	70,990,352 (GRCm39)	missense	probably damaging	0.99
R5355:Nlrp1a	UTSW	11	71,015,077 (GRCm39)	missense	probably benign	0.00
R5577:Nlrp1a	UTSW	11	70,990,400 (GRCm39)	missense	probably damaging	1.00
R5892:Nlrp1a	UTSW	11	70,990,471 (GRCm39)	missense	probably damaging	1.00
R5949:Nlrp1a	UTSW	11	70,989,815 (GRCm39)	missense	probably damaging	1.00
R5964:Nlrp1a	UTSW	11	71,013,846 (GRCm39)	missense	probably benign	0.00
R6220:Nlrp1a	UTSW	11	71,033,164 (GRCm39)	missense	probably benign	0.01
R6564:Nlrp1a	UTSW	11	71,014,398 (GRCm39)	missense	probably damaging	1.00
R6586:Nlrp1a	UTSW	11	70,996,899 (GRCm39)	missense	probably benign	0.00
R6925:Nlrp1a	UTSW	11	70,983,339 (GRCm39)	missense	probably null	0.99
R7013:Nlrp1a	UTSW	11	71,014,378 (GRCm39)	missense	probably benign	0.44
R7155:Nlrp1a	UTSW	11	71,014,905 (GRCm39)	missense	possibly damaging	0.93
R7214:Nlrp1a	UTSW	11	71,014,119 (GRCm39)	missense	probably damaging	1.00
R7268:Nlrp1a	UTSW	11	71,015,068 (GRCm39)	missense	probably benign	0.00
R7388:Nlrp1a	UTSW	11	71,014,023 (GRCm39)	missense	probably damaging	1.00
R7404:Nlrp1a	UTSW	11	70,987,919 (GRCm39)	nonsense	probably null
R7409:Nlrp1a	UTSW	11	71,013,634 (GRCm39)	missense	probably benign	0.03
R7410:Nlrp1a	UTSW	11	71,014,683 (GRCm39)	missense	probably damaging	0.99
R7440:Nlrp1a	UTSW	11	70,983,150 (GRCm39)	missense	probably damaging	0.99
R7447:Nlrp1a	UTSW	11	70,983,237 (GRCm39)	missense	probably damaging	1.00
R7450:Nlrp1a	UTSW	11	70,998,484 (GRCm39)	missense	probably damaging	1.00
R7569:Nlrp1a	UTSW	11	70,999,869 (GRCm39)	missense	probably benign	0.00
R7600:Nlrp1a	UTSW	11	70,989,740 (GRCm39)	missense	probably damaging	0.96
R7634:Nlrp1a	UTSW	11	70,990,354 (GRCm39)	missense	probably benign	0.19
R7734:Nlrp1a	UTSW	11	70,998,826 (GRCm39)	missense	unknown
R7747:Nlrp1a	UTSW	11	71,014,234 (GRCm39)	missense	possibly damaging	0.85
R8471:Nlrp1a	UTSW	11	71,013,885 (GRCm39)	missense	possibly damaging	0.68
R8482:Nlrp1a	UTSW	11	70,999,901 (GRCm39)	splice site	probably null
R9008:Nlrp1a	UTSW	11	71,014,735 (GRCm39)	missense	possibly damaging	0.89
R9028:Nlrp1a	UTSW	11	71,013,819 (GRCm39)	missense	probably benign	0.27
R9441:Nlrp1a	UTSW	11	71,013,934 (GRCm39)	missense	probably damaging	1.00
R9516:Nlrp1a	UTSW	11	70,998,488 (GRCm39)	missense	probably benign	0.05
R9701:Nlrp1a	UTSW	11	70,987,946 (GRCm39)	missense	probably benign	0.08
X0026:Nlrp1a	UTSW	11	71,033,142 (GRCm39)	missense	probably benign	0.18
Z1177:Nlrp1a	UTSW	11	71,013,995 (GRCm39)	missense	probably benign	0.27
Z1186:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1186:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1186:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1186:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1186:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1187:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1187:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1187:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1187:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1187:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1188:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1188:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1188:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1188:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1188:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1189:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1189:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1189:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1189:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1189:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1190:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1190:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1190:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1190:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1190:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1191:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1191:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1191:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1191:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1191:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign
Z1192:Nlrp1a	UTSW	11	70,990,442 (GRCm39)	missense	probably benign
Z1192:Nlrp1a	UTSW	11	70,988,077 (GRCm39)	missense	probably damaging	0.96
Z1192:Nlrp1a	UTSW	11	70,983,069 (GRCm39)	missense	probably benign
Z1192:Nlrp1a	UTSW	11	71,033,355 (GRCm39)	critical splice acceptor site	probably null
Z1192:Nlrp1a	UTSW	11	71,014,914 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCAGGAGCGCTGAGTTTG -3'
(R):5'- GTCTGGCTGAGCTCATAGTACAAG -3'

Sequencing Primer
(F):5'- CAGGAGCGCTGAGTTTGATTTAAC -3'
(R):5'- CTGAGCTCATAGTACAAGGCCAG -3'

Posted On

2015-02-05