Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Nlrp1a'

64801

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0022 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

70983062-71035530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71014207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 348 (T348P)

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: T348P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: T348P

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: T348P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: T348P

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

0.5121

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.8%

Validation Efficiency

100% (68/68)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,587,485 (GRCm39)		probably null	Het
Arhgap29	G	A	3: 121,782,586 (GRCm39)	V91I	possibly damaging	Het
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Bpifb5	A	T	2: 154,072,268 (GRCm39)	D325V	probably damaging	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Col5a2	G	A	1: 45,422,843 (GRCm39)	R1125*	probably null	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Cracdl	C	T	1: 37,667,326 (GRCm39)	R240Q	probably damaging	Het
Crebbp	A	T	16: 3,903,092 (GRCm39)	V2049E	probably damaging	Het
Cryga	T	C	1: 65,142,382 (GRCm39)	I4V	probably damaging	Het
D930020B18Rik	A	G	10: 121,507,675 (GRCm39)	T138A	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Dpy19l2	A	G	9: 24,607,420 (GRCm39)	S14P	probably benign	Het
Elavl3	C	A	9: 21,948,167 (GRCm39)		probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Exoc7	A	T	11: 116,188,408 (GRCm39)	I297N	possibly damaging	Het
Gdpd4	A	T	7: 97,632,082 (GRCm39)	N332Y	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Ifi208	A	G	1: 173,510,612 (GRCm39)	T256A	possibly damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lmntd1	T	A	6: 145,375,716 (GRCm39)	Y74F	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,471,853 (GRCm39)	S71A	probably benign	Het
Mcm7	T	C	5: 138,162,981 (GRCm39)	*390W	probably null	Het
Myo18a	T	C	11: 77,734,059 (GRCm39)		probably null	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Or4f53	A	G	2: 111,087,994 (GRCm39)	Y178C	probably benign	Het
Pabpc6	A	T	17: 9,888,145 (GRCm39)	N135K	probably benign	Het
Pdzd2	G	A	15: 12,371,691 (GRCm39)	A2568V	possibly damaging	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Plekhb2	G	A	1: 34,905,320 (GRCm39)		probably benign	Het
Plxnb2	A	G	15: 89,047,479 (GRCm39)		probably null	Het
Pmfbp1	C	T	8: 110,252,039 (GRCm39)	R395W	probably damaging	Het
Pnldc1	A	G	17: 13,109,006 (GRCm39)	Y497H	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Relch	T	A	1: 105,619,627 (GRCm39)		probably benign	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Rnf157	A	T	11: 116,240,276 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Strc	A	G	2: 121,198,874 (GRCm39)	L1391P	probably damaging	Het
Tek	G	A	4: 94,725,509 (GRCm39)	V592M	probably damaging	Het
Top1	A	C	2: 160,544,719 (GRCm39)	K278N	possibly damaging	Het
Utrn	C	T	10: 12,585,700 (GRCm39)		probably benign	Het
Wdr7	T	C	18: 63,910,705 (GRCm39)	I699T	probably damaging	Het
Zfp30	A	G	7: 29,491,860 (GRCm39)	E119G	possibly damaging	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
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	70,998,806 (GRCm39)	intron	probably benign
R1826:Nlrp1a	UTSW	11	71,013,573 (GRCm39)	missense	possibly damaging	0.87
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
R3113:Nlrp1a	UTSW	11	71,014,491 (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'- GAACTCCTGAAGACACAAGTGGGC -3'
(R):5'- AATTCATTCCTTCCCTGGAGCAGC -3'

Sequencing Primer
(F):5'- TTGAAGGACACCAATCTTCAGG -3'
(R):5'- GCCATGTCAAGTGGAAGTCC -3'

Posted On

2013-08-06