Mutagenetix > Incidental Mutation

Incidental Mutation 'R7440:Nlrp1a'

576908

Institutional Source

Beutler Lab

Gene Symbol

Nlrp1a

Ensembl Gene

ENSMUSG00000069830

Gene Name

NLR family, pyrin domain containing 1A

Synonyms

Nalp1

MMRRC Submission

045516-MU

Accession Numbers

Essential gene?

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

Stock #

R7440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70983062-71035530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70983150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1272 (D1272G)

Ref Sequence

ENSEMBL: ENSMUSP00000038186 (fasta)

Gene Model

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

AlphaFold

Q2LKU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000048514
AA Change: D1272G

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

SMART Domains

Protein: ENSMUSP00000038186
Gene: ENSMUSG00000069830
AA Change: D1272G

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: D1154G

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104158
Gene: ENSMUSG00000069830
AA Change: D1154G

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,628,626 (GRCm39)	T403I	probably damaging	Het
Adat1	A	T	8: 112,716,530 (GRCm39)	M64K	probably damaging	Het
Adcy2	C	T	13: 68,944,786 (GRCm39)	V199M	probably damaging	Het
Ankrd13a	T	C	5: 114,941,636 (GRCm39)	S508P	possibly damaging	Het
Ap1g1	T	A	8: 110,529,356 (GRCm39)		probably null	Het
Bicral	C	T	17: 47,136,710 (GRCm39)	G167R	probably damaging	Het
Ccser2	T	C	14: 36,620,174 (GRCm39)	K727E	possibly damaging	Het
Cep350	T	G	1: 155,816,518 (GRCm39)	K332N	probably damaging	Het
Cfap68	A	G	9: 50,676,213 (GRCm39)	V35A	probably benign	Het
Chd5	A	G	4: 152,469,108 (GRCm39)	N1811S	probably benign	Het
Chpf	A	T	1: 75,452,245 (GRCm39)	V565D	probably damaging	Het
Clcn6	A	T	4: 148,098,652 (GRCm39)	L489H	probably damaging	Het
Cntln	C	A	4: 84,981,453 (GRCm39)	T877K	possibly damaging	Het
Cog4	T	C	8: 111,606,338 (GRCm39)	V630A	probably benign	Het
Col6a5	G	T	9: 105,758,630 (GRCm39)	S2192*	probably null	Het
Cry2	G	A	2: 92,243,983 (GRCm39)	R397W	probably damaging	Het
Cstdc2	A	C	2: 148,688,911 (GRCm39)	C109W	probably damaging	Het
Cyp1b1	T	C	17: 80,020,986 (GRCm39)	N252S	probably damaging	Het
Dhx9	T	C	1: 153,356,977 (GRCm39)	I91V	probably benign	Het
Dnajb6	G	A	5: 29,962,857 (GRCm39)	A256T	possibly damaging	Het
Epm2a	T	G	10: 11,266,619 (GRCm39)	Y121*	probably null	Het
Erlec1	T	C	11: 30,900,818 (GRCm39)	I117V	possibly damaging	Het
Exoc8	T	C	8: 125,622,520 (GRCm39)	M616V	probably benign	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Fuz	T	C	7: 44,545,996 (GRCm39)	L46P	probably damaging	Het
Insc	T	C	7: 114,444,278 (GRCm39)	S422P	possibly damaging	Het
Intu	A	G	3: 40,651,981 (GRCm39)	I813V	probably benign	Het
Jak3	T	A	8: 72,133,362 (GRCm39)	S352T	probably benign	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Lrrc63	T	C	14: 75,358,453 (GRCm39)	N400D	possibly damaging	Het
Lrrk1	T	C	7: 65,940,602 (GRCm39)	D760G	probably damaging	Het
Macf1	A	T	4: 123,349,239 (GRCm39)	L3976*	probably null	Het
Map7	C	T	10: 20,137,605 (GRCm39)	A259V	probably damaging	Het
Meioc	T	A	11: 102,565,063 (GRCm39)	D170E	possibly damaging	Het
Mgat5b	T	A	11: 116,859,271 (GRCm39)	Y34*	probably null	Het
Mgst1	A	G	6: 138,127,842 (GRCm39)	K68R	probably benign	Het
Miga1	T	A	3: 152,043,683 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,413 (GRCm39)	P94L	probably damaging	Het
Ncapg2	G	T	12: 116,414,033 (GRCm39)	G1068C	possibly damaging	Het
Ndufaf7	C	T	17: 79,249,546 (GRCm39)	H148Y	probably damaging	Het
Nkx6-3	A	T	8: 23,643,770 (GRCm39)	D57V	probably damaging	Het
Oit3	T	C	10: 59,265,392 (GRCm39)	N291S	probably damaging	Het
Or1b1	A	T	2: 36,995,181 (GRCm39)	H160Q	possibly damaging	Het
Pld1	T	G	3: 28,095,419 (GRCm39)	S251A	probably benign	Het
Polr1h	T	A	17: 37,268,736 (GRCm39)	L75F	probably benign	Het
Potefam3a	C	T	8: 20,356,948 (GRCm38)	S254N	unknown	Het
Ppfibp1	T	C	6: 146,921,001 (GRCm39)	S580P	probably benign	Het
Prdx6b	A	T	2: 80,123,560 (GRCm39)	D123V	probably damaging	Het
Ptprs	A	G	17: 56,731,256 (GRCm39)	L1050P	possibly damaging	Het
Rcc1	A	C	4: 132,065,110 (GRCm39)	S138A	probably damaging	Het
Rimbp3	G	T	16: 17,031,065 (GRCm39)	R1496S	possibly damaging	Het
Sacs	T	C	14: 61,429,054 (GRCm39)	V371A	probably benign	Het
Sfxn4	A	G	19: 60,830,642 (GRCm39)	L260P	possibly damaging	Het
Slc17a1	G	A	13: 24,062,466 (GRCm39)	S211N	possibly damaging	Het
Slc39a11	C	T	11: 113,452,918 (GRCm39)	V8M	probably damaging	Het
Smpd2	A	G	10: 41,365,012 (GRCm39)	I78T	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Syt17	A	T	7: 117,981,107 (GRCm39)	V462E	probably damaging	Het
Tlr11	T	A	14: 50,598,801 (GRCm39)	D262E	probably benign	Het
Tnfrsf9	T	C	4: 151,014,331 (GRCm39)	V10A	probably benign	Het
Trpv3	C	A	11: 73,168,800 (GRCm39)	Q87K	probably benign	Het
Ugt1a5	T	C	1: 88,094,281 (GRCm39)	Y170H	probably benign	Het
Urb1	A	G	16: 90,584,296 (GRCm39)	L562P	probably damaging	Het
Usp3	G	T	9: 66,437,537 (GRCm39)	N299K	probably benign	Het
Vmn1r83	T	C	7: 12,055,556 (GRCm39)	Y167C	probably damaging	Het
Vmn2r117	T	A	17: 23,694,539 (GRCm39)	Y436F	probably benign	Het
Vps13d	A	G	4: 144,854,981 (GRCm39)	I2220T		Het
Zfp936	T	A	7: 42,836,685 (GRCm39)	V32D	probably damaging	Het
Zswim2	A	G	2: 83,751,063 (GRCm39)	C259R	probably 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
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
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
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'- ATGGAAGCACTGCCACAAG -3'
(R):5'- GCACTTCATGGACCAGCATC -3'

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

Posted On

2019-10-07