Mutagenetix > Incidental Mutation

Incidental Mutation 'R1696:Nlrp4a'

192225

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4a

Ensembl Gene

ENSMUSG00000040601

Gene Name

NLR family, pyrin domain containing 4A

Synonyms

E330028A19Rik, Nalp-eta, Nalp4a

MMRRC Submission

039729-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R1696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26450534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 522 (S522F)

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068767] [ENSMUST00000119386] [ENSMUST00000146907]

AlphaFold

Q8BU40

Predicted Effect

probably damaging
Transcript: ENSMUST00000068767
AA Change: S522F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: S522F

Domain	Start	End	E-Value	Type
PYRIN	6	89	6.48e-34	SMART
Pfam:NACHT	148	317	4.9e-37	PFAM
Blast:LRR	634	661	4e-6	BLAST
low complexity region	666	677	N/A	INTRINSIC
LRR	689	716	5.96e0	SMART
LRR	718	745	1.99e1	SMART
LRR	746	772	1.02e0	SMART
LRR	774	801	4.66e1	SMART
LRR	802	829	1.18e-2	SMART
LRR	831	858	2.2e-2	SMART
LRR	859	886	5.59e-4	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	8.94e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119386
AA Change: S522F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: S522F

Domain	Start	End	E-Value	Type
PYRIN	6	89	6.48e-34	SMART
Pfam:NACHT	148	317	1.3e-37	PFAM
Blast:LRR	634	661	4e-6	BLAST
low complexity region	666	677	N/A	INTRINSIC
LRR	689	716	5.96e0	SMART
LRR	718	745	1.99e1	SMART
LRR	746	772	1.02e0	SMART
LRR	774	801	4.66e1	SMART
LRR	802	829	1.18e-2	SMART
LRR	831	858	2.2e-2	SMART
LRR	859	886	5.59e-4	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	8.94e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146534

Predicted Effect

probably damaging
Transcript: ENSMUST00000146907
AA Change: S522F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,560,597 (GRCm38)	T25A	possibly damaging	Het
Abca17	T	C	17: 24,267,658 (GRCm38)	Y1465C	possibly damaging	Het
Adgrb1	C	T	15: 74,588,107 (GRCm38)	R530W	probably damaging	Het
Ak9	A	G	10: 41,327,589 (GRCm38)	T159A	possibly damaging	Het
Akap13	G	A	7: 75,609,592 (GRCm38)	G655S	possibly damaging	Het
Amer2	T	A	14: 60,379,674 (GRCm38)	D439E	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754 (GRCm38)		probably null	Het
Arfgef2	T	A	2: 166,861,638 (GRCm38)	M870K	probably damaging	Het
Arhgef33	T	C	17: 80,349,506 (GRCm38)	F150S	probably damaging	Het
Arid2	A	T	15: 96,370,183 (GRCm38)	T726S	probably benign	Het
Atf7ip2	G	A	16: 10,234,331 (GRCm38)	V225I	probably damaging	Het
Atp12a	A	T	14: 56,366,088 (GRCm38)	E50V	probably damaging	Het
Bdkrb1	A	G	12: 105,604,502 (GRCm38)	N109S	probably benign	Het
Cald1	A	G	6: 34,745,711 (GRCm38)	E104G	probably damaging	Het
Capn15	A	G	17: 25,964,904 (GRCm38)	V267A	probably benign	Het
Ccng2	A	T	5: 93,273,382 (GRCm38)	K250N	possibly damaging	Het
Ccr10	T	A	11: 101,174,384 (GRCm38)	N107Y	probably benign	Het
Cntn2	T	C	1: 132,521,279 (GRCm38)	N664S	probably damaging	Het
Cyp24a1	T	G	2: 170,486,043 (GRCm38)	E426D	probably benign	Het
Cyp26a1	A	G	19: 37,701,178 (GRCm38)	S441G	probably benign	Het
Cyp4f14	T	A	17: 32,909,171 (GRCm38)	K290M	possibly damaging	Het
Dcp2	T	A	18: 44,400,324 (GRCm38)	L114Q	probably damaging	Het
Dhrs7	A	G	12: 72,653,120 (GRCm38)	F246S	possibly damaging	Het
Dlg1	T	C	16: 31,781,798 (GRCm38)	V167A	probably damaging	Het
Dnmt3b	A	T	2: 153,676,710 (GRCm38)	K598*	probably null	Het
Dph7	T	C	2: 24,969,680 (GRCm38)		probably null	Het
Ehbp1	T	C	11: 22,053,441 (GRCm38)	M1103V	probably damaging	Het
Ell2	T	C	13: 75,769,558 (GRCm38)	S536P	probably damaging	Het
Ero1l	A	T	14: 45,299,935 (GRCm38)	V178E	probably damaging	Het
Faf2	T	A	13: 54,638,254 (GRCm38)	*50R	probably null	Het
Fbxl14	A	T	6: 119,480,146 (GRCm38)	N96I	probably damaging	Het
Fcrls	T	C	3: 87,259,518 (GRCm38)	Y56C	possibly damaging	Het
Foxc1	T	A	13: 31,808,799 (GRCm38)	M531K	unknown	Het
Foxp1	A	C	6: 98,945,702 (GRCm38)	S391A	probably benign	Het
Frem2	A	T	3: 53,656,042 (GRCm38)	L348*	probably null	Het
Fsd1	T	A	17: 55,988,257 (GRCm38)		probably null	Het
Gab2	A	G	7: 97,223,633 (GRCm38)	E81G	probably damaging	Het
Gcat	G	A	15: 79,035,795 (GRCm38)	V196M	probably damaging	Het
Gfy	T	C	7: 45,178,046 (GRCm38)	T209A	possibly damaging	Het
Ggt7	T	C	2: 155,494,979 (GRCm38)	N531S	possibly damaging	Het
Gnai3	A	G	3: 108,109,459 (GRCm38)	I343T	probably damaging	Het
H2-DMa	A	T	17: 34,138,413 (GRCm38)	Q220L	probably benign	Het
Heatr1	A	G	13: 12,423,721 (GRCm38)	I1346V	possibly damaging	Het
Igfbp1	T	C	11: 7,201,922 (GRCm38)	W242R	probably damaging	Het
Igfbp1	T	A	11: 7,197,978 (GRCm38)	V7D	probably benign	Het
Kbtbd2	T	G	6: 56,779,341 (GRCm38)	K470T	probably benign	Het
Klb	G	C	5: 65,348,746 (GRCm38)	R112P	possibly damaging	Het
Klhl25	G	T	7: 75,866,843 (GRCm38)	G499V	probably damaging	Het
Krt7	A	T	15: 101,423,426 (GRCm38)	T375S	probably benign	Het
Krt73	G	A	15: 101,799,909 (GRCm38)	L238F	probably damaging	Het
Lama5	G	T	2: 180,202,486 (GRCm38)	H331Q	probably damaging	Het
Leng8	T	G	7: 4,145,136 (GRCm38)	F663V	probably damaging	Het
Lrp12	G	T	15: 39,878,361 (GRCm38)	H338Q	probably damaging	Het
Lrp6	T	A	6: 134,468,723 (GRCm38)	R1042S	probably damaging	Het
Map6	T	A	7: 99,317,457 (GRCm38)		probably null	Het
Mdn1	T	C	4: 32,700,417 (GRCm38)	F1459L	possibly damaging	Het
Mmp1b	T	C	9: 7,386,699 (GRCm38)	T142A	probably damaging	Het
Mmp23	T	A	4: 155,650,709 (GRCm38)	*392C	probably null	Het
Nup93	T	G	8: 94,296,555 (GRCm38)	F254V	probably benign	Het
Oas1h	G	T	5: 120,862,822 (GRCm38)		probably null	Het
Ocstamp	A	G	2: 165,396,174 (GRCm38)	L390P	probably damaging	Het
Olfm1	C	A	2: 28,208,116 (GRCm38)	Y20*	probably null	Het
Olfr1111	A	G	2: 87,150,380 (GRCm38)	F94L	probably benign	Het
Olfr455	C	T	6: 42,538,603 (GRCm38)	V140M	probably benign	Het
Olfr541	A	T	7: 140,704,496 (GRCm38)	K82*	probably null	Het
Olfr608	T	C	7: 103,470,177 (GRCm38)	V46A	probably benign	Het
Olfr853	A	G	9: 19,537,894 (GRCm38)	F12S	probably damaging	Het
Pgghg	T	C	7: 140,945,311 (GRCm38)	V410A	possibly damaging	Het
Polr2b	T	A	5: 77,342,648 (GRCm38)	D878E	probably benign	Het
Pspc1	T	C	14: 56,764,243 (GRCm38)	T225A	probably benign	Het
Rad21l	A	T	2: 151,668,527 (GRCm38)	Y3N	probably damaging	Het
Rbl2	A	G	8: 91,085,724 (GRCm38)	N280S	probably benign	Het
Rdm1	C	A	11: 101,630,868 (GRCm38)	Q150K	probably benign	Het
Rrp12	A	T	19: 41,873,749 (GRCm38)	F932I	probably damaging	Het
Ryr2	A	T	13: 11,731,657 (GRCm38)	M2003K	probably benign	Het
Scfd2	T	C	5: 74,530,878 (GRCm38)	T248A	probably benign	Het
Slc22a16	G	A	10: 40,584,927 (GRCm38)	A242T	possibly damaging	Het
Slit3	C	A	11: 35,675,923 (GRCm38)	N1007K	probably damaging	Het
Sntg2	C	A	12: 30,267,063 (GRCm38)	G187C	probably damaging	Het
Spag5	T	C	11: 78,321,326 (GRCm38)	V1060A	probably damaging	Het
Spg7	G	A	8: 123,090,225 (GRCm38)	V552I	probably benign	Het
Spns2	T	A	11: 72,456,347 (GRCm38)	T434S	probably benign	Het
Srpk2	C	T	5: 23,548,494 (GRCm38)	W87*	probably null	Het
St3gal3	T	C	4: 117,940,392 (GRCm38)	I268V	possibly damaging	Het
Stat6	T	C	10: 127,653,049 (GRCm38)	C356R	probably damaging	Het
Stx8	A	G	11: 68,011,422 (GRCm38)	Q144R	probably damaging	Het
Tcn2	C	A	11: 3,922,169 (GRCm38)	L319F	probably damaging	Het
Tex14	T	C	11: 87,511,545 (GRCm38)	I486T	possibly damaging	Het
Thtpa	T	C	14: 55,095,785 (GRCm38)	V109A	probably benign	Het
Tmem127	C	A	2: 127,248,707 (GRCm38)	L48I	probably damaging	Het
Tnfaip8	A	T	18: 50,090,223 (GRCm38)	K9*	probably null	Het
Tnfrsf1b	T	A	4: 145,227,474 (GRCm38)	T102S	probably benign	Het
Tor1aip1	A	T	1: 156,017,516 (GRCm38)	M110K	possibly damaging	Het
Trim10	A	T	17: 36,877,181 (GRCm38)	K430*	probably null	Het
Trove2	T	A	1: 143,757,837 (GRCm38)	I508F	probably damaging	Het
Trpv6	A	G	6: 41,621,768 (GRCm38)	V641A	possibly damaging	Het
Ttf1	T	G	2: 29,070,002 (GRCm38)	Y541D	probably damaging	Het
Ttn	A	G	2: 76,764,406 (GRCm38)	V20432A	probably damaging	Het
Vac14	A	T	8: 110,632,447 (GRCm38)		probably null	Het
Vipr2	G	T	12: 116,139,157 (GRCm38)	A296S	probably benign	Het
Vmn1r1	T	C	1: 182,158,059 (GRCm38)	R14G	probably benign	Het
Vmn1r178	T	A	7: 23,894,200 (GRCm38)	N151K	probably damaging	Het
Vmn1r58	T	A	7: 5,410,728 (GRCm38)	I168F	possibly damaging	Het
Vmn1r77	C	T	7: 12,041,620 (GRCm38)	Q40*	probably null	Het
Vmn2r76	T	C	7: 86,231,256 (GRCm38)	N74S	possibly damaging	Het
Zc2hc1c	T	A	12: 85,290,781 (GRCm38)	M404K	possibly damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26,449,985 (GRCm38)	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26,457,048 (GRCm38)	missense	probably benign
IGL01081:Nlrp4a	APN	7	26,449,829 (GRCm38)	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26,454,067 (GRCm38)	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26,449,969 (GRCm38)	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26,475,097 (GRCm38)	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02193:Nlrp4a	APN	7	26,459,692 (GRCm38)	missense	probably damaging	1.00
IGL02197:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26,449,278 (GRCm38)	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26,449,713 (GRCm38)	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26,459,815 (GRCm38)	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26,449,730 (GRCm38)	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26,449,509 (GRCm38)	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26,464,190 (GRCm38)	missense	probably damaging	1.00
BB002:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
D3080:Nlrp4a	UTSW	7	26,444,341 (GRCm38)	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26,450,372 (GRCm38)	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26,462,516 (GRCm38)	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26,449,232 (GRCm38)	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26,462,620 (GRCm38)	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26,457,130 (GRCm38)	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26,453,467 (GRCm38)	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26,444,435 (GRCm38)	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26,464,197 (GRCm38)	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26,449,651 (GRCm38)	missense	possibly damaging	0.56
R2041:Nlrp4a	UTSW	7	26,450,186 (GRCm38)	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26,450,153 (GRCm38)	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26,453,397 (GRCm38)	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26,449,424 (GRCm38)	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26,449,894 (GRCm38)	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26,464,198 (GRCm38)	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26,449,230 (GRCm38)	splice site	probably null
R3812:Nlrp4a	UTSW	7	26,449,693 (GRCm38)	missense	probably benign
R4114:Nlrp4a	UTSW	7	26,449,940 (GRCm38)	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26,449,518 (GRCm38)	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26,450,229 (GRCm38)	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26,464,108 (GRCm38)	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26,475,090 (GRCm38)	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26,450,808 (GRCm38)	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26,450,419 (GRCm38)	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26,462,480 (GRCm38)	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26,450,492 (GRCm38)	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26,459,811 (GRCm38)	critical splice donor site	probably null
R5441:Nlrp4a	UTSW	7	26,454,153 (GRCm38)	missense	probably damaging	1.00
R5639:Nlrp4a	UTSW	7	26,457,030 (GRCm38)	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26,450,164 (GRCm38)	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26,453,389 (GRCm38)	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26,449,396 (GRCm38)	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26,449,833 (GRCm38)	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26,450,438 (GRCm38)	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26,444,273 (GRCm38)	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26,449,538 (GRCm38)	missense	not run
R7548:Nlrp4a	UTSW	7	26,450,179 (GRCm38)	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26,449,245 (GRCm38)	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26,449,562 (GRCm38)	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26,449,265 (GRCm38)	missense	probably benign	0.01
R7902:Nlrp4a	UTSW	7	26,450,057 (GRCm38)	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26,450,586 (GRCm38)	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26,464,146 (GRCm38)	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26,450,645 (GRCm38)	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26,450,794 (GRCm38)	missense	probably benign
R8477:Nlrp4a	UTSW	7	26,459,794 (GRCm38)	missense	probably benign
R8704:Nlrp4a	UTSW	7	26,457,138 (GRCm38)	missense	probably benign	0.02
R8791:Nlrp4a	UTSW	7	26,444,136 (GRCm38)	splice site	probably benign
R9220:Nlrp4a	UTSW	7	26,450,098 (GRCm38)	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26,459,652 (GRCm38)	missense	probably damaging	0.99
T0975:Nlrp4a	UTSW	7	26,449,637 (GRCm38)	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26,444,342 (GRCm38)	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26,454,163 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGGAAGAGACCCAGTCTCCATTTG -3'
(R):5'- GCAGTGGGCAGCAACAATAACATC -3'

Sequencing Primer
(F):5'- ATGGGATCATGGACTCTGACATC -3'
(R):5'- ATCAGAATAATCCTTAGCCACAAAG -3'

Posted On

2014-05-14