Mutagenetix > Incidental Mutations

Incidental Mutation 'R5441:Nlrp4a'

427175

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

043006-MU

Accession Numbers

Genbank: NM_172896; MGI: 2443697

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26454153 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 710 (L710M)

Ref Sequence

ENSEMBL: ENSMUSP00000146044 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068767
AA Change: L710M

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

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: L710M

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: L710M

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

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: L710M

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: L710M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	C	T	7: 28,156,914	T2042M	probably damaging	Het
Abca12	A	G	1: 71,295,056	Y1096H	probably damaging	Het
Aspa	A	T	11: 73,305,594	F261I	probably damaging	Het
Atm	C	A	9: 53,516,467	G448*	probably null	Het
Atmin	T	A	8: 116,957,957	D785E	probably damaging	Het
C87414	A	T	5: 93,636,597	M139K	possibly damaging	Het
Car1	G	C	3: 14,776,304	R90G	probably damaging	Het
Cdh11	T	C	8: 102,647,546	D520G	probably benign	Het
Cers5	T	A	15: 99,751,238	K50*	probably null	Het
Chad	A	T	11: 94,568,292	D340V	probably benign	Het
Cspg5	T	C	9: 110,246,643	I68T	probably benign	Het
Fcrla	T	A	1: 170,925,422		probably benign	Het
Fer1l4	T	A	2: 156,023,257	D1608V	probably benign	Het
Fzd5	T	A	1: 64,735,417	Q395L	probably benign	Het
Gm7664	T	A	13: 62,528,650		probably benign	Het
Hk3	T	C	13: 55,015,056	E2G	probably damaging	Het
Hmcn2	G	A	2: 31,406,416	E2677K	possibly damaging	Het
Hydin	T	C	8: 110,565,109	L3411P	possibly damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Lysmd2	C	T	9: 75,625,972	H70Y	possibly damaging	Het
Msi2	A	G	11: 88,479,992		probably benign	Het
Msi2	G	A	11: 88,718,095		probably benign	Het
Napsa	T	A	7: 44,581,393		probably benign	Het
Olfr1025-ps1	T	A	2: 85,918,590	F222I	probably benign	Het
Olfr103	T	C	17: 37,336,268		probably null	Het
Olfr1510	T	A	14: 52,409,957	K305M	probably benign	Het
Olfr459	C	T	6: 41,771,848	M150I	probably benign	Het
Olfr522	T	C	7: 140,162,651	T100A	probably benign	Het
Plbd2	T	A	5: 120,499,082	Y105F	probably benign	Het
Plppr5	A	T	3: 117,662,471	I214F	possibly damaging	Het
Ptcd3	A	G	6: 71,881,521	V655A	possibly damaging	Het
Ptpn14	T	C	1: 189,798,570	L78P	probably damaging	Het
Ralgapa1	A	C	12: 55,719,623	D1295E	probably damaging	Het
Rnf213	G	A	11: 119,409,020	D192N	probably damaging	Het
Ropn1	A	G	16: 34,666,797	I34M	probably damaging	Het
Rpe65	G	T	3: 159,604,401	G104C	probably damaging	Het
Scgb2b27	T	C	7: 34,013,157		probably benign	Het
Sh3bgr	T	C	16: 96,205,917	I29T	possibly damaging	Het
Smg1	T	C	7: 118,195,081		probably benign	Het
Stim2	T	A	5: 54,075,370	C68*	probably null	Het
Syne2	G	A	12: 75,989,143	V3736I	possibly damaging	Het
Tbx19	T	C	1: 165,153,680	N82D	probably damaging	Het
Tdp1	T	A	12: 99,910,285	V353D	probably damaging	Het
Tg	T	A	15: 66,696,520	I1352K	possibly damaging	Het
Thsd4	T	C	9: 59,979,783	T919A	probably damaging	Het
Tmprss11f	A	T	5: 86,528,203	M373K	probably damaging	Het
Tmprss15	T	A	16: 79,071,447		probably null	Het
Tpd52	A	T	3: 9,003,406	Y16*	probably null	Het
Ube2o	G	A	11: 116,544,442	R507C	probably damaging	Het
Unc93b1	T	C	19: 3,943,703	F382L	probably benign	Het
Vav2	A	T	2: 27,270,110		probably benign	Het
Vmn1r207-ps	T	C	13: 22,726,516		noncoding transcript	Het
Zan	T	A	5: 137,436,751	I2127F	unknown	Het
Zfp748	C	A	13: 67,540,618	C841F	probably damaging	Het
Zic4	C	A	9: 91,384,200	P299Q	probably damaging	Het

Other mutations in Nlrp4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Nlrp4a	APN	7	26449985	missense	possibly damaging	0.51
IGL00972:Nlrp4a	APN	7	26457048	missense	probably benign
IGL01081:Nlrp4a	APN	7	26449829	missense	probably benign	0.06
IGL01788:Nlrp4a	APN	7	26454067	missense	probably benign	0.17
IGL02001:Nlrp4a	APN	7	26449969	missense	probably benign	0.01
IGL02070:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02175:Nlrp4a	APN	7	26475097	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26459692	missense	probably damaging	1.00
IGL02193:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02197:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02200:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02202:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02207:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02237:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02240:Nlrp4a	APN	7	26449278	missense	possibly damaging	0.77
IGL02658:Nlrp4a	APN	7	26449713	missense	probably benign	0.43
IGL02743:Nlrp4a	APN	7	26459815	splice site	probably benign
IGL02960:Nlrp4a	APN	7	26449730	missense	probably benign	0.05
IGL03064:Nlrp4a	APN	7	26449509	missense	probably benign	0.23
IGL03276:Nlrp4a	APN	7	26464190	missense	probably damaging	1.00
D3080:Nlrp4a	UTSW	7	26444341	missense	probably benign	0.22
P0019:Nlrp4a	UTSW	7	26449637	missense	probably damaging	1.00
R0020:Nlrp4a	UTSW	7	26450372	missense	probably damaging	1.00
R0240:Nlrp4a	UTSW	7	26462516	missense	probably benign	0.00
R0240:Nlrp4a	UTSW	7	26462516	missense	probably benign	0.00
R0372:Nlrp4a	UTSW	7	26449232	splice site	probably benign
R0466:Nlrp4a	UTSW	7	26462620	splice site	probably benign
R0544:Nlrp4a	UTSW	7	26457130	missense	probably benign	0.00
R1006:Nlrp4a	UTSW	7	26453467	missense	probably benign	0.30
R1072:Nlrp4a	UTSW	7	26444435	missense	probably damaging	1.00
R1432:Nlrp4a	UTSW	7	26464197	frame shift	probably null
R1655:Nlrp4a	UTSW	7	26449651	missense	possibly damaging	0.56
R1696:Nlrp4a	UTSW	7	26450534	missense	probably damaging	1.00
R2041:Nlrp4a	UTSW	7	26450186	missense	probably damaging	0.97
R2091:Nlrp4a	UTSW	7	26450153	missense	probably damaging	1.00
R2163:Nlrp4a	UTSW	7	26453397	missense	probably benign	0.00
R2174:Nlrp4a	UTSW	7	26449424	missense	probably damaging	1.00
R2319:Nlrp4a	UTSW	7	26449894	missense	probably benign	0.10
R2358:Nlrp4a	UTSW	7	26464198	missense	probably benign	0.03
R2680:Nlrp4a	UTSW	7	26449230	intron	probably null
R3812:Nlrp4a	UTSW	7	26449693	missense	probably benign
R4114:Nlrp4a	UTSW	7	26449940	missense	probably damaging	1.00
R4664:Nlrp4a	UTSW	7	26449518	nonsense	probably null
R4676:Nlrp4a	UTSW	7	26450229	missense	probably damaging	1.00
R4708:Nlrp4a	UTSW	7	26464108	missense	probably benign	0.00
R4728:Nlrp4a	UTSW	7	26475090	missense	probably benign	0.24
R4815:Nlrp4a	UTSW	7	26450808	missense	probably benign	0.00
R4831:Nlrp4a	UTSW	7	26450419	missense	possibly damaging	0.92
R5007:Nlrp4a	UTSW	7	26462480	missense	probably damaging	0.99
R5253:Nlrp4a	UTSW	7	26450492	missense	probably benign	0.00
R5262:Nlrp4a	UTSW	7	26459811	critical splice donor site	probably null
R5639:Nlrp4a	UTSW	7	26457030	missense	probably benign	0.02
R5641:Nlrp4a	UTSW	7	26450164	missense	probably damaging	1.00
R5771:Nlrp4a	UTSW	7	26453389	missense	probably damaging	1.00
R6312:Nlrp4a	UTSW	7	26449396	missense	probably benign	0.11
R7131:Nlrp4a	UTSW	7	26449833	missense	probably benign	0.21
R7149:Nlrp4a	UTSW	7	26450438	missense	probably benign	0.00
R7348:Nlrp4a	UTSW	7	26444273	missense	probably damaging	1.00
R7384:Nlrp4a	UTSW	7	26449538	missense	not run
R7548:Nlrp4a	UTSW	7	26450179	missense	probably damaging	1.00
R7566:Nlrp4a	UTSW	7	26449245	critical splice acceptor site	probably null
R7646:Nlrp4a	UTSW	7	26449562	missense	probably damaging	0.96
R7692:Nlrp4a	UTSW	7	26449265	missense	probably benign	0.01
T0975:Nlrp4a	UTSW	7	26449637	missense	probably damaging	1.00
X0022:Nlrp4a	UTSW	7	26444342	missense	probably damaging	0.99
Z1088:Nlrp4a	UTSW	7	26454163	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCCAAAGATAACAGCTCAGGC -3'
(R):5'- GGGGCACTTATACAGGTCAG -3'

Sequencing Primer
(F):5'- CTGGGTGGAAACCAATGGATACC -3'
(R):5'- CAGAATCCTGACCTGTATAAGTGTG -3'

Posted On

2016-09-01