Mutagenetix > Incidental Mutation

Incidental Mutation 'R5639:Nlrp4a'

440541

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

043288-MU

Accession Numbers

Genbank: NM_172896; MGI: 2443697

Is this an essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26435113-26476142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26457030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 727 (A727T)

Ref Sequence

ENSEMBL: ENSMUSP00000112441 (fasta)

Gene Model

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

AlphaFold

Q8BU40

Predicted Effect

probably benign
Transcript: ENSMUST00000068767
AA Change: A727T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: A727T

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 benign
Transcript: ENSMUST00000119386
AA Change: A727T

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: A727T

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

probably benign
Transcript: ENSMUST00000146907
AA Change: A727T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	T	C	8: 111,043,234	Y322H	probably benign	Het
Aldh1a1	C	A	19: 20,623,422	T201K	probably damaging	Het
Ankrd26	T	C	6: 118,539,724	E493G	possibly damaging	Het
Armc8	A	G	9: 99,496,149		probably null	Het
Bicc1	A	T	10: 70,940,520	V701E	probably damaging	Het
Car11	T	A	7: 45,702,621		probably null	Het
Celsr1	C	G	15: 86,030,767	V1002L	probably damaging	Het
Clpx	T	A	9: 65,329,830	S597T	probably benign	Het
Cyr61	A	C	3: 145,648,697	V153G	probably damaging	Het
Dmpk	A	G	7: 19,092,600	M545V	probably benign	Het
Dnah7c	C	G	1: 46,739,668	D3139E	probably benign	Het
Drd5	T	A	5: 38,319,835	V57D	possibly damaging	Het
Epc2	A	G	2: 49,451,891	N29S	possibly damaging	Het
Ercc3	T	C	18: 32,265,714	V682A	probably damaging	Het
Fam186a	T	C	15: 99,947,050	K438E	unknown	Het
Farp1	T	A	14: 121,275,382	I764N	probably damaging	Het
Flvcr2	A	T	12: 85,747,476	I209F	probably benign	Het
Fndc3b	C	T	3: 27,426,153	V1065M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gp6	C	A	7: 4,394,131	D102Y	probably damaging	Het
Gpc5	T	C	14: 115,092,747	L114P	probably benign	Het
Kcnq3	T	A	15: 65,997,750	E613V	probably damaging	Het
Krt74	T	G	15: 101,756,760		noncoding transcript	Het
Lipe	T	C	7: 25,383,325	T801A	probably benign	Het
Lman1l	A	T	9: 57,611,866	F266I	probably benign	Het
Lrp1	A	G	10: 127,593,839	V454A	probably damaging	Het
Lsm14a	T	C	7: 34,353,510	D338G	probably damaging	Het
Mctp1	T	C	13: 77,024,783		silent	Het
Mgea5	A	G	19: 45,776,999	I123T	probably damaging	Het
Nrgn	T	C	9: 37,546,048	S48G	probably benign	Het
Olfr1246	T	C	2: 89,590,725	Y130C	probably damaging	Het
Olfr370	T	C	8: 83,541,344	S67P	probably damaging	Het
Olfr564	A	G	7: 102,803,993	S172G	probably benign	Het
Pdia6	A	G	12: 17,278,593	E183G	probably benign	Het
Pign	T	A	1: 105,589,315	I529F	probably benign	Het
Plscr5	A	T	9: 92,205,511	K178*	probably null	Het
Samm50	T	G	15: 84,214,128	I456S	probably benign	Het
Sesn1	A	G	10: 41,811,271	R84G	probably benign	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Spag17	G	T	3: 100,056,166	D1067Y	probably damaging	Het
Sptan1	C	T	2: 29,990,993	Q425*	probably null	Het
Srrm4	T	A	5: 116,591,359	I36F	unknown	Het
Tas1r2	A	T	4: 139,659,796	S189C	probably damaging	Het
Tep1	A	G	14: 50,853,605	V690A	possibly damaging	Het
Trmo	T	C	4: 46,382,073	K348R	probably benign	Het
Trmu	T	A	15: 85,882,698	M36K	probably damaging	Het
Ubr4	A	G	4: 139,452,648	T3380A	possibly damaging	Het
Unc79	A	C	12: 103,171,572	T2425P	probably damaging	Het
Vmn2r12	G	A	5: 109,092,800	T149I	probably benign	Het
Vwa3a	A	C	7: 120,790,143	K68T	probably damaging	Het
Yif1a	T	C	19: 5,088,750		probably null	Het
Zbtb44	A	T	9: 31,054,052	T253S	probably damaging	Het
Zdhhc3	T	C	9: 123,100,345	Y75C	probably damaging	Het
Zfp189	T	A	4: 49,530,153	F419I	probably benign	Het
Zfp663	T	C	2: 165,353,009	D430G	probably benign	Het
Zfp709	T	G	8: 71,889,991		probably null	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
BB002:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
BB012:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
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	splice site	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
R5441:Nlrp4a	UTSW	7	26454153	missense	probably damaging	1.00
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
R7902:Nlrp4a	UTSW	7	26450057	missense	possibly damaging	0.65
R7925:Nlrp4a	UTSW	7	26450586	missense	probably benign	0.10
R7937:Nlrp4a	UTSW	7	26464146	missense	probably benign	0.00
R7992:Nlrp4a	UTSW	7	26450645	missense	possibly damaging	0.51
R8205:Nlrp4a	UTSW	7	26450794	missense	probably benign
R8477:Nlrp4a	UTSW	7	26459794	missense	probably benign
R8704:Nlrp4a	UTSW	7	26457138	missense	probably benign	0.02
R8791:Nlrp4a	UTSW	7	26444136	splice site	probably benign
R9220:Nlrp4a	UTSW	7	26450098	missense	probably damaging	0.97
R9332:Nlrp4a	UTSW	7	26459652	missense	probably damaging	0.99
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'- GCATTCCATTTCAGCAAGCTTAAAC -3'
(R):5'- CACAGTCTCTACAGTGTACCCC -3'

Sequencing Primer
(F):5'- CATTGCTCAGAGGGTTATAAGCACC -3'
(R):5'- CCTCCCAAGGCTACTTACACTAAGTG -3'

Posted On

2016-11-08