Mutagenetix > Incidental Mutation

Incidental Mutation 'R9219:Nlrp4e'

699364

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4e

Ensembl Gene

ENSMUSG00000045693

Gene Name

NLR family, pyrin domain containing 4E

Synonyms

4930406H16Rik, Nalp4e, Nalp-epsilon

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9219 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23321516 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 476 (V476A)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076470]

AlphaFold

Q66X19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076470
AA Change: V476A

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: V476A

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.43e-35	SMART
Pfam:NACHT	148	317	1.3e-39	PFAM
LRR	689	716	1.87e1	SMART
LRR	718	745	7.74e0	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	2.67e1	SMART
LRR	802	829	6.48e-1	SMART
LRR	831	858	2.03e0	SMART
LRR	859	886	2.88e-6	SMART
LRR	888	915	9.41e0	SMART
LRR	916	943	1.02e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx1	A	T	10: 103,022,260	Y193N	probably damaging	Het
Cmtm2a	A	G	8: 104,281,469	F116S	probably damaging	Het
Dennd4a	A	T	9: 64,889,094	M801L	probably damaging	Het
Disp3	A	G	4: 148,249,860	V992A	possibly damaging	Het
Dopey2	C	A	16: 93,770,296	R1322S	probably damaging	Het
Dusp7	T	C	9: 106,371,013	V280A	probably damaging	Het
Fam208a	T	A	14: 27,464,387	Y848N	possibly damaging	Het
Flg	A	G	3: 93,291,099	E245G	possibly damaging	Het
Garnl3	A	G	2: 33,085,886	S68P	probably damaging	Het
Gm11639	A	C	11: 104,945,865	S3560R	unknown	Het
Gm13084	G	A	4: 143,810,733	R343C	probably benign	Het
Gm4858	A	G	3: 93,074,224	D109G	probably damaging	Het
Grin1	T	C	2: 25,297,666	T582A	possibly damaging	Het
Hectd1	A	G	12: 51,753,829	C2069R	probably damaging	Het
Herc3	T	A	6: 58,894,567	I867K	probably benign	Het
Hmcn1	A	T	1: 150,719,093		probably null	Het
Igkv4-54	T	A	6: 69,631,705	M77L	probably benign	Het
Kcnmb4	G	C	10: 116,473,467	R19G	probably damaging	Het
Lamb3	A	G	1: 193,327,924	T282A	probably damaging	Het
Lrrc58	T	A	16: 37,868,818	L108Q	probably damaging	Het
Macf1	C	A	4: 123,407,761	A983S	possibly damaging	Het
Mcf2l	A	T	8: 13,011,383	N794I	probably damaging	Het
Mroh3	A	G	1: 136,191,639	F469L	probably benign	Het
Muc5ac	T	A	7: 141,817,063	C3244*	probably null	Het
Myo16	G	T	8: 10,442,236	R726L	unknown	Het
Naaa	A	G	5: 92,278,005	V43A	probably damaging	Het
Naip2	A	G	13: 100,160,705	V941A	probably benign	Het
Nbea	AC	A	3: 56,090,972		probably null	Het
Olfr382	A	C	11: 73,516,975	S75A	probably damaging	Het
Pcdh20	T	G	14: 88,468,819	R348S	probably benign	Het
Pom121l12	C	A	11: 14,599,809	P172T	probably damaging	Het
Prkd3	A	G	17: 78,966,199	S543P	probably benign	Het
Ptpn13	A	G	5: 103,597,766	Q2446R	probably benign	Het
Qrich2	A	C	11: 116,445,074	S345A	possibly damaging	Het
Ryr3	T	C	2: 112,912,239	E498G	possibly damaging	Het
Sh3d19	A	G	3: 86,123,200	T675A	possibly damaging	Het
Ubl3	T	C	5: 148,506,460	E96G	probably damaging	Het
Zfp780b	T	C	7: 27,964,381	T250A	probably benign	Het
Zfp871	A	T	17: 32,774,940	N420K	probably benign	Het
Zfp949	C	T	9: 88,569,670	T431M	probably damaging	Het

Other mutations in Nlrp4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00704:Nlrp4e	APN	7	23343140	missense	probably damaging	1.00
IGL00833:Nlrp4e	APN	7	23340471	missense	probably benign	0.00
IGL01017:Nlrp4e	APN	7	23321667	missense	possibly damaging	0.93
IGL01025:Nlrp4e	APN	7	23353161	splice site	probably benign
IGL01815:Nlrp4e	APN	7	23321438	missense	probably benign	0.02
IGL01924:Nlrp4e	APN	7	23320830	nonsense	probably null
IGL02245:Nlrp4e	APN	7	23320875	missense	probably damaging	1.00
IGL02745:Nlrp4e	APN	7	23321291	missense	probably damaging	1.00
IGL02746:Nlrp4e	APN	7	23321839	missense	probably benign	0.00
IGL02987:Nlrp4e	APN	7	23301433	missense	probably damaging	1.00
IGL02997:Nlrp4e	APN	7	23301374	missense	probably benign	0.04
IGL03193:Nlrp4e	APN	7	23320826	missense	probably damaging	1.00
IGL03304:Nlrp4e	APN	7	23353343	critical splice donor site	probably null
IGL03352:Nlrp4e	APN	7	23320826	missense	probably damaging	1.00
R0389:Nlrp4e	UTSW	7	23355203	missense	probably damaging	0.98
R1028:Nlrp4e	UTSW	7	23321744	missense	probably damaging	1.00
R1163:Nlrp4e	UTSW	7	23320972	missense	probably benign	0.03
R1269:Nlrp4e	UTSW	7	23353338	missense	possibly damaging	0.95
R1400:Nlrp4e	UTSW	7	23321660	missense	possibly damaging	0.93
R1497:Nlrp4e	UTSW	7	23320372	missense	probably benign	0.00
R1518:Nlrp4e	UTSW	7	23321843	missense	probably benign	0.33
R1716:Nlrp4e	UTSW	7	23321033	missense	possibly damaging	0.56
R1727:Nlrp4e	UTSW	7	23320995	missense	probably benign	0.01
R1998:Nlrp4e	UTSW	7	23321246	missense	probably benign	0.00
R2177:Nlrp4e	UTSW	7	23355261	missense	probably benign	0.00
R3724:Nlrp4e	UTSW	7	23321377	missense	probably benign	0.28
R3767:Nlrp4e	UTSW	7	23340563	missense	probably damaging	1.00
R3795:Nlrp4e	UTSW	7	23320803	missense	probably benign	0.35
R4387:Nlrp4e	UTSW	7	23301477	missense	probably benign	0.00
R4387:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4388:Nlrp4e	UTSW	7	23301477	missense	probably benign	0.00
R4388:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4389:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4403:Nlrp4e	UTSW	7	23321463	nonsense	probably null
R4444:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4486:Nlrp4e	UTSW	7	23321227	missense	probably benign	0.01
R4547:Nlrp4e	UTSW	7	23336866	missense	probably benign	0.00
R4553:Nlrp4e	UTSW	7	23320979	missense	probably benign
R4666:Nlrp4e	UTSW	7	23336780	nonsense	probably null
R4721:Nlrp4e	UTSW	7	23321096	missense	possibly damaging	0.84
R4728:Nlrp4e	UTSW	7	23321564	missense	probably benign
R4758:Nlrp4e	UTSW	7	23320618	missense	probably benign	0.17
R4775:Nlrp4e	UTSW	7	23343100	missense	probably benign	0.14
R4830:Nlrp4e	UTSW	7	23336740	missense	probably benign	0.03
R4954:Nlrp4e	UTSW	7	23361893	nonsense	probably null
R5277:Nlrp4e	UTSW	7	23321438	missense	probably benign	0.02
R5352:Nlrp4e	UTSW	7	23353173	missense	probably benign	0.26
R5521:Nlrp4e	UTSW	7	23321765	missense	probably benign	0.00
R5528:Nlrp4e	UTSW	7	23336891	missense	probably benign	0.07
R5537:Nlrp4e	UTSW	7	23320489	missense	probably benign	0.00
R5584:Nlrp4e	UTSW	7	23321177	missense	probably benign
R5683:Nlrp4e	UTSW	7	23353272	missense	probably damaging	0.99
R6160:Nlrp4e	UTSW	7	23321306	missense	probably damaging	0.99
R6313:Nlrp4e	UTSW	7	23353172	missense	probably benign
R6427:Nlrp4e	UTSW	7	23320633	missense	possibly damaging	0.48
R6647:Nlrp4e	UTSW	7	23321315	missense	probably benign	0.00
R6929:Nlrp4e	UTSW	7	23336731	critical splice acceptor site	probably null
R7307:Nlrp4e	UTSW	7	23321528	missense	probably benign	0.07
R7792:Nlrp4e	UTSW	7	23321757	missense	possibly damaging	0.60
R8169:Nlrp4e	UTSW	7	23320506	missense	probably benign	0.06
R8445:Nlrp4e	UTSW	7	23340540	missense	probably benign	0.00
R8487:Nlrp4e	UTSW	7	23321558	missense	probably benign	0.00
R8906:Nlrp4e	UTSW	7	23321131	missense	possibly damaging	0.88
R9124:Nlrp4e	UTSW	7	23320978	missense	probably benign
R9167:Nlrp4e	UTSW	7	23340526	missense	probably benign	0.00
R9181:Nlrp4e	UTSW	7	23361845	nonsense	probably null
R9229:Nlrp4e	UTSW	7	23321374	missense	probably benign	0.00
R9321:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9323:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9325:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9379:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9380:Nlrp4e	UTSW	7	23321330	missense	probably benign
R9448:Nlrp4e	UTSW	7	23301531	missense	probably benign
R9523:Nlrp4e	UTSW	7	23355211	missense	probably benign	0.00
R9593:Nlrp4e	UTSW	7	23320772	missense	probably benign	0.19
X0022:Nlrp4e	UTSW	7	23343119	missense	probably damaging	1.00
X0025:Nlrp4e	UTSW	7	23343178	missense	possibly damaging	0.91
X0026:Nlrp4e	UTSW	7	23355223	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GCTCTCAGGAGAAATGGGATC -3'
(R):5'- ACAGCTTCATGCCATCTATCTG -3'

Sequencing Primer
(F):5'- GGGATCATGGACTCTGATATCTCCAC -3'
(R):5'- CCACTTATGGTTTCCAGGCAC -3'

Posted On

2022-02-07