Mutagenetix > Incidental Mutations

Incidental Mutation 'R3767:Nlrp4e'

273052

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

040744-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23340563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 770 (L770F)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably damaging
Transcript: ENSMUST00000076470
AA Change: L770F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: L770F

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	T	A	16: 23,157,188	V134E	possibly damaging	Het
Agmat	A	G	4: 141,755,962	T236A	probably benign	Het
Anxa9	T	C	3: 95,301,114	N197S	probably benign	Het
Arhgap23	A	T	11: 97,476,106	D1071V	probably damaging	Het
Axdnd1	G	A	1: 156,380,858	T470M	probably damaging	Het
C3	C	T	17: 57,205,303	D1542N	possibly damaging	Het
Cdh3	A	T	8: 106,536,974		probably null	Het
Cep85l	A	T	10: 53,291,810	I624K	probably benign	Het
Cplx4	T	C	18: 65,969,927	T41A	probably benign	Het
Dchs1	A	T	7: 105,757,085	D2313E	possibly damaging	Het
Dock7	T	C	4: 98,970,829	T1409A	probably benign	Het
Exo1	C	T	1: 175,886,746	P73L	probably damaging	Het
Fgfrl1	C	A	5: 108,705,376	H197Q	possibly damaging	Het
Fsbp	G	A	4: 11,583,706	G135D	probably damaging	Het
Herc3	G	A	6: 58,862,988	R362H	probably benign	Het
Herc3	T	C	6: 58,876,602	F583L	probably benign	Het
Ifna7	T	C	4: 88,816,727	V167A	probably damaging	Het
Ighv1-54	A	G	12: 115,193,976	V17A	possibly damaging	Het
Kcnh5	A	G	12: 75,087,576	Y400H	possibly damaging	Het
Kcnk16	T	A	14: 20,269,162	M1L	possibly damaging	Het
Kctd19	T	C	8: 105,396,480	T101A	probably benign	Het
Klf3	A	G	5: 64,827,217		probably null	Het
Krtap12-1	G	T	10: 77,720,895	V91L	probably benign	Het
Lonp1	T	C	17: 56,621,952	E270G	possibly damaging	Het
Mgl2	T	C	11: 70,135,833	L128P	probably damaging	Het
Mrc1	A	G	2: 14,319,170	Y1106C	probably damaging	Het
Mybpc1	G	T	10: 88,570,659		probably null	Het
Mypn	C	A	10: 63,125,707	L1035F	possibly damaging	Het
Neurl1a	T	C	19: 47,239,889	L58P	probably damaging	Het
Npas3	A	G	12: 54,069,074	*895W	probably null	Het
Nphs2	T	C	1: 156,313,038	I115T	probably damaging	Het
Olfr1378	A	G	11: 50,969,558	D180G	probably damaging	Het
Olfr936	T	A	9: 39,047,411	H47L	unknown	Het
Patj	A	T	4: 98,681,219	K1128*	probably null	Het
Pla2g5	C	G	4: 138,801,435	C70S	probably damaging	Het
Pole4	G	A	6: 82,622,114	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,904,122	L367F	probably damaging	Het
Ppp1r13b	G	T	12: 111,846,417	R123S	probably damaging	Het
Ptpru	C	T	4: 131,808,424	C414Y	probably damaging	Het
Pum2	T	A	12: 8,719,076	Y323*	probably null	Het
Rhot2	T	C	17: 25,840,547	D407G	probably benign	Het
Rreb1	C	T	13: 37,929,603	R313W	possibly damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Scn11a	T	A	9: 119,784,049	D825V	probably damaging	Het
Selenoi	A	G	5: 30,256,189	Y141C	probably damaging	Het
Smcr8	A	G	11: 60,779,504	T493A	probably benign	Het
Tjp2	A	T	19: 24,100,826	I901N	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttc23l	T	A	15: 10,530,695	Y277F	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Wdr1	C	T	5: 38,540,539	G228R	probably damaging	Het
Xab2	T	C	8: 3,619,053	N31S	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
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
R9219:Nlrp4e	UTSW	7	23321516	missense	possibly damaging	0.50
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
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'- CTCAAACCTTCATGGGAATAGCAAG -3'
(R):5'- CTTGAGCTCTAAGACCCACC -3'

Sequencing Primer
(F):5'- TTCATGGGAATAGCAAGGAAAAATTG -3'
(R):5'- GAGCTCTAAGACCCACCTATCTTC -3'

Posted On

2015-03-25