Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Nlrp4e'

354464

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

041986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23321096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 336 (V336E)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076470
AA Change: V336E

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: V336E

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: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,663,150	D286G	probably benign	Het
Abca15	G	A	7: 120,350,775	E491K	probably benign	Het
Acsl5	A	G	19: 55,280,530	T208A	probably benign	Het
Adamts10	T	A	17: 33,545,537		probably null	Het
Ahcyl1	T	C	3: 107,669,917	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,463,423	S145L	possibly damaging	Het
Cep250	A	G	2: 155,970,199	T472A	probably damaging	Het
Copa	T	C	1: 172,104,274		probably benign	Het
Crybg1	C	A	10: 43,997,887	R1075L	probably damaging	Het
Ddr2	T	A	1: 170,005,240	K84*	probably null	Het
Ddx59	C	T	1: 136,417,106	P172S	probably benign	Het
Dhx34	T	A	7: 16,197,382	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 45,207,808	I112F	probably damaging	Het
Dnah8	T	A	17: 30,725,166	C1786S	probably damaging	Het
Eml6	T	A	11: 29,838,525	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,638,776	V192E	probably damaging	Het
Fat3	T	C	9: 16,029,966	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,064,232	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm15446	C	T	5: 109,943,000	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,098,963	N197Y	probably benign	Het
Grid2	G	A	6: 64,666,201	M982I	probably benign	Het
Hey2	G	T	10: 30,834,308	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,772,571		probably null	Het
Ighv3-3	G	A	12: 114,196,536	R85*	probably null	Het
Ighv5-4	A	T	12: 113,597,440		probably benign	Het
Igsf21	A	G	4: 140,107,310	S84P	probably benign	Het
Kif20b	A	G	19: 34,938,373	T517A	probably benign	Het
Krt83	T	C	15: 101,487,982	E244G	probably damaging	Het
Lrp1	T	C	10: 127,555,059	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,715,369		probably null	Het
Lrrc42	A	T	4: 107,233,853	S382T	probably benign	Het
Magi2	C	T	5: 20,534,469	R737W	probably damaging	Het
Mcc	A	G	18: 44,519,556	L267P	probably damaging	Het
Mzf1	T	A	7: 13,043,296	Q727L	possibly damaging	Het
Mzf1	C	T	7: 13,043,521	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015	A21T	probably damaging	Het
Nptn	C	T	9: 58,640,776	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,139,847	I10T	possibly damaging	Het
Olfr1148	T	A	2: 87,833,171	I44N	probably damaging	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr385	C	T	11: 73,589,447	C97Y	probably damaging	Het
Pdzk1	G	T	3: 96,869,202	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,075,420		probably null	Het
Polr3b	T	C	10: 84,656,003	V342A	possibly damaging	Het
Prg3	T	C	2: 84,991,406	V125A	possibly damaging	Het
Raph1	G	A	1: 60,503,001		probably benign	Het
Rassf2	A	G	2: 132,004,438	V133A	probably benign	Het
Rbm22	G	A	18: 60,564,391	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,404,527	S31R	probably benign	Het
Reln	A	G	5: 21,919,222	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,625,052	I141N	probably damaging	Het
Scn7a	C	A	2: 66,684,185	G1082C	probably damaging	Het
Selenon	C	A	4: 134,543,076	E322*	probably null	Het
Sipa1	C	T	19: 5,660,385	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261		probably null	Het
Slc37a4	T	C	9: 44,401,490	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,220,717	I59V	probably benign	Het
Stk19	T	C	17: 34,823,144		probably null	Het
Susd2	C	T	10: 75,638,130	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,931,454	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,104,760	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,091,527	F10S	probably benign	Het
Tmem63c	G	T	12: 87,057,180	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,085,504	C560R	probably damaging	Het
Trav10n	C	T	14: 53,122,133	T7I	probably benign	Het
Ttc38	C	T	15: 85,838,746	R132W	probably benign	Het
Tvp23a	T	C	16: 10,427,411	K108R	probably benign	Het
Vmn1r233	T	C	17: 20,994,617	M24V	probably benign	Het
Vmn1r88	T	A	7: 13,178,524	L269*	probably null	Het
Vmn2r101	T	A	17: 19,612,025	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,718	Q3543*	probably null	Het
Wdr37	T	C	13: 8,854,029	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,900	V214A	probably benign	Het
Zcchc9	A	T	13: 91,800,609		probably null	Het
Zdbf2	A	T	1: 63,308,792	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,957,111	L478R	possibly 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
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
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'- GGAAGATGCTCCCTGAATCC -3'
(R):5'- AACATAAGCCCTGCAGCTGG -3'

Sequencing Primer
(F):5'- GAAGATGCTCCCTGAATCCTCTTTC -3'
(R):5'- ATAAGCCCTGCAGCTGGTCTTG -3'

Posted On

2015-10-21