Mutagenetix > Incidental Mutations

Incidental Mutation 'R5277:Nlrp4e'

403998

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

042864-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23301192-23362277 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23321438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 450 (L450P)

Ref Sequence

ENSEMBL: ENSMUSP00000075794 (fasta)

Gene Model

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

AlphaFold

Q66X19

Predicted Effect

probably benign
Transcript: ENSMUST00000076470
AA Change: L450P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: L450P

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

Meta Mutation Damage Score

0.2112

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,994,648	T54A	probably damaging	Het
Ablim1	T	C	19: 57,155,261	R89G	probably damaging	Het
Bco1	T	A	8: 117,117,389		probably null	Het
Bhmt	A	T	13: 93,624,885	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,684,741		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Dcaf6	A	G	1: 165,424,346	S70P	probably benign	Het
Dclre1a	C	T	19: 56,544,732	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,828,137	P4021L	probably damaging	Het
Dusp10	A	G	1: 184,037,007	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,462,190	R374C	probably benign	Het
Fyb2	G	A	4: 105,015,679	D686N	probably damaging	Het
Glra3	G	A	8: 55,991,207	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,247,140		noncoding transcript	Het
Grin2c	A	G	11: 115,253,813	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,145,927		noncoding transcript	Het
Mc3r	T	C	2: 172,249,787	F310L	probably damaging	Het
Myh4	A	G	11: 67,252,354	D1036G	probably damaging	Het
Myh6	A	G	14: 54,956,562	I790T	probably benign	Het
Myo15	C	A	11: 60,477,114	Y233*	probably null	Het
Nckap5	A	T	1: 126,026,540	C758*	probably null	Het
Neurog3	T	A	10: 62,133,853	Y36N	probably damaging	Het
Olfr607	A	T	7: 103,460,941	L84H	probably damaging	Het
Otog	A	G	7: 46,246,621	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,741,142	T41K	probably damaging	Het
Prmt5	A	T	14: 54,509,942	D459E	probably benign	Het
Ric8b	G	A	10: 84,947,652	V125M	probably damaging	Het
Rptor	A	G	11: 119,822,956	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,098,434	E371D	probably benign	Het
Scaf11	A	T	15: 96,419,226	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,276,544		probably benign	Het
Snx29	C	T	16: 11,399,824	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,276,164	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,673,192		probably null	Het
Tmem63c	T	A	12: 87,057,757		probably null	Het
Tmem69	A	G	4: 116,553,261	F171L	probably benign	Het
Urod	A	T	4: 116,990,285		probably benign	Het
Vmn1r37	A	T	6: 66,731,476	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,694,131	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 86,166,292	S121R	probably benign	Het
Vwde	T	C	6: 13,186,996	T831A	probably benign	Het
Wdr70	C	T	15: 7,976,984	W362*	probably null	Het
Zfat	A	G	15: 68,165,909	C906R	probably damaging	Het
Zfp7	T	C	15: 76,881,203	V32A	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
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'- GCTGCAGGGCTTATGTTCTC -3'
(R):5'- GCCATCTATCTGTTCTTGAAGC -3'

Sequencing Primer
(F):5'- TCTCTGGCTGCTGAGGGC -3'
(R):5'- AGGCACTGATACAACTGACG -3'

Posted On

2016-07-22