Mutagenetix > Incidental Mutation

Incidental Mutation 'R2904:Nlrp4b'

261579

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4b

Ensembl Gene

ENSMUSG00000034087

Gene Name

NLR family, pyrin domain containing 4B

Synonyms

Nalp4b, Nalp-gamma

MMRRC Submission

040491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10421720-10464095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10448294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 166 (W166R)

Ref Sequence

ENSEMBL: ENSMUSP00000113095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047809] [ENSMUST00000117413] [ENSMUST00000132990] [ENSMUST00000211069]

AlphaFold

Q8C6J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000047809
AA Change: W166R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: W166R

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.4e-20	SMART
Pfam:NACHT	143	312	7.9e-40	PFAM
low complexity region	520	535	N/A	INTRINSIC
LRR	683	710	4.9e0	SMART
LRR	712	739	1.97e0	SMART
LRR	740	767	1.13e-4	SMART
LRR	769	796	1.93e1	SMART
LRR	797	824	1.73e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117413
AA Change: W166R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: W166R

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.4e-20	SMART
Pfam:NACHT	143	312	3.3e-39	PFAM
low complexity region	520	535	N/A	INTRINSIC
LRR	683	710	4.9e0	SMART
LRR	712	739	1.97e0	SMART
LRR	740	767	1.13e-4	SMART
LRR	769	796	1.93e1	SMART
LRR	797	824	1.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132990

SMART Domains

Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087

Domain	Start	End	E-Value	Type
low complexity region	153	168	N/A	INTRINSIC
LRR	316	343	4.9e0	SMART
LRR	345	372	1.97e0	SMART
LRR	373	400	1.13e-4	SMART
LRR	402	429	1.93e1	SMART
LRR	430	457	1.73e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211069

Predicted Effect

probably benign
Transcript: ENSMUST00000211258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211772

Meta Mutation Damage Score

0.8627

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	T	C	5: 100,957,673 (GRCm39)	E182G	probably benign	Het
Acot4	C	G	12: 84,090,377 (GRCm39)	T358S	probably benign	Het
Ap2a2	A	G	7: 141,199,391 (GRCm39)	K433E	probably damaging	Het
Card11	T	A	5: 140,874,888 (GRCm39)	D592V	probably benign	Het
Col12a1	G	T	9: 79,559,307 (GRCm39)	S1860R	probably damaging	Het
Crisp1	C	T	17: 40,623,895 (GRCm39)		probably null	Het
Dzip1l	A	G	9: 99,545,722 (GRCm39)	E657G	probably damaging	Het
Gak	T	C	5: 108,772,080 (GRCm39)	N79S	possibly damaging	Het
Gm9791	T	C	3: 34,059,336 (GRCm39)		noncoding transcript	Het
Gmpr2	T	C	14: 55,910,215 (GRCm39)	V15A	probably damaging	Het
Hectd4	T	C	5: 121,430,787 (GRCm39)		probably benign	Het
Ift56	T	C	6: 38,378,037 (GRCm39)	V283A	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdm4b	G	A	17: 56,662,884 (GRCm39)	G152S	probably benign	Het
Kdm6b	G	A	11: 69,296,611 (GRCm39)	T552I	possibly damaging	Het
Kdr	T	C	5: 76,127,069 (GRCm39)	Y307C	probably damaging	Het
Kif11	T	C	19: 37,392,103 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Madd	C	T	2: 91,006,017 (GRCm39)	V20M	probably damaging	Het
Mkrn3	C	A	7: 62,068,207 (GRCm39)	R528L	probably benign	Het
Myom2	T	C	8: 15,148,348 (GRCm39)	V508A	probably benign	Het
Nav1	T	C	1: 135,512,976 (GRCm39)	D28G	probably benign	Het
Or14j2	A	T	17: 37,885,705 (GRCm39)	L203Q	possibly damaging	Het
Or5p59	T	C	7: 107,702,806 (GRCm39)	Y97H	probably benign	Het
Rassf10	A	T	7: 112,553,756 (GRCm39)	D119V	possibly damaging	Het
Smarcc1	A	G	9: 110,003,043 (GRCm39)	N378D	possibly damaging	Het
Tas2r118	A	G	6: 23,969,801 (GRCm39)	F87L	possibly damaging	Het
Tasor2	T	C	13: 3,632,185 (GRCm39)	N772S	possibly damaging	Het
Trim21	A	G	7: 102,209,178 (GRCm39)	W282R	probably benign	Het
Uggt2	T	A	14: 119,296,521 (GRCm39)	Y447F	possibly damaging	Het
Zfp160	G	A	17: 21,245,911 (GRCm39)	V154I	probably benign	Het

Other mutations in Nlrp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Nlrp4b	APN	7	10,448,882 (GRCm39)	missense	possibly damaging	0.68
IGL01456:Nlrp4b	APN	7	10,448,150 (GRCm39)	missense	probably benign	0.26
IGL01537:Nlrp4b	APN	7	10,448,918 (GRCm39)	missense	probably damaging	1.00
IGL02539:Nlrp4b	APN	7	10,448,355 (GRCm39)	missense	probably damaging	0.96
IGL02730:Nlrp4b	APN	7	10,448,685 (GRCm39)	missense	probably damaging	1.00
IGL02871:Nlrp4b	APN	7	10,449,192 (GRCm39)	missense	probably benign	0.26
IGL03008:Nlrp4b	APN	7	10,448,516 (GRCm39)	missense	probably benign	0.00
IGL03109:Nlrp4b	APN	7	10,448,873 (GRCm39)	missense	probably damaging	1.00
IGL03251:Nlrp4b	APN	7	10,448,427 (GRCm39)	missense	probably benign	0.01
IGL03354:Nlrp4b	APN	7	10,448,465 (GRCm39)	missense	probably damaging	0.99
R0052:Nlrp4b	UTSW	7	10,459,889 (GRCm39)	nonsense	probably null
R0348:Nlrp4b	UTSW	7	10,449,108 (GRCm39)	missense	possibly damaging	0.60
R0564:Nlrp4b	UTSW	7	10,448,585 (GRCm39)	missense	probably benign	0.15
R0573:Nlrp4b	UTSW	7	10,448,142 (GRCm39)	missense	probably benign	0.01
R0581:Nlrp4b	UTSW	7	10,448,457 (GRCm39)	missense	probably damaging	1.00
R1201:Nlrp4b	UTSW	7	10,449,363 (GRCm39)	missense	possibly damaging	0.64
R1541:Nlrp4b	UTSW	7	10,458,979 (GRCm39)	missense	possibly damaging	0.91
R1771:Nlrp4b	UTSW	7	10,452,520 (GRCm39)	missense	probably damaging	0.96
R1781:Nlrp4b	UTSW	7	10,449,266 (GRCm39)	missense	probably benign	0.13
R1833:Nlrp4b	UTSW	7	10,459,863 (GRCm39)	missense	probably benign	0.00
R2405:Nlrp4b	UTSW	7	10,448,655 (GRCm39)	missense	probably benign	0.08
R2871:Nlrp4b	UTSW	7	10,444,170 (GRCm39)	nonsense	probably null
R2871:Nlrp4b	UTSW	7	10,444,170 (GRCm39)	nonsense	probably null
R2873:Nlrp4b	UTSW	7	10,444,170 (GRCm39)	nonsense	probably null
R3410:Nlrp4b	UTSW	7	10,449,456 (GRCm39)	missense	probably damaging	1.00
R3714:Nlrp4b	UTSW	7	10,448,808 (GRCm39)	missense	probably benign	0.04
R3982:Nlrp4b	UTSW	7	10,448,358 (GRCm39)	missense	possibly damaging	0.95
R4668:Nlrp4b	UTSW	7	10,448,660 (GRCm39)	missense	possibly damaging	0.66
R4690:Nlrp4b	UTSW	7	10,453,130 (GRCm39)	missense	probably benign	0.00
R4857:Nlrp4b	UTSW	7	10,449,225 (GRCm39)	missense	probably benign	0.05
R5247:Nlrp4b	UTSW	7	10,448,145 (GRCm39)	missense	probably benign	0.21
R5381:Nlrp4b	UTSW	7	10,449,172 (GRCm39)	nonsense	probably null
R5529:Nlrp4b	UTSW	7	10,448,873 (GRCm39)	missense	possibly damaging	0.91
R5589:Nlrp4b	UTSW	7	10,449,512 (GRCm39)	missense	probably benign	0.34
R5770:Nlrp4b	UTSW	7	10,449,414 (GRCm39)	missense	probably benign	0.00
R5990:Nlrp4b	UTSW	7	10,448,418 (GRCm39)	missense	possibly damaging	0.61
R6049:Nlrp4b	UTSW	7	10,448,640 (GRCm39)	nonsense	probably null
R6329:Nlrp4b	UTSW	7	10,458,847 (GRCm39)	missense	probably benign	0.16
R6377:Nlrp4b	UTSW	7	10,449,339 (GRCm39)	missense	probably benign	0.00
R7107:Nlrp4b	UTSW	7	10,449,144 (GRCm39)	missense	probably damaging	0.96
R7209:Nlrp4b	UTSW	7	10,444,297 (GRCm39)	missense	probably benign	0.01
R7237:Nlrp4b	UTSW	7	10,449,143 (GRCm39)	missense	probably benign	0.12
R7537:Nlrp4b	UTSW	7	10,448,816 (GRCm39)	missense	probably benign	0.05
R7793:Nlrp4b	UTSW	7	10,459,001 (GRCm39)	missense	probably benign	0.00
R8138:Nlrp4b	UTSW	7	10,449,458 (GRCm39)	missense	probably benign	0.01
R8190:Nlrp4b	UTSW	7	10,448,319 (GRCm39)	missense	probably damaging	0.96
R8326:Nlrp4b	UTSW	7	10,452,471 (GRCm39)	missense	probably benign	0.05
R8353:Nlrp4b	UTSW	7	10,449,528 (GRCm39)	missense	probably damaging	0.99
R8417:Nlrp4b	UTSW	7	10,459,880 (GRCm39)	nonsense	probably null
R8453:Nlrp4b	UTSW	7	10,449,528 (GRCm39)	missense	probably damaging	0.99
R8998:Nlrp4b	UTSW	7	10,449,629 (GRCm39)	missense	probably null	0.00
R9002:Nlrp4b	UTSW	7	10,448,886 (GRCm39)	missense	probably damaging	1.00
R9072:Nlrp4b	UTSW	7	10,459,870 (GRCm39)	missense	probably benign	0.02
R9073:Nlrp4b	UTSW	7	10,459,870 (GRCm39)	missense	probably benign	0.02
R9258:Nlrp4b	UTSW	7	10,444,087 (GRCm39)	missense	probably damaging	1.00
R9373:Nlrp4b	UTSW	7	10,449,126 (GRCm39)	missense	probably benign	0.01
R9525:Nlrp4b	UTSW	7	10,448,748 (GRCm39)	missense	probably damaging	0.99
R9604:Nlrp4b	UTSW	7	10,444,295 (GRCm39)	missense	probably benign	0.00
R9670:Nlrp4b	UTSW	7	10,448,651 (GRCm39)	missense	probably benign	0.11
R9679:Nlrp4b	UTSW	7	10,449,184 (GRCm39)	missense	probably benign	0.00
X0063:Nlrp4b	UTSW	7	10,463,514 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTAAAGGAGAAGCTGACCCATG -3'
(R):5'- GGGTAACATTCCATTCCATCCC -3'

Sequencing Primer
(F):5'- GAGAAGCTGACCCATGATTGTTC -3'
(R):5'- ATCCCTTCTAAGCTGTCAATGATG -3'

Posted On

2015-01-23