Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Nlrp4b'

685022

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4b

Ensembl Gene

ENSMUSG00000034087

Gene Name

NLR family, pyrin domain containing 4B

Synonyms

Nalp4b, Nalp-gamma

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10687789-10730168 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10714959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 363 (T363I)

Ref Sequence

ENSEMBL: ENSMUSP00000043881 (fasta)

Gene Model

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

AlphaFold

Q8C6J9

Predicted Effect

probably damaging
Transcript: ENSMUST00000047809
AA Change: T363I

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

SMART Domains

Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: T363I

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: T363I

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

SMART Domains

Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: T363I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,291,926	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,952,630	D985N	probably benign	Het
Ak5	A	T	3: 152,653,454	M207K	probably damaging	Het
Akt1	T	C	12: 112,659,614	I75V	probably benign	Het
Ank	T	A	15: 27,544,327	L58*	probably null	Het
Ap1g1	A	C	8: 109,855,106	T666P	probably benign	Het
Ap3b2	A	T	7: 81,467,444	S615T	probably benign	Het
Ash1l	G	T	3: 88,981,408	R198L	probably benign	Het
Axl	A	T	7: 25,778,678	C199S	probably damaging	Het
C1d	T	C	11: 17,262,787	L44S	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Col4a4	A	G	1: 82,471,311	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,996,192	I223N	probably damaging	Het
Eml1	T	A	12: 108,538,179	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,690,592	T282I	probably damaging	Het
Fmo2	A	T	1: 162,878,078	C397*	probably null	Het
Gbp10	C	A	5: 105,221,981	V262L	probably benign	Het
Gm11639	A	T	11: 105,029,996	D4671V	probably damaging	Het
Gm45871	A	T	18: 90,591,844	H402L	probably damaging	Het
Has1	T	C	17: 17,843,650	S576G	unknown	Het
Hat1	C	T	2: 71,441,303	R407W	probably damaging	Het
Hivep2	G	T	10: 14,132,413	R1585L	probably benign	Het
Ifi211	A	G	1: 173,906,328	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Irf9	T	A	14: 55,607,683	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,582,258	V68I	probably benign	Het
Kif1b	T	G	4: 149,191,255	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,576,227	C410Y	probably benign	Het
Klk1b16	T	C	7: 44,140,765	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,927,795	S1222F	possibly damaging	Het
Lama5	A	G	2: 180,196,518	C855R	probably damaging	Het
Mast3	A	G	8: 70,781,260	L947P	probably damaging	Het
Mblac2	C	A	13: 81,711,953	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,225,854	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,217,019	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590	L982P	probably damaging	Het
Nol10	A	G	12: 17,358,133	E120G	probably damaging	Het
Olfml1	T	C	7: 107,590,216	S163P	probably damaging	Het
Olfr1104	T	C	2: 87,021,897	T216A	probably benign	Het
Olfr135	A	T	17: 38,208,664	N140Y	probably benign	Het
Olfr522	T	C	7: 140,162,285	I222V	probably damaging	Het
Olfr576	A	T	7: 102,965,411	I104F	probably damaging	Het
Olfr902	T	A	9: 38,448,875	M1K	probably null	Het
Pde6a	T	A	18: 61,285,989	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,918,259	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,299,453	L1368P		Het
Ppie	T	C	4: 123,130,551	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,788,292	H657R	probably benign	Het
Sarnp	T	A	10: 128,821,973		probably null	Het
Serpinb9c	T	C	13: 33,150,346	T266A	probably damaging	Het
Srgap3	T	A	6: 112,780,893	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882	W717L	probably benign	Het
Tgfbi	A	G	13: 56,623,589	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,770,482	F624Y	probably damaging	Het
Tnni2	A	G	7: 142,444,276	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,505,456	S316P	probably benign	Het
Tshr	C	A	12: 91,537,774	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,593,259	A317E	probably damaging	Het
Usp24	T	C	4: 106,418,215	V2229A	possibly damaging	Het
Usp32	G	A	11: 85,053,951	R304C	probably damaging	Het
Usp40	C	T	1: 88,007,341	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,747,127	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,858,076	K676M	probably benign	Het
Vnn1	A	G	10: 23,899,451	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,325,241	L698P	possibly damaging	Het

Other mutations in Nlrp4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Nlrp4b	APN	7	10714955	missense	possibly damaging	0.68
IGL01456:Nlrp4b	APN	7	10714223	missense	probably benign	0.26
IGL01537:Nlrp4b	APN	7	10714991	missense	probably damaging	1.00
IGL02539:Nlrp4b	APN	7	10714428	missense	probably damaging	0.96
IGL02730:Nlrp4b	APN	7	10714758	missense	probably damaging	1.00
IGL02871:Nlrp4b	APN	7	10715265	missense	probably benign	0.26
IGL03008:Nlrp4b	APN	7	10714589	missense	probably benign	0.00
IGL03109:Nlrp4b	APN	7	10714946	missense	probably damaging	1.00
IGL03251:Nlrp4b	APN	7	10714500	missense	probably benign	0.01
IGL03354:Nlrp4b	APN	7	10714538	missense	probably damaging	0.99
R0052:Nlrp4b	UTSW	7	10725962	nonsense	probably null
R0348:Nlrp4b	UTSW	7	10715181	missense	possibly damaging	0.60
R0564:Nlrp4b	UTSW	7	10714658	missense	probably benign	0.15
R0573:Nlrp4b	UTSW	7	10714215	missense	probably benign	0.01
R0581:Nlrp4b	UTSW	7	10714530	missense	probably damaging	1.00
R1201:Nlrp4b	UTSW	7	10715436	missense	possibly damaging	0.64
R1541:Nlrp4b	UTSW	7	10725052	missense	possibly damaging	0.91
R1771:Nlrp4b	UTSW	7	10718593	missense	probably damaging	0.96
R1781:Nlrp4b	UTSW	7	10715339	missense	probably benign	0.13
R1833:Nlrp4b	UTSW	7	10725936	missense	probably benign	0.00
R2405:Nlrp4b	UTSW	7	10714728	missense	probably benign	0.08
R2871:Nlrp4b	UTSW	7	10710243	nonsense	probably null
R2871:Nlrp4b	UTSW	7	10710243	nonsense	probably null
R2873:Nlrp4b	UTSW	7	10710243	nonsense	probably null
R2904:Nlrp4b	UTSW	7	10714367	missense	probably damaging	1.00
R3410:Nlrp4b	UTSW	7	10715529	missense	probably damaging	1.00
R3714:Nlrp4b	UTSW	7	10714881	missense	probably benign	0.04
R3982:Nlrp4b	UTSW	7	10714431	missense	possibly damaging	0.95
R4668:Nlrp4b	UTSW	7	10714733	missense	possibly damaging	0.66
R4690:Nlrp4b	UTSW	7	10719203	missense	probably benign	0.00
R4857:Nlrp4b	UTSW	7	10715298	missense	probably benign	0.05
R5247:Nlrp4b	UTSW	7	10714218	missense	probably benign	0.21
R5381:Nlrp4b	UTSW	7	10715245	nonsense	probably null
R5529:Nlrp4b	UTSW	7	10714946	missense	possibly damaging	0.91
R5589:Nlrp4b	UTSW	7	10715585	missense	probably benign	0.34
R5770:Nlrp4b	UTSW	7	10715487	missense	probably benign	0.00
R5990:Nlrp4b	UTSW	7	10714491	missense	possibly damaging	0.61
R6049:Nlrp4b	UTSW	7	10714713	nonsense	probably null
R6329:Nlrp4b	UTSW	7	10724920	missense	probably benign	0.16
R6377:Nlrp4b	UTSW	7	10715412	missense	probably benign	0.00
R7107:Nlrp4b	UTSW	7	10715217	missense	probably damaging	0.96
R7209:Nlrp4b	UTSW	7	10710370	missense	probably benign	0.01
R7237:Nlrp4b	UTSW	7	10715216	missense	probably benign	0.12
R7537:Nlrp4b	UTSW	7	10714889	missense	probably benign	0.05
R7793:Nlrp4b	UTSW	7	10725074	missense	probably benign	0.00
R8138:Nlrp4b	UTSW	7	10715531	missense	probably benign	0.01
R8190:Nlrp4b	UTSW	7	10714392	missense	probably damaging	0.96
R8326:Nlrp4b	UTSW	7	10718544	missense	probably benign	0.05
R8353:Nlrp4b	UTSW	7	10715601	missense	probably damaging	0.99
R8417:Nlrp4b	UTSW	7	10725953	nonsense	probably null
R8453:Nlrp4b	UTSW	7	10715601	missense	probably damaging	0.99
R8998:Nlrp4b	UTSW	7	10715702	missense	probably null	0.00
R9072:Nlrp4b	UTSW	7	10725943	missense	probably benign	0.02
R9073:Nlrp4b	UTSW	7	10725943	missense	probably benign	0.02
R9258:Nlrp4b	UTSW	7	10710160	missense	probably damaging	1.00
R9373:Nlrp4b	UTSW	7	10715199	missense	probably benign	0.01
R9525:Nlrp4b	UTSW	7	10714821	missense	probably damaging	0.99
R9604:Nlrp4b	UTSW	7	10710368	missense	probably benign	0.00
R9670:Nlrp4b	UTSW	7	10714724	missense	probably benign	0.11
R9679:Nlrp4b	UTSW	7	10715257	missense	probably benign	0.00
X0063:Nlrp4b	UTSW	7	10729587	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCACAGCTTGTTCCAAGATAG -3'
(R):5'- GATTCCCTGCTCTGCTCAAG -3'

Sequencing Primer
(F):5'- TTCCAAGATAGGAACATTGCCCAGG -3'
(R):5'- TCCAATATCCAGCAGTGTGG -3'

Posted On

2021-10-11