Mutagenetix > Incidental Mutation

Incidental Mutation 'R9072:Nlrp4b'

689600

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4b

Ensembl Gene

ENSMUSG00000034087

Gene Name

NLR family, pyrin domain containing 4B

Synonyms

Nalp4b, Nalp-gamma

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10687789-10730168 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10725943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 824 (D824G)

Ref Sequence

ENSEMBL: ENSMUSP00000043881 (fasta)

Gene Model

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

AlphaFold

Q8C6J9

Predicted Effect

probably benign
Transcript: ENSMUST00000047809
AA Change: D824G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: D824G

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 benign
Transcript: ENSMUST00000117413
AA Change: D824G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: D824G

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
AA Change: D457G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: D457G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,944,392	Y190*	probably null	Het
Agbl3	T	C	6: 34,799,452	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,523,389	K1040N	probably damaging	Het
Ano3	T	A	2: 110,745,898	T93S	probably benign	Het
Apoc3	T	A	9: 46,233,234	I97F	probably benign	Het
Arid5a	A	G	1: 36,319,545	E401G	probably benign	Het
Atxn3	T	C	12: 101,937,471		probably null	Het
Brca1	C	T	11: 101,502,480		probably null	Het
C1ql3	T	A	2: 13,010,387	N154I	probably damaging	Het
Ccdc110	A	T	8: 45,942,838	M589L	probably benign	Het
Ccnb2	A	T	9: 70,410,813	F226I	possibly damaging	Het
Commd8	TTGTCATCT	TT	5: 72,160,984		probably null	Het
Dis3	T	C	14: 99,095,211	T262A	probably benign	Het
Eif4a2	G	A	16: 23,110,653	R234Q	probably benign	Het
Ephx2	G	A	14: 66,086,239	R481*	probably null	Het
Fbxo15	T	C	18: 84,965,520	I331T	possibly damaging	Het
Gfra2	A	G	14: 70,901,495	E121G	possibly damaging	Het
Git1	G	A	11: 77,499,075	A55T	probably benign	Het
Hfm1	T	C	5: 106,898,280	I553V	probably benign	Het
Hydin	G	A	8: 110,267,451		probably null	Het
Iqgap3	A	G	3: 88,109,466	N1085S		Het
Kbtbd12	T	C	6: 88,618,440	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,630,994	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 111,071,838	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,811,786	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,699,710	D14G	probably benign	Het
Ly6l	G	A	15: 75,449,736	V62I	possibly damaging	Het
March8	T	C	6: 116,401,923	F273L	probably benign	Het
Masp1	A	C	16: 23,469,921	S710A	probably benign	Het
Mcm10	G	A	2: 5,008,603	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,126,306	R682H	probably damaging	Het
Mink1	C	T	11: 70,608,381	T684I	possibly damaging	Het
Mocos	A	T	18: 24,664,032	Q83L	probably damaging	Het
Nags	T	C	11: 102,147,521	L351P	probably damaging	Het
Nalcn	G	A	14: 123,295,451	T1299I	possibly damaging	Het
Nwd1	A	T	8: 72,695,418	M1031L	probably benign	Het
Olfr1164	T	A	2: 88,093,828	Q36L	probably benign	Het
Olfr1188	A	C	2: 88,560,314	I271L	probably benign	Het
Olfr1286	A	T	2: 111,420,360	I197N	possibly damaging	Het
Olfr1466	A	G	19: 13,341,874	T39A	possibly damaging	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Olfr743	C	T	14: 50,533,754	T114I	probably benign	Het
Pan2	T	C	10: 128,315,181	M807T	probably damaging	Het
Parp8	A	T	13: 116,911,415	I222N	probably damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Pou1f1	T	C	16: 65,531,947	L186P		Het
Ppargc1b	G	A	18: 61,310,659	R494W	probably damaging	Het
Prg4	G	T	1: 150,455,537	P462T	unknown	Het
Ptcd1	T	A	5: 145,154,715	I525L	probably benign	Het
Ptchd4	A	T	17: 42,502,759	Y517F	probably damaging	Het
Pum1	T	C	4: 130,752,861	F693S	probably damaging	Het
Ribc2	A	C	15: 85,137,962	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,496,884		probably null	Het
Sgf29	G	A	7: 126,672,654	V284M	probably damaging	Het
Skap2	C	T	6: 51,879,770		probably null	Het
Smap1	T	A	1: 23,922,073	E28V	probably damaging	Het
Smc3	A	G	19: 53,628,769	N538D	probably benign	Het
Spen	T	C	4: 141,476,391	T1642A	unknown	Het
Spred3	G	A	7: 29,166,530	R115*	probably null	Het
Sugt1	T	A	14: 79,628,853	M304K	possibly damaging	Het
Sval1	T	C	6: 41,951,672	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500	I1574T	probably benign	Het
Tinag	T	A	9: 76,997,018		probably null	Het
Trak1	T	C	9: 121,460,488	L622P	probably damaging	Het
Ttn	C	T	2: 76,755,874	D21838N	probably damaging	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,915,806		probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,756,276	A7V	probably benign	Het
Yy1	G	T	12: 108,793,995	G195C	probably benign	Het
Zbtb17	T	A	4: 141,466,365	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,712,234	V668A	probably benign	Het
Zfp819	C	A	7: 43,617,146	T351K	probably damaging	Het
Zfp820	C	A	17: 21,820,050	S99I	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
R9002:Nlrp4b	UTSW	7	10714959	missense	probably damaging	1.00
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'- TACCCTGGCAAAGAACTTCC -3'
(R):5'- CCTCAGTGAAAGGTGGAGTTTC -3'

Sequencing Primer
(F):5'- CTGGCAAAGAACTTCCTTTTTGTTG -3'
(R):5'- GCAGTATTATCATTGCTGTGACC -3'

Posted On

2021-11-19