Mutagenetix > Incidental Mutation

Incidental Mutation 'R9702:Nlrp4c'

729618

Institutional Source

Beutler Lab

Gene Symbol

Nlrp4c

Ensembl Gene

ENSMUSG00000034690

Gene Name

NLR family, pyrin domain containing 4C

Synonyms

Nalp-alpha, Rnh2, Nalp4c

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9702 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6045161-6105150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6065802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 234 (V234E)

Ref Sequence

ENSEMBL: ENSMUSP00000046503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037728] [ENSMUST00000121583] [ENSMUST00000208360]

AlphaFold

Q3TKR3

Predicted Effect

probably benign
Transcript: ENSMUST00000037728
AA Change: V234E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: V234E

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.41e-34	SMART
Pfam:NACHT	148	317	4.5e-40	PFAM
LRR	689	716	2.91e0	SMART
LRR	718	745	1.49e1	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	6.24e1	SMART
LRR	802	829	3.07e-1	SMART
LRR	831	858	4.11e-1	SMART
LRR	859	886	3.31e-6	SMART
LRR	888	915	6.16e0	SMART
LRR	916	943	9.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121583
AA Change: V234E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: V234E

Domain	Start	End	E-Value	Type
PYRIN	6	89	1.41e-34	SMART
Pfam:NACHT	148	317	1.7e-39	PFAM
LRR	689	716	2.91e0	SMART
LRR	718	745	1.49e1	SMART
LRR	746	772	2.5e1	SMART
LRR	774	801	6.24e1	SMART
LRR	802	829	3.07e-1	SMART
LRR	831	858	4.11e-1	SMART
LRR	859	886	3.31e-6	SMART
LRR	888	915	6.16e0	SMART
LRR	916	943	9.24e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000208360
AA Change: V234E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,216,552	Y746H	probably damaging	Het
Adgrv1	T	A	13: 81,536,364	I1073F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,202	R493H	possibly damaging	Het
Apob	G	T	12: 8,007,559	A2014S	probably damaging	Het
Bdnf	A	T	2: 109,723,772	M164L	possibly damaging	Het
Ccdc187	C	T	2: 26,282,210	V287M	unknown	Het
Cd164	G	A	10: 41,528,822	R192Q	probably damaging	Het
Cd84	T	C	1: 171,872,931	V205A	probably benign	Het
Cfap161	T	A	7: 83,793,444	M54L	probably benign	Het
Crim1	T	A	17: 78,374,087	V990E	probably damaging	Het
Dsc1	A	G	18: 20,094,628	F518L	probably benign	Het
Esyt1	G	A	10: 128,520,738	S346L	probably damaging	Het
Fbxo30	G	T	10: 11,290,638	C368F	probably benign	Het
Gas2l3	C	T	10: 89,414,081	A392T	probably benign	Het
Gfra4	T	A	2: 131,042,619	S22C	probably benign	Het
Gm11992	T	G	11: 9,056,568	V166G	probably benign	Het
Gm14085	T	A	2: 122,523,531	I546N	probably damaging	Het
Gp1bb	A	T	16: 18,621,134	L70Q	probably damaging	Het
Gtf2i	T	C	5: 134,246,561	T707A	probably benign	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Kynu	T	A	2: 43,589,457	M121K	probably damaging	Het
Ldb3	A	G	14: 34,577,133	V178A	probably benign	Het
Lrrc31	A	G	3: 30,681,077	L350P	probably damaging	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrps23	C	T	11: 88,210,172	T121M	probably damaging	Het
Olfr585	T	C	7: 103,098,136	Y132H	probably damaging	Het
Pign	A	T	1: 105,557,487	D782E	probably damaging	Het
Rab11b	C	A	17: 33,749,052	R82L	possibly damaging	Het
Sema3c	T	C	5: 17,653,830	S76P	probably damaging	Het
Sobp	T	C	10: 43,021,948	N547S	probably benign	Het
Tigd3	G	A	19: 5,892,808	T98M	probably damaging	Het
Tox	T	G	4: 6,697,418	M462L	probably benign	Het
Vmn1r158	T	A	7: 22,790,640	Q48L	probably benign	Het
Vps8	A	G	16: 21,644,133	T1383A	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het
Zfp108	C	T	7: 24,260,770	T262I	probably benign	Het

Other mutations in Nlrp4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Nlrp4c	APN	7	6066702	missense	possibly damaging	0.80
IGL01458:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01464:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01470:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01481:Nlrp4c	APN	7	6100784	missense	possibly damaging	0.94
IGL01531:Nlrp4c	APN	7	6060656	missense	probably damaging	1.00
IGL01595:Nlrp4c	APN	7	6066112	nonsense	probably null
IGL02087:Nlrp4c	APN	7	6092583	missense	probably damaging	1.00
IGL02226:Nlrp4c	APN	7	6066829	missense	possibly damaging	0.78
IGL02588:Nlrp4c	APN	7	6084648	missense	probably benign	0.25
IGL02822:Nlrp4c	APN	7	6065727	missense	probably damaging	1.00
IGL02884:Nlrp4c	APN	7	6098952	missense	probably damaging	1.00
IGL02943:Nlrp4c	APN	7	6065975	missense	probably damaging	0.96
IGL03017:Nlrp4c	APN	7	6084680	missense	probably benign	0.23
R0347:Nlrp4c	UTSW	7	6066416	missense	possibly damaging	0.69
R0579:Nlrp4c	UTSW	7	6060845	missense	probably benign	0.05
R1051:Nlrp4c	UTSW	7	6065943	missense	probably benign	0.01
R1596:Nlrp4c	UTSW	7	6066778	missense	probably benign
R1636:Nlrp4c	UTSW	7	6066738	missense	possibly damaging	0.64
R1739:Nlrp4c	UTSW	7	6073222	missense	probably damaging	1.00
R1766:Nlrp4c	UTSW	7	6073114	missense	probably benign	0.00
R1824:Nlrp4c	UTSW	7	6066956	splice site	probably null
R1827:Nlrp4c	UTSW	7	6065766	missense	probably damaging	1.00
R1858:Nlrp4c	UTSW	7	6084656	missense	probably benign	0.02
R1902:Nlrp4c	UTSW	7	6065819	missense	probably damaging	0.98
R2217:Nlrp4c	UTSW	7	6073114	missense	probably benign
R2415:Nlrp4c	UTSW	7	6066048	missense	probably damaging	1.00
R3004:Nlrp4c	UTSW	7	6065525	missense	probably benign	0.28
R3005:Nlrp4c	UTSW	7	6065525	missense	probably benign	0.28
R3410:Nlrp4c	UTSW	7	6092570	missense	possibly damaging	0.69
R3411:Nlrp4c	UTSW	7	6092570	missense	possibly damaging	0.69
R3710:Nlrp4c	UTSW	7	6065628	missense	probably damaging	0.99
R4072:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4073:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4075:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4076:Nlrp4c	UTSW	7	6072710	missense	probably benign	0.00
R4542:Nlrp4c	UTSW	7	6100827	nonsense	probably null
R4709:Nlrp4c	UTSW	7	6065425	missense	probably benign	0.31
R4776:Nlrp4c	UTSW	7	6066126	missense	probably benign	0.41
R5043:Nlrp4c	UTSW	7	6066825	missense	probably benign	0.01
R5258:Nlrp4c	UTSW	7	6066623	missense	probably benign	0.06
R6164:Nlrp4c	UTSW	7	6092508	missense	probably damaging	1.00
R6383:Nlrp4c	UTSW	7	6066053	missense	probably benign
R6650:Nlrp4c	UTSW	7	6065949	missense	probably damaging	0.99
R6810:Nlrp4c	UTSW	7	6066755	missense	probably damaging	1.00
R7095:Nlrp4c	UTSW	7	6060793	missense	probably damaging	0.97
R7102:Nlrp4c	UTSW	7	6065709	nonsense	probably null
R7104:Nlrp4c	UTSW	7	6065709	nonsense	probably null
R7232:Nlrp4c	UTSW	7	6065709	nonsense	probably null
R7444:Nlrp4c	UTSW	7	6092596	nonsense	probably null
R7705:Nlrp4c	UTSW	7	6072636	missense	probably damaging	0.97
R7966:Nlrp4c	UTSW	7	6066323	missense	probably damaging	0.99
R8506:Nlrp4c	UTSW	7	6100776	missense	possibly damaging	0.47
R8677:Nlrp4c	UTSW	7	6072645	missense	probably damaging	0.99
R8708:Nlrp4c	UTSW	7	6065604	missense	probably damaging	1.00
R8838:Nlrp4c	UTSW	7	6066338	missense
R9031:Nlrp4c	UTSW	7	6104609	makesense	probably null
R9193:Nlrp4c	UTSW	7	6092622	missense	probably benign
R9329:Nlrp4c	UTSW	7	6065499	missense	probably benign
R9388:Nlrp4c	UTSW	7	6066875	nonsense	probably null
R9474:Nlrp4c	UTSW	7	6065627	missense	possibly damaging	0.83
R9567:Nlrp4c	UTSW	7	6060625	missense	probably benign	0.17
X0060:Nlrp4c	UTSW	7	6065918	missense	probably damaging	1.00
Z1088:Nlrp4c	UTSW	7	6066636	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGCAAGTCATTGATGTTGAC -3'
(R):5'- ATTTGTGCACTCAACCCTGC -3'

Sequencing Primer
(F):5'- AATGCTTGCCTGGTCAGAAG -3'
(R):5'- GCCCTCCATTTTCTCAAAAGTC -3'

Posted On

2022-10-06