Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Nlrp4c'

241207

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

040219-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6045161-6105150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6073114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 671 (V671A)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

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

AlphaFold

Q3TKR3

Predicted Effect

probably benign
Transcript: ENSMUST00000037728
AA Change: V671A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: V671A

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: V671A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: V671A

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: V671A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7535	A	G	17: 17,911,674		probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724		probably null	Het
Nsrp1	A	T	11: 77,045,761	Y536*	probably null	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681		probably null	Het
Phf6	A	T	X: 52,942,648	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685		probably null	Het
Pp2d1	C	A	17: 53,515,454	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706		probably null	Het
Tiam2	A	G	17: 3,415,114	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306		probably benign	Het
Zbtb22	T	G	17: 33,917,965	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111	L143P	possibly damaging	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
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
R9702:Nlrp4c	UTSW	7	6065802	missense	probably benign	0.00
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'- CAGGGCTTCTTCATGTGACAG -3'
(R):5'- CTTTTAAGGGGAGTCAATGAGC -3'

Sequencing Primer
(F):5'- TCATGTGACAGCCAACCTTG -3'
(R):5'- TCAATGAGCTAGGAGAACACAC -3'

Posted On

2014-10-15