Mutagenetix > Incidental Mutations

Incidental Mutation 'R5043:Nlrp4c'

393300

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

042633-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6045161-6105150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6066825 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 575 (N575S)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000037728
AA Change: N575S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: N575S

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: N575S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: N575S

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

noncoding transcript
Transcript: ENSMUST00000207267

Predicted Effect

probably benign
Transcript: ENSMUST00000208360
AA Change: N575S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0873

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 145,044,100	Y106*	probably null	Het
1700061G19Rik	A	G	17: 56,885,198	Y587C	probably damaging	Het
Akap12	G	C	10: 4,355,047	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,974,004	K32E	probably benign	Het
Capg	T	A	6: 72,558,254	Y253*	probably null	Het
Cntnap3	A	T	13: 64,794,348	F189L	probably damaging	Het
Cp	T	C	3: 19,973,917	S496P	probably benign	Het
Cxcl11	T	C	5: 92,363,152		probably null	Het
Dennd3	T	C	15: 73,527,936	L217P	probably benign	Het
Dip2c	G	T	13: 9,551,827	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,884,190	S3776L	probably damaging	Het
Emcn	A	G	3: 137,391,601	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,492,867	Y397*	probably null	Het
Gabrp	T	C	11: 33,568,072	N79D	probably benign	Het
Glmp	T	G	3: 88,326,676		probably benign	Het
Gm12794	T	C	4: 101,940,524	F40L	possibly damaging	Het
Gm5921	C	T	9: 115,438,019		noncoding transcript	Het
Gm6483	A	G	8: 19,693,670	T104A	probably benign	Het
Ifi206	A	T	1: 173,486,718	M52K	probably damaging	Het
Iqcc	T	C	4: 129,618,277		probably benign	Het
Klra2	T	A	6: 131,220,172	H288L	probably benign	Het
Myo5b	T	C	18: 74,638,153		probably null	Het
Nisch	A	G	14: 31,176,465		probably benign	Het
Olfr354	A	C	2: 36,906,965	R6S	probably benign	Het
Olfr913	A	G	9: 38,594,841	I207V	probably damaging	Het
Phlda1	T	A	10: 111,507,291	L296Q	unknown	Het
Rab36	G	A	10: 75,051,005	E182K	probably benign	Het
Rasa3	G	A	8: 13,570,368	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,369,465	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,237,466	N221T	probably damaging	Het
Smg6	T	C	11: 74,929,895	S331P	possibly damaging	Het
Snx1	C	T	9: 66,097,436	A183T	probably benign	Het
Srpk2	T	C	5: 23,524,517	T375A	probably benign	Het
Tecpr1	T	C	5: 144,197,854		probably null	Het
Topaz1	A	T	9: 122,748,404	E126D	probably benign	Het
Ugt2b1	C	G	5: 86,917,644	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,251,860	W263*	probably null	Het
Utp20	A	T	10: 88,798,746	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,208,465	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,700,827	Y1257C	probably 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
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
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
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'- TGGCCTTTTACATGAATCAGAAC -3'
(R):5'- TTGAATCTGCCTGTATAAATCACC -3'

Sequencing Primer
(F):5'- GCCTGGAAACCATAAGTG -3'
(R):5'- ATCTGCCTGTATAAATCACCAATAC -3'

Posted On

2016-06-15