Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:Nlrp4c'

316335

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

040854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4072 (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 6072710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 667 (K667E)

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: K667E

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

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: K667E

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: K667E

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

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: K667E

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: K667E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,945,361		probably null	Het
Abcc5	A	G	16: 20,333,695	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Acss3	C	T	10: 107,123,585		probably benign	Het
Ankar	G	T	1: 72,688,592	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atp4a	T	C	7: 30,715,332	I182T	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Baz1a	A	G	12: 54,941,560	I268T	probably benign	Het
Baz2b	A	T	2: 59,912,573		probably null	Het
C2cd4d	C	A	3: 94,363,878	C150*	probably null	Het
Crtac1	T	C	19: 42,304,707	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,106,492	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,298	R2284*	probably null	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Galntl5	A	T	5: 25,198,480	K150*	probably null	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm19965	A	G	1: 116,821,071	T161A	probably benign	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hydin	G	A	8: 110,505,256	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Obscn	A	G	11: 58,997,183	I7652T	unknown	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr52	T	A	2: 86,181,647	M155L	probably benign	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde7a	G	A	3: 19,256,853	R70C	probably damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pms2	T	C	5: 143,929,001	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Rp1l1	A	T	14: 64,028,132	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,338,907	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,946,680	D374G	probably damaging	Het
Slco2a1	T	A	9: 103,068,002	I192N	probably damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396	T45A	probably damaging	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Vwc2	T	A	11: 11,116,446	L178Q	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,998,064	T617I	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
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
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'- CAGTGGAATGTATTTCTTTGTCCTC -3'
(R):5'- GAAGCCCTGCATACACTTTCATC -3'

Sequencing Primer
(F):5'- GTCCTCTGTTACAGGGAAAAGCTAC -3'
(R):5'- TTAGTGGTACCAAGCCAG -3'

Posted On

2015-05-15