Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Nlrp4c'

490043

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

044310-MU

Accession Numbers

Essential gene?

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

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6045161-6105150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6092508 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 795 (L795P)

Ref Sequence

ENSEMBL: ENSMUSP00000146613 (fasta)

Gene Model

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

AlphaFold

Q3TKR3

Predicted Effect

probably damaging
Transcript: ENSMUST00000037728
AA Change: L795P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: L795P

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 damaging
Transcript: ENSMUST00000121583
AA Change: L795P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: L795P

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 damaging
Transcript: ENSMUST00000208360
AA Change: L795P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	C	A	9: 58,499,247	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386		probably benign	Het
Atp1a2	T	C	1: 172,278,892	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469	S351P	probably benign	Het
Cfap100	T	C	6: 90,415,786	E114G	probably benign	Het
Clec4a4	T	C	6: 122,991,874	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,920,584		probably null	Het
Cybrd1	T	C	2: 71,118,274	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344		probably benign	Het
Exoc4	T	A	6: 33,332,283	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935	D733G	probably benign	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Gulp1	A	C	1: 44,754,351	R57S	probably damaging	Het
Hdac4	G	T	1: 92,030,154	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573	V263I	probably damaging	Het
Man2a1	A	G	17: 64,733,724	I106V	possibly damaging	Het
Muc16	T	C	9: 18,558,379	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410		probably null	Het
Nup160	T	A	2: 90,717,876	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352	V5A	probably benign	Het
Pcsk5	A	G	19: 17,836,953		probably null	Het
Pex11a	G	A	7: 79,737,379	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392	V218A	probably benign	Het
Sag	G	T	1: 87,824,453	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817		probably null	Het
Senp7	T	A	16: 56,169,754	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068	A807V	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
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
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'- AATGCTAGATCTAGTGTGAAGTCAG -3'
(R):5'- CCTACCTGGCATACACTCAG -3'

Sequencing Primer
(F):5'- TCTAGTGTGAAGTCAGATGAAGG -3'
(R):5'- TGGCATACACTCAGGCATATAC -3'

Posted On

2017-10-10