Mutagenetix > Incidental Mutations

Incidental Mutation 'R7081:Nlrp10'

549532

Institutional Source

Beutler Lab

Gene Symbol

Nlrp10

Ensembl Gene

ENSMUSG00000049709

Gene Name

NLR family, pyrin domain containing 10

Synonyms

Nalp10, 6430548I20Rik, Pynod

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108921852-108930178 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108924648 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 542 (S542A)

Ref Sequence

ENSEMBL: ENSMUSP00000050252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055745]

PDB Structure

Solution structure of the Pyrin/PAAD-DAPIN domain in mouse NALP10 (NACHT, leucine rich repeat and PYD containing 10) [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000055745
AA Change: S542A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000050252
Gene: ENSMUSG00000049709
AA Change: S542A

Domain	Start	End	E-Value	Type
PYRIN	9	88	4.13e-18	SMART
low complexity region	126	137	N/A	INTRINSIC
AAA	161	302	1.07e-2	SMART
low complexity region	576	597	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). The protein encoded by this gene belongs to the NALP protein family despite lacking the LRR region. This protein likely plays a regulatory role in the innate immune system. The protein belongs to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory caspases, caspase-1 and caspase-5. Other experiments indicate that this gene acts as a multifunctional negative regulator of inflammation and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a global defect in adaptive immune responses with impaired dendritic cell migration to lymph nodes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,817	V82A	possibly damaging	Het
Aatf	T	A	11: 84,471,125	H337L	possibly damaging	Het
Abcb4	T	A	5: 8,934,263	N664K	probably benign	Het
Adh7	A	G	3: 138,228,845	D343G	probably benign	Het
Als2cl	G	A	9: 110,894,582	R682Q	possibly damaging	Het
Angptl6	A	C	9: 20,875,348	I334R	probably damaging	Het
Ankrd45	A	G	1: 161,151,293	N101D	probably benign	Het
Arhgef10	C	T	8: 14,997,547	Q1137*	probably null	Het
Asap3	T	A	4: 136,241,570		probably null	Het
Bmp2k	T	C	5: 97,064,961	S568P	unknown	Het
C4b	A	C	17: 34,735,443	F917L	probably benign	Het
Cacna1e	A	T	1: 154,700,383	V168E	possibly damaging	Het
Ccdc60	T	A	5: 116,126,087	I543F	probably benign	Het
Cd36	T	C	5: 17,814,704	D133G	probably damaging	Het
Chd4	T	C	6: 125,129,985	V1911A	unknown	Het
Cplx4	A	T	18: 65,967,467		probably null	Het
Cyp1a2	A	T	9: 57,678,989	D415E	possibly damaging	Het
Cyp3a57	T	C	5: 145,381,373	I388T	probably damaging	Het
Dnajc5b	T	C	3: 19,546,861		probably null	Het
Dock4	A	T	12: 40,621,286	I35F	probably damaging	Het
Efna4	A	T	3: 89,334,294	L206Q	unknown	Het
Eif2a	T	C	3: 58,541,718		probably null	Het
Fam120a	A	G	13: 48,910,325	F612L	probably damaging	Het
Fbxw21	A	G	9: 109,161,922	L23P	probably damaging	Het
Fcamr	A	T	1: 130,813,212	E456V	probably damaging	Het
Fkbp8	G	A	8: 70,530,994	R106H	probably benign	Het
Galr2	T	A	11: 116,283,048	L168Q	probably damaging	Het
Gm11111	C	T	5: 98,553,540	S22L	unknown	Het
Gm14124	A	G	2: 150,268,269	H293R	possibly damaging	Het
Gm3183	T	A	5: 94,874,782	N107K	possibly damaging	Het
Gnpat	T	C	8: 124,863,269	F11S	possibly damaging	Het
H2-T24	A	T	17: 36,017,452	D46E	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Ifna12	T	C	4: 88,603,203	R36G	probably damaging	Het
Kcnma1	G	A	14: 23,300,018	P1151L	probably damaging	Het
Kif5c	T	A	2: 49,741,361	D683E	probably benign	Het
Krit1	T	C	5: 3,823,651	Y477H	possibly damaging	Het
Lipm	T	A	19: 34,121,323	V399D	possibly damaging	Het
Lrguk	A	T	6: 34,102,139	T770S	probably benign	Het
Lrrc37a	T	C	11: 103,457,955	N2638S	unknown	Het
Lrrc40	T	C	3: 158,036,805	V27A	probably damaging	Het
Map4k1	T	C	7: 28,991,149	V355A	probably benign	Het
Mylk3	T	C	8: 85,364,793	I128V	probably benign	Het
Myo1c	A	G	11: 75,660,963	D289G	probably benign	Het
Mypn	A	G	10: 63,134,958	F889S	probably damaging	Het
Ndufv3	C	T	17: 31,527,433	P99L	possibly damaging	Het
Noc2l	T	A	4: 156,247,020	D718E	possibly damaging	Het
Ntng1	T	A	3: 109,851,789	I355F	probably benign	Het
Nup210	A	G	6: 91,060,665	V742A	possibly damaging	Het
Olfr1037	A	T	2: 86,085,595	F61I	probably damaging	Het
Olfr560	A	T	7: 102,753,188	I247N	probably benign	Het
Olig2	T	A	16: 91,226,419	L7Q	probably damaging	Het
Parpbp	A	T	10: 88,093,655	W444R	probably damaging	Het
Plekhg3	A	G	12: 76,578,245	E1287G	probably benign	Het
Pramef25	T	C	4: 143,949,278	D326G	probably damaging	Het
Prrc2b	A	T	2: 32,213,063	Q851L	probably benign	Het
Psg21	C	T	7: 18,654,849	W106*	probably null	Het
Rab18	T	G	18: 6,778,529	D53E	probably benign	Het
Rbm19	T	A	5: 120,123,151		probably null	Het
Rhobtb1	T	C	10: 69,266,297	V136A	probably benign	Het
Rsph4a	G	A	10: 33,909,193	V367I	probably damaging	Het
Sec24b	T	C	3: 129,987,742	N1161S	probably benign	Het
Sgcd	C	A	11: 47,125,601	G145*	probably null	Het
Sin3a	A	G	9: 57,094,471	K134R	probably null	Het
Slc9b2	A	G	3: 135,321,937	E108G	probably benign	Het
Stk24	A	T	14: 121,294,294	S317T	probably benign	Het
Stra8	T	A	6: 34,934,367		probably null	Het
Tmem131	A	G	1: 36,889,295	V71A	possibly damaging	Het
Tmem87a	T	C	2: 120,380,783	D227G	possibly damaging	Het
Vnn1	T	A	10: 23,895,005	L44M	possibly damaging	Het
Wdr20	G	A	12: 110,803,450	V160I	possibly damaging	Het
Zfand4	T	A	6: 116,315,620	N667K	possibly damaging	Het
Zfp609	A	G	9: 65,702,441	V1080A	possibly damaging	Het
Zhx1	C	T	15: 58,054,338	V171I	probably benign	Het

Other mutations in Nlrp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Nlrp10	APN	7	108924581	missense	possibly damaging	0.86
IGL01482:Nlrp10	APN	7	108926952	missense	probably benign
IGL02043:Nlrp10	APN	7	108925502	missense	probably damaging	0.99
IGL03129:Nlrp10	APN	7	108924911	missense	probably damaging	1.00
IGL02835:Nlrp10	UTSW	7	108924662	missense	possibly damaging	0.61
R0106:Nlrp10	UTSW	7	108925322	missense	possibly damaging	0.94
R0106:Nlrp10	UTSW	7	108925322	missense	possibly damaging	0.94
R0540:Nlrp10	UTSW	7	108924285	missense	probably benign	0.26
R0607:Nlrp10	UTSW	7	108924285	missense	probably benign	0.26
R1166:Nlrp10	UTSW	7	108925010	missense	probably damaging	1.00
R1248:Nlrp10	UTSW	7	108925881	missense	probably benign	0.08
R1450:Nlrp10	UTSW	7	108925388	missense	probably damaging	0.98
R1459:Nlrp10	UTSW	7	108924348	missense	probably benign
R1567:Nlrp10	UTSW	7	108927050	missense	probably benign	0.02
R1635:Nlrp10	UTSW	7	108924530	missense	possibly damaging	0.93
R1845:Nlrp10	UTSW	7	108927041	missense	probably damaging	1.00
R1912:Nlrp10	UTSW	7	108925395	nonsense	probably null
R1952:Nlrp10	UTSW	7	108924563	missense	probably benign	0.20
R1953:Nlrp10	UTSW	7	108925118	missense	probably benign	0.00
R2079:Nlrp10	UTSW	7	108925628	missense	possibly damaging	0.66
R3615:Nlrp10	UTSW	7	108924476	missense	probably benign
R3616:Nlrp10	UTSW	7	108924476	missense	probably benign
R4207:Nlrp10	UTSW	7	108924341	missense	possibly damaging	0.56
R4786:Nlrp10	UTSW	7	108925238	missense	probably damaging	1.00
R5048:Nlrp10	UTSW	7	108924565	missense	probably benign	0.01
R5568:Nlrp10	UTSW	7	108924261	missense	probably benign	0.00
R5993:Nlrp10	UTSW	7	108927013	missense	probably benign	0.00
R6033:Nlrp10	UTSW	7	108924577	missense	probably benign	0.17
R6033:Nlrp10	UTSW	7	108924577	missense	probably benign	0.17
R6170:Nlrp10	UTSW	7	108924464	missense	probably benign	0.00
R6320:Nlrp10	UTSW	7	108925746	missense	possibly damaging	0.82
R6935:Nlrp10	UTSW	7	108926900	missense	probably damaging	0.99
R7024:Nlrp10	UTSW	7	108925198	missense	possibly damaging	0.73
R7397:Nlrp10	UTSW	7	108924692	missense	probably damaging	1.00
R7720:Nlrp10	UTSW	7	108924488	missense	probably benign	0.36
R7763:Nlrp10	UTSW	7	108925826	missense	probably damaging	0.99
R7776:Nlrp10	UTSW	7	108925449	missense	probably damaging	1.00
R7823:Nlrp10	UTSW	7	108924261	missense	probably benign	0.00
R7852:Nlrp10	UTSW	7	108925074	missense	probably damaging	1.00
R8272:Nlrp10	UTSW	7	108925896	missense	probably benign	0.00
Z1177:Nlrp10	UTSW	7	108925851	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGGACTTTGTACCTTCCCG -3'
(R):5'- CTTGTGAAGGAGGACCAGAGTC -3'

Sequencing Primer
(F):5'- GACTTTGTACCTTCCCGCTACTAAAG -3'
(R):5'- TGGCAAAGCTGGTGGATCC -3'

Posted On

2019-05-15