Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Nlrp6'

231379

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

040124-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140926444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 766 (V766A)

Ref Sequence

ENSEMBL: ENSMUSP00000139170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106045] [ENSMUST00000183845] [ENSMUST00000184560]

AlphaFold

Q91WS2

Predicted Effect

probably benign
Transcript: ENSMUST00000106045
AA Change: V749A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: V749A

Domain	Start	End	E-Value	Type
PYRIN	15	96	5.44e-27	SMART
low complexity region	158	169	N/A	INTRINSIC
Pfam:NACHT	194	363	8.6e-44	PFAM
coiled coil region	590	617	N/A	INTRINSIC
low complexity region	675	697	N/A	INTRINSIC
internal_repeat_1	715	763	9.43e-6	PROSPERO
internal_repeat_1	828	876	9.43e-6	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183761

Predicted Effect

probably benign
Transcript: ENSMUST00000183845
AA Change: V736A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: V736A

Domain	Start	End	E-Value	Type
PYRIN	15	96	5.44e-27	SMART
low complexity region	158	169	N/A	INTRINSIC
Pfam:NACHT	194	363	5.5e-43	PFAM
coiled coil region	590	617	N/A	INTRINSIC
low complexity region	680	694	N/A	INTRINSIC
internal_repeat_1	702	750	1.26e-5	PROSPERO
internal_repeat_1	815	863	1.26e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000184560
AA Change: V766A

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: V766A

Domain	Start	End	E-Value	Type
PYRIN	45	126	5.44e-27	SMART
low complexity region	188	199	N/A	INTRINSIC
Pfam:NACHT	224	393	8.2e-43	PFAM
coiled coil region	620	647	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
internal_repeat_1	732	780	1.55e-5	PROSPERO
internal_repeat_1	845	893	1.55e-5	PROSPERO

Meta Mutation Damage Score

0.6903

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. [provided by RefSeq, Feb 2013]
PHENOTYPE: Nullizygous mutations lead to altered colonic microbiota, increased susceptibility to induced colitis and/or inflammation-associated colon tumorigenesis. Homozygotes for a null allele show lower blood pressure and sex-specific changes in urine concentrating ability, cognition, and anxiety behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,309,013		probably benign	Het
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Actrt2	C	T	4: 154,667,094	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,792,073	T239A	probably benign	Het
Ano7	G	T	1: 93,402,133		probably benign	Het
Apc	A	T	18: 34,276,601	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Atp9a	A	T	2: 168,653,537	V583E	probably damaging	Het
Bicral	C	T	17: 46,824,815	A490T	probably benign	Het
C1rl	C	T	6: 124,508,713	P348S	probably damaging	Het
Cog1	T	C	11: 113,649,598	L13P	probably damaging	Het
Cx3cr1	T	A	9: 120,051,683	T218S	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
E2f4	A	G	8: 105,300,341	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Endod1	T	C	9: 14,357,653	N179D	probably benign	Het
Epc2	C	T	2: 49,547,609		probably benign	Het
Ets2	G	T	16: 95,718,933	R401L	probably benign	Het
Fgd4	C	T	16: 16,425,828	C614Y	probably benign	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Frem3	A	T	8: 80,615,457	T1460S	probably benign	Het
H2-M1	T	G	17: 36,670,037	T336P	possibly damaging	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Ipo7	G	T	7: 110,049,631	D704Y	probably damaging	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Jarid2	G	T	13: 44,906,336	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,147,697	L695P	probably damaging	Het
Kmt2d	A	G	15: 98,839,529		probably benign	Het
Krt25	T	C	11: 99,321,197	T205A	probably benign	Het
Lif	T	C	11: 4,269,051	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,309,477	S249P	probably benign	Het
Man2b1	A	G	8: 85,093,024		probably benign	Het
Med16	A	T	10: 79,903,082	M290K	possibly damaging	Het
Mov10l1	C	A	15: 89,007,627	Q562K	probably benign	Het
Msantd2	C	T	9: 37,522,931	R357W	probably damaging	Het
Mtmr6	T	C	14: 60,296,659	F449L	probably damaging	Het
Myt1l	A	T	12: 29,783,619		probably null	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Olfr1054	G	A	2: 86,333,345	R4C	probably benign	Het
Olfr1280	A	G	2: 111,315,499	T7A	probably benign	Het
Olfr213	A	T	6: 116,540,455	M1L	probably null	Het
Olfr743	T	C	14: 50,533,946	I178T	probably damaging	Het
Patj	T	A	4: 98,456,225	D591E	probably benign	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Pitpnm2	G	A	5: 124,127,269	P757L	probably damaging	Het
Plcd4	A	G	1: 74,564,425	T662A	probably benign	Het
Podn	C	T	4: 108,023,361	A31T	probably damaging	Het
Prss37	G	A	6: 40,515,360	R186*	probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 185,261,367	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reln	G	A	5: 21,969,085	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,824,919	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,788,518	S582P	probably damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Sars	T	C	3: 108,434,156	I114V	probably benign	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,148,532		probably benign	Het
Serpinb8	A	G	1: 107,605,887	E224G	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Srgn	T	A	10: 62,507,634		probably benign	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tada3	T	C	6: 113,371,015	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,678,354	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,737,507	R160S	possibly damaging	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Trp53bp2	A	G	1: 182,441,639	M223V	probably benign	Het
Ttc21b	C	T	2: 66,226,754	V625I	probably benign	Het
Txnrd1	T	A	10: 82,887,233	C421S	possibly damaging	Het
Unc45a	T	C	7: 80,340,098	T8A	probably benign	Het
Usp6nl	T	A	2: 6,440,937	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,359,323	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,413,208	H126L	probably benign	Het
Vps13c	A	G	9: 67,919,334	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,792,418	T776A	probably benign	Het
Zfp580	T	C	7: 5,053,009	Y123H	probably damaging	Het

Other mutations in Nlrp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Nlrp6	APN	7	140923124	missense	probably damaging	1.00
IGL01066:Nlrp6	APN	7	140921796	missense	possibly damaging	0.88
IGL01966:Nlrp6	APN	7	140925190	missense	probably damaging	1.00
IGL02625:Nlrp6	APN	7	140923500	missense	probably benign	0.00
IGL02792:Nlrp6	APN	7	140922435	missense	probably damaging	0.97
IGL02813:Nlrp6	APN	7	140923420	missense	possibly damaging	0.86
IGL03140:Nlrp6	APN	7	140927487	missense	probably benign	0.01
R0608:Nlrp6	UTSW	7	140923486	nonsense	probably null
R1404:Nlrp6	UTSW	7	140924113	small deletion	probably benign
R1404:Nlrp6	UTSW	7	140924113	small deletion	probably benign
R1472:Nlrp6	UTSW	7	140923495	missense	probably damaging	1.00
R1587:Nlrp6	UTSW	7	140923046	missense	probably damaging	1.00
R1843:Nlrp6	UTSW	7	140923093	missense	probably damaging	1.00
R1959:Nlrp6	UTSW	7	140924113	small deletion	probably benign
R2097:Nlrp6	UTSW	7	140923204	missense	probably damaging	1.00
R2118:Nlrp6	UTSW	7	140926444	missense	probably benign	0.11
R2119:Nlrp6	UTSW	7	140926444	missense	probably benign	0.11
R2121:Nlrp6	UTSW	7	140926444	missense	probably benign	0.11
R2290:Nlrp6	UTSW	7	140922163	missense	probably damaging	1.00
R3546:Nlrp6	UTSW	7	140926769	missense	probably benign	0.00
R3547:Nlrp6	UTSW	7	140926769	missense	probably benign	0.00
R3970:Nlrp6	UTSW	7	140921655	missense	probably damaging	1.00
R4483:Nlrp6	UTSW	7	140921781	missense	probably damaging	1.00
R4484:Nlrp6	UTSW	7	140921781	missense	probably damaging	1.00
R4869:Nlrp6	UTSW	7	140924093	missense	probably damaging	1.00
R4962:Nlrp6	UTSW	7	140923584	missense	probably damaging	0.99
R5436:Nlrp6	UTSW	7	140922717	nonsense	probably null
R5442:Nlrp6	UTSW	7	140922190	missense	probably benign	0.01
R5924:Nlrp6	UTSW	7	140923490	missense	probably damaging	1.00
R5936:Nlrp6	UTSW	7	140922812	nonsense	probably null
R6124:Nlrp6	UTSW	7	140923247	missense	probably damaging	1.00
R6455:Nlrp6	UTSW	7	140927509	missense	possibly damaging	0.65
R6480:Nlrp6	UTSW	7	140927443	missense	possibly damaging	0.93
R6873:Nlrp6	UTSW	7	140923520	missense	probably benign	0.01
R7061:Nlrp6	UTSW	7	140922867	missense	probably benign	0.36
R7350:Nlrp6	UTSW	7	140921278	start gained	probably benign
R7532:Nlrp6	UTSW	7	140925184	missense	probably benign	0.00
R7752:Nlrp6	UTSW	7	140927440	missense	possibly damaging	0.92
R7901:Nlrp6	UTSW	7	140927440	missense	possibly damaging	0.92
R8098:Nlrp6	UTSW	7	140923255	missense	probably damaging	1.00
R8381:Nlrp6	UTSW	7	140923841	missense	possibly damaging	0.47
R8513:Nlrp6	UTSW	7	140922830	missense	possibly damaging	0.83
R9114:Nlrp6	UTSW	7	140926419	missense	probably damaging	1.00
V7732:Nlrp6	UTSW	7	140926648	splice site	probably benign
Z1176:Nlrp6	UTSW	7	140922721	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACAGATCAGCCACTGGG -3'
(R):5'- AGCACGATGACCAAGTAATTGATC -3'

Sequencing Primer
(F):5'- TCAGCCACTGGGAACGACAG -3'
(R):5'- GACCAAGTAATTGATCACCTCTTGG -3'

Posted On

2014-09-18