Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Nlrp6'

231451

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2121 (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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adnp2	A	G	18: 80,129,170	F675L	probably benign	Het
Akna	G	A	4: 63,376,900	T1024I	probably benign	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Aox3	T	C	1: 58,152,549		probably benign	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,340,283	N263Y	probably damaging	Het
Arpp21	A	G	9: 112,136,670	S375P	probably damaging	Het
Bscl2	G	T	19: 8,839,782	E25*	probably null	Het
Ccl12	T	A	11: 82,101,950	S17R	probably damaging	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Ceacam9	T	A	7: 16,722,003	F12I	probably benign	Het
Cldn23	A	G	8: 35,826,235	V33A	probably benign	Het
Cog1	T	C	11: 113,649,598	L13P	probably damaging	Het
Col20a1	G	C	2: 180,996,456	A346P	probably damaging	Het
Col6a3	T	C	1: 90,810,365	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,514	R423H	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Diaph1	A	T	18: 37,896,389	M330K	unknown	Het
Dnah5	C	T	15: 28,297,005		probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancl	G	T	11: 26,459,841		probably benign	Het
Gm10477	A	G	X: 56,524,832	K31E	probably damaging	Het
Gm7173	T	C	X: 79,510,321	I267V	probably benign	Het
Gstm7	T	C	3: 107,926,914	M175V	probably benign	Het
Hcn4	T	C	9: 58,824,058	S183P	unknown	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Ints6l	T	A	X: 56,504,868	S718T	probably benign	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Kdm3b	T	C	18: 34,796,780		probably benign	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,660,971	Y1746C	probably damaging	Het
Mageb5	A	G	X: 91,780,095	I226T	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mlc1	A	G	15: 88,963,431	Y305H	probably benign	Het
Muc4	A	G	16: 32,760,238	Y2474C	unknown	Het
Mybphl	A	C	3: 108,375,176	N175T	probably damaging	Het
Ncbp3	T	C	11: 73,053,478	V102A	possibly damaging	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Olfr1045	T	A	2: 86,197,996	Y252F	possibly damaging	Het
Olfr866	T	G	9: 20,027,501	I146L	probably benign	Het
Palb2	T	C	7: 122,127,781	T289A	possibly damaging	Het
Pde10a	A	T	17: 8,977,215	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,023,128	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,199,342		probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,389,682	M203V	possibly damaging	Het
Slc6a21	A	T	7: 45,288,462	I726F	probably benign	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,295,014	S75P	probably damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmed11	G	A	5: 108,795,332		probably benign	Het
Tmem81	C	A	1: 132,508,109	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,299,893	T110I	probably benign	Het
Ttc25	T	A	11: 100,567,011		probably null	Het
Tub	G	A	7: 109,026,737	G232S	probably damaging	Het
Vmn2r121	A	T	X: 124,133,742		probably null	Het
Vwa5b1	T	C	4: 138,588,569	T621A	probably benign	Het
Ythdf3	T	C	3: 16,205,192	F501S	possibly 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
R2120: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'- GAGCACGATGACCAAGTAATTG -3'

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

Posted On

2014-09-18