Mutagenetix > Incidental Mutation

Incidental Mutation 'R6124:Nlrp6'

485876

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

044271-MU

Accession Numbers

Essential gene?

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

Stock #

R6124 (G1)

Quality Score

175.009

Status

Not validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140923247 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 422 (V422E)

Ref Sequence

ENSEMBL: ENSMUSP00000139170 (fasta)

Gene Model

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

AlphaFold

Q91WS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000106045
AA Change: V392E

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

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: V392E

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 damaging
Transcript: ENSMUST00000183845
AA Change: V392E

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

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: V392E

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 damaging
Transcript: ENSMUST00000184560
AA Change: V422E

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

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: V422E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	G	T	3: 92,869,058	P106Q	probably damaging	Het
2900026A02Rik	T	C	5: 113,183,756	N864S	probably benign	Het
Ank2	C	T	3: 127,248,151	V35M	probably benign	Het
Apc2	T	C	10: 80,306,351	M368T	probably damaging	Het
Atp8b3	G	A	10: 80,529,681	T413M	probably damaging	Het
Cxcr4	A	G	1: 128,589,660	L86P	probably damaging	Het
Cyfip1	A	G	7: 55,897,943	Y598C	probably benign	Het
Epg5	A	G	18: 78,030,045	N2428D	probably benign	Het
Fastkd3	C	T	13: 68,590,218	Q32*	probably null	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gm156	A	T	6: 129,768,135	F166Y	probably benign	Het
Gm5422	A	G	10: 31,249,400		noncoding transcript	Het
Gm9913	T	A	2: 125,506,473		probably benign	Het
Hgfac	A	G	5: 35,044,384	N287S	probably benign	Het
Hook3	A	T	8: 26,059,272	N181K	probably benign	Het
Hormad1	A	G	3: 95,576,302	T142A	probably benign	Het
Lonrf1	T	A	8: 36,229,200	N565I	probably damaging	Het
Mast1	A	G	8: 84,925,307	S349P	probably benign	Het
Mcee	T	A	7: 64,400,275	N51K	probably damaging	Het
Mfsd6	A	C	1: 52,708,252	F485V	probably damaging	Het
Mptx2	G	A	1: 173,274,847	L92F	probably benign	Het
Nrap	A	G	19: 56,386,026	S23P	probably damaging	Het
Nsd2	T	A	5: 33,843,266	H42Q	probably benign	Het
Obscn	A	T	11: 59,079,044	S91T	probably benign	Het
Olfr1337	C	A	4: 118,782,195	C130F	probably damaging	Het
Olfr215	T	C	6: 116,582,485	I154V	probably benign	Het
Olfr418	T	A	1: 173,270,279	Y35N	probably damaging	Het
Olfr497	A	T	7: 108,423,518		probably null	Het
Olfr53	A	T	7: 140,652,594	D205V	probably damaging	Het
Olfr811	G	A	10: 129,801,820	A235V	probably damaging	Het
Olfr811	C	A	10: 129,801,821	A235S	probably damaging	Het
Papss2	T	A	19: 32,637,128	N81K	probably damaging	Het
Plekhn1	A	G	4: 156,225,239	I147T	possibly damaging	Het
Ptgfrn	C	T	3: 101,073,089	E312K	probably damaging	Het
Serpinb1b	T	C	13: 33,093,813	V343A	probably benign	Het
Sis	T	C	3: 72,953,211	N261S	possibly damaging	Het
Slc41a2	T	C	10: 83,297,252	N310S	probably damaging	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Snrnp48	T	A	13: 38,216,463	I182N	possibly damaging	Het
Tppp2	A	T	14: 51,919,480	T105S	probably benign	Het
Vav3	C	T	3: 109,664,365	T201M	probably damaging	Het
Vmn1r19	A	C	6: 57,404,617	M52L	probably benign	Het
Vmn2r94	T	A	17: 18,244,059	R656S	probably benign	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
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
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'- CTCGCTTGCTAGTGACTACAC -3'
(R):5'- ATGATGATCCAGGATGCCCTCC -3'

Sequencing Primer
(F):5'- TGACTACACGCCATGCCG -3'
(R):5'- AGCATGCTGGTGATGAAG -3'

Posted On

2017-08-16