Mutagenetix > Incidental Mutation

Incidental Mutation 'R4869:Nlrp6'

376413

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

042479-MU

Accession Numbers

Essential gene?

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

Stock #

R4869 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140924093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 704 (C704Y)

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: C674Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: C674Y

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: C674Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: C674Y

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: C704Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: C704Y

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

0.0968

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (102/103)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,254,205	K943N	probably damaging	Het
Abca13	G	A	11: 9,315,434		probably null	Het
Ankub1	A	G	3: 57,690,330	L73P	probably damaging	Het
Birc6	A	G	17: 74,586,012	I982V	probably benign	Het
Cabyr	G	T	18: 12,751,818	*454L	probably null	Het
Ccdc57	C	T	11: 120,903,518		probably null	Het
Cd209c	A	G	8: 3,944,077	F128L	probably benign	Het
Cdh23	A	T	10: 60,376,934	I1566N	probably damaging	Het
Cdon	T	C	9: 35,452,904	V106A	possibly damaging	Het
Cebpa	G	T	7: 35,119,821	G135C	probably damaging	Het
Cfap65	A	G	1: 74,919,261	S896P	probably benign	Het
Ciz1	T	C	2: 32,364,235	S63P	probably damaging	Het
Clybl	G	A	14: 122,384,206	V269M	probably damaging	Het
Ctnnb1	G	T	9: 120,952,994	V358L	possibly damaging	Het
Cwh43	G	T	5: 73,428,673		probably null	Het
Cyp2d10	G	A	15: 82,403,766	R379C	probably benign	Het
Dab2ip	C	A	2: 35,720,037	R727S	probably damaging	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dock1	A	T	7: 134,734,071	I65F	probably damaging	Het
Ercc2	T	C	7: 19,386,807	V155A	probably damaging	Het
Exph5	A	C	9: 53,376,239	D1540A	possibly damaging	Het
Fat3	T	A	9: 16,377,477	H250L	probably damaging	Het
Fbxw10	C	A	11: 62,862,731	A517E	probably damaging	Het
Furin	A	T	7: 80,396,979	N176K	probably damaging	Het
Gabrb3	A	G	7: 57,792,459		probably benign	Het
Gabrg2	A	T	11: 41,920,404	S305T	probably damaging	Het
Gas6	G	T	8: 13,475,086	S299R	possibly damaging	Het
Gga3	G	T	11: 115,586,285		probably benign	Het
Gle1	A	G	2: 29,936,020	E37G	possibly damaging	Het
Gm6614	T	C	6: 141,987,766	D431G	probably damaging	Het
Gm7964	A	G	7: 83,756,142	D80G	possibly damaging	Het
Gne	C	T	4: 44,055,204		probably null	Het
Grid2	G	T	6: 64,429,740	G695W	probably damaging	Het
H2-M10.6	A	T	17: 36,812,533	M40L	probably benign	Het
Hectd4	G	T	5: 121,322,672	V905L	possibly damaging	Het
Isyna1	C	A	8: 70,596,762	S441R	possibly damaging	Het
Kcnh3	C	T	15: 99,242,032	S933L	probably benign	Het
Knl1	T	C	2: 119,072,351	I1511T	possibly damaging	Het
Krt73	T	C	15: 101,796,398	E351G	probably damaging	Het
Lipo4	C	T	19: 33,501,553		probably null	Het
Llgl1	T	A	11: 60,707,210	L360*	probably null	Het
Map2k5	G	A	9: 63,322,243	R169*	probably null	Het
Muc19	A	T	15: 91,897,716		noncoding transcript	Het
Muc4	G	A	16: 32,754,836		probably benign	Het
Myh4	A	G	11: 67,252,664	E1074G	probably damaging	Het
Naip5	C	T	13: 100,245,131	G210E	probably damaging	Het
Nalcn	A	G	14: 123,599,884	S23P	probably benign	Het
Nepro	T	A	16: 44,730,173	M176K	probably damaging	Het
Notch1	A	G	2: 26,471,179	S1100P	probably benign	Het
Nrxn3	A	G	12: 88,795,582	E133G	possibly damaging	Het
Parp9	T	C	16: 35,956,904	L406S	probably damaging	Het
Peak1	G	T	9: 56,227,592	A155D	probably benign	Het
Piezo1	G	A	8: 122,487,545	H1628Y	probably benign	Het
Piwil2	A	G	14: 70,395,362	V587A	probably benign	Het
Pkn2	A	G	3: 142,803,618	Y722H	probably damaging	Het
Plch2	A	T	4: 154,989,428	I834K	probably benign	Het
Pld1	A	G	3: 28,109,802	T795A	possibly damaging	Het
Plekhh1	A	G	12: 79,050,386	S103G	probably benign	Het
Ppl	T	C	16: 5,104,889	Y246C	probably damaging	Het
Prpf40b	G	A	15: 99,309,845		probably benign	Het
Prr14l	A	G	5: 32,828,833	L1106P	probably damaging	Het
Ptbp3	T	A	4: 59,524,443	I28F	possibly damaging	Het
Ptrh2	A	T	11: 86,689,805	K83*	probably null	Het
Rai1	T	C	11: 60,186,762	S551P	probably damaging	Het
Rapgefl1	A	T	11: 98,851,109	Q633L	probably damaging	Het
Rb1cc1	T	C	1: 6,215,021		probably benign	Het
Rif1	T	A	2: 52,093,611		probably benign	Het
Rnf141	A	G	7: 110,825,350	Y101H	probably damaging	Het
Rnf219	A	G	14: 104,478,816	I707T	probably damaging	Het
Rttn	T	A	18: 89,043,014	L1102*	probably null	Het
Sall4	G	A	2: 168,755,717	S401F	probably damaging	Het
Sec11c	T	C	18: 65,801,470	I36T	probably benign	Het
Sel1l	A	G	12: 91,814,054		probably benign	Het
Setd1a	T	C	7: 127,797,604		probably benign	Het
Sez6l2	C	T	7: 126,961,842	P433L	probably benign	Het
Sgf29	T	C	7: 126,649,375		probably benign	Het
Slc47a1	A	G	11: 61,362,694	V305A	probably benign	Het
Sun2	T	C	15: 79,728,386		probably benign	Het
Tecta	T	C	9: 42,375,534	S609G	probably benign	Het
Tex45	G	A	8: 3,487,148	S498N	probably damaging	Het
Tmprss6	T	A	15: 78,443,680		probably null	Het
Tns1	T	C	1: 73,952,615	H968R	probably benign	Het
Tomm34	G	A	2: 164,054,717	A270V	probably damaging	Het
Tpo	T	C	12: 30,103,365	K330R	probably benign	Het
Ttn	T	A	2: 76,712,493	Y33383F	probably damaging	Het
Unc13c	G	T	9: 73,680,434	A1439D	probably benign	Het
Vcp	C	T	4: 42,993,691	R147H	probably benign	Het
Vps13d	A	G	4: 145,128,042	L2272P	probably damaging	Het
Wdfy3	A	G	5: 101,894,921	L1988P	probably damaging	Het
Wwc2	A	G	8: 47,920,678	F51S	probably damaging	Het
Zfp454	C	T	11: 50,873,153	C373Y	probably damaging	Het
Zfp853	A	T	5: 143,288,293	V473E	probably damaging	Het
Zfp959	A	T	17: 55,897,228	R85S	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
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
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'- CAATTTTGGACTGGAGCTGC -3'
(R):5'- ATAGAGACAGCTGCCTTGC -3'

Sequencing Primer
(F):5'- CTGTACTGCCTGTATGAGACACAG -3'
(R):5'- TAAAGCAGTCCTGAGGTCCG -3'

Posted On

2016-03-17