Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Nlrp6'

54410

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140500815-140509105 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 140503399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 502 (Q502*)

Ref Sequence

ENSEMBL: ENSMUSP00000139170 (fasta)

Gene Model

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

AlphaFold

Q91WS2

Predicted Effect

probably null
Transcript: ENSMUST00000106045
AA Change: Q472*

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: Q472*

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 null
Transcript: ENSMUST00000183845
AA Change: Q472*

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: Q472*

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 null
Transcript: ENSMUST00000184560
AA Change: Q502*

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: Q502*

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: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ampd3	C	A	7: 110,394,997 (GRCm39)	D315E	probably damaging	Het
Ampd3	T	A	7: 110,394,998 (GRCm39)	F316I	probably damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,100,588 (GRCm39)		probably null	Het
Bckdhb	T	G	9: 83,835,789 (GRCm39)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,100,699 (GRCm39)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cep128	T	G	12: 90,966,309 (GRCm39)		probably benign	Het
Cep72	A	T	13: 74,186,423 (GRCm39)	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,012,364 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah17	G	T	11: 117,981,575 (GRCm39)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,225,836 (GRCm39)	E383G	possibly damaging	Het
Dst	C	A	1: 34,329,437 (GRCm39)		probably null	Het
Edil3	T	C	13: 89,332,968 (GRCm39)	S375P	probably damaging	Het
Eme1	A	G	11: 94,540,908 (GRCm39)	C277R	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,420,953 (GRCm39)	V341M	probably benign	Het
Fgf14	A	G	14: 124,914,015 (GRCm39)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,631,220 (GRCm39)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,830,240 (GRCm39)	D265E	probably benign	Het
Gml2	T	C	15: 74,693,235 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,736,692 (GRCm39)	E1980*	probably null	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Heca	T	C	10: 17,791,039 (GRCm39)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm39)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,733,678 (GRCm39)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,597,030 (GRCm39)	G252D	probably benign	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,924,137 (GRCm39)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,316,587 (GRCm39)	N2131K	probably benign	Het
Magi3	C	G	3: 103,924,873 (GRCm39)	G1092A	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mrps26	G	T	2: 130,405,778 (GRCm39)	R27L	possibly damaging	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,344,908 (GRCm39)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Neb	A	T	2: 52,216,769 (GRCm39)	D135E	probably benign	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Obi1	T	C	14: 104,716,963 (GRCm39)	Y470C	probably damaging	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,330,246 (GRCm39)	P48L	probably benign	Het
Rab44	T	A	17: 29,366,317 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,329,720 (GRCm39)	I3031T	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 98,998,601 (GRCm39)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,799,346 (GRCm39)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spire1	T	C	18: 67,661,945 (GRCm39)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Susd2	C	T	10: 75,474,069 (GRCm39)	A509T	probably benign	Het
Sycp2	A	G	2: 178,024,197 (GRCm39)	F396L	probably damaging	Het
Syne2	T	C	12: 76,010,587 (GRCm39)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tab2	C	T	10: 7,795,883 (GRCm39)	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,148,317 (GRCm39)	T363A	probably damaging	Het
Terb2	A	G	2: 122,016,816 (GRCm39)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,510,552 (GRCm39)	E137G	probably benign	Het
Trim30d	T	A	7: 104,121,692 (GRCm39)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,054,669 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,617,667 (GRCm39)	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,626,529 (GRCm39)		probably null	Het
Ubap2	T	A	4: 41,218,319 (GRCm39)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,886,138 (GRCm39)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,965,615 (GRCm39)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,180,867 (GRCm39)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,297,705 (GRCm39)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,629,078 (GRCm39)		probably null	Het

Other mutations in Nlrp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Nlrp6	APN	7	140,503,037 (GRCm39)	missense	probably damaging	1.00
IGL01066:Nlrp6	APN	7	140,501,709 (GRCm39)	missense	possibly damaging	0.88
IGL01966:Nlrp6	APN	7	140,505,103 (GRCm39)	missense	probably damaging	1.00
IGL02625:Nlrp6	APN	7	140,503,413 (GRCm39)	missense	probably benign	0.00
IGL02792:Nlrp6	APN	7	140,502,348 (GRCm39)	missense	probably damaging	0.97
IGL02813:Nlrp6	APN	7	140,503,333 (GRCm39)	missense	possibly damaging	0.86
IGL03140:Nlrp6	APN	7	140,507,400 (GRCm39)	missense	probably benign	0.01
R1404:Nlrp6	UTSW	7	140,504,026 (GRCm39)	small deletion	probably benign
R1404:Nlrp6	UTSW	7	140,504,026 (GRCm39)	small deletion	probably benign
R1472:Nlrp6	UTSW	7	140,503,408 (GRCm39)	missense	probably damaging	1.00
R1587:Nlrp6	UTSW	7	140,502,959 (GRCm39)	missense	probably damaging	1.00
R1843:Nlrp6	UTSW	7	140,503,006 (GRCm39)	missense	probably damaging	1.00
R1959:Nlrp6	UTSW	7	140,504,026 (GRCm39)	small deletion	probably benign
R2097:Nlrp6	UTSW	7	140,503,117 (GRCm39)	missense	probably damaging	1.00
R2118:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2119:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2120:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2121:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2290:Nlrp6	UTSW	7	140,502,076 (GRCm39)	missense	probably damaging	1.00
R3546:Nlrp6	UTSW	7	140,506,682 (GRCm39)	missense	probably benign	0.00
R3547:Nlrp6	UTSW	7	140,506,682 (GRCm39)	missense	probably benign	0.00
R3970:Nlrp6	UTSW	7	140,501,568 (GRCm39)	missense	probably damaging	1.00
R4483:Nlrp6	UTSW	7	140,501,694 (GRCm39)	missense	probably damaging	1.00
R4484:Nlrp6	UTSW	7	140,501,694 (GRCm39)	missense	probably damaging	1.00
R4869:Nlrp6	UTSW	7	140,504,006 (GRCm39)	missense	probably damaging	1.00
R4962:Nlrp6	UTSW	7	140,503,497 (GRCm39)	missense	probably damaging	0.99
R5436:Nlrp6	UTSW	7	140,502,630 (GRCm39)	nonsense	probably null
R5442:Nlrp6	UTSW	7	140,502,103 (GRCm39)	missense	probably benign	0.01
R5924:Nlrp6	UTSW	7	140,503,403 (GRCm39)	missense	probably damaging	1.00
R5936:Nlrp6	UTSW	7	140,502,725 (GRCm39)	nonsense	probably null
R6124:Nlrp6	UTSW	7	140,503,160 (GRCm39)	missense	probably damaging	1.00
R6455:Nlrp6	UTSW	7	140,507,422 (GRCm39)	missense	possibly damaging	0.65
R6480:Nlrp6	UTSW	7	140,507,356 (GRCm39)	missense	possibly damaging	0.93
R6873:Nlrp6	UTSW	7	140,503,433 (GRCm39)	missense	probably benign	0.01
R7061:Nlrp6	UTSW	7	140,502,780 (GRCm39)	missense	probably benign	0.36
R7350:Nlrp6	UTSW	7	140,501,191 (GRCm39)	start gained	probably benign
R7532:Nlrp6	UTSW	7	140,505,097 (GRCm39)	missense	probably benign	0.00
R7752:Nlrp6	UTSW	7	140,507,353 (GRCm39)	missense	possibly damaging	0.92
R7901:Nlrp6	UTSW	7	140,507,353 (GRCm39)	missense	possibly damaging	0.92
R8098:Nlrp6	UTSW	7	140,503,168 (GRCm39)	missense	probably damaging	1.00
R8381:Nlrp6	UTSW	7	140,503,754 (GRCm39)	missense	possibly damaging	0.47
R8513:Nlrp6	UTSW	7	140,502,743 (GRCm39)	missense	possibly damaging	0.83
R9114:Nlrp6	UTSW	7	140,506,332 (GRCm39)	missense	probably damaging	1.00
V7732:Nlrp6	UTSW	7	140,506,561 (GRCm39)	splice site	probably benign
Z1176:Nlrp6	UTSW	7	140,502,634 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACGAGACGCTGTTTGCACTG -3'
(R):5'- TTCCAATGTCACGAAGCCCCTCTG -3'

Sequencing Primer
(F):5'- AAGACCACTACTTCTGTGTACCTG -3'
(R):5'- CCTCTGTATTTAGCAGGCCAAAG -3'

Posted On

2013-07-11