Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Nlrp6'

519548

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

044591-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140500815-140509105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140507422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 896 (I896K)

Ref Sequence

ENSEMBL: ENSMUSP00000139170 (fasta)

Gene Model

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

AlphaFold

Q91WS2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106045
AA Change: I879K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: I879K

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: I866K

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: I866K

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

possibly damaging
Transcript: ENSMUST00000184560
AA Change: I896K

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: I896K

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Epn2	A	T	11: 61,424,467 (GRCm39)	M250K	probably damaging	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239 (GRCm39)	R708G	probably benign	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Myog	G	A	1: 134,218,226 (GRCm39)	D145N	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Ptpn13	T	C	5: 103,689,150 (GRCm39)	M981T	probably benign	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,789,514 (GRCm39)	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tlr9	T	A	9: 106,101,198 (GRCm39)	L163H	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	probably damaging	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
R0608:Nlrp6	UTSW	7	140,503,399 (GRCm39)	nonsense	probably null
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
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'- GATTCCAACTGACTGTCTTCTGG -3'
(R):5'- TGAAAGACTTGCCTGGAGGG -3'

Sequencing Primer
(F):5'- TTGTCAAATCCTAATCAGACAGCTC -3'
(R):5'- GGGAGAAGCTGGCATCTTC -3'

Posted On

2018-05-24