Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Nlrp6'

231289

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

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

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140500815-140509105 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140506357 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	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
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'- ATGACAGATCAGCCACTGGG -3'
(R):5'- AGCACGATGACCAAGTAATTGATC -3'

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

Posted On

2014-09-18