Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Nlrp6'

231198

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

040122-MU

Accession Numbers

Essential gene?

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

Stock #

R2118 (G1)

Quality Score

225

Status

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: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,331,190 (GRCm39)	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Abi3bp	T	C	16: 56,298,227 (GRCm39)		probably benign	Het
Adamts8	T	C	9: 30,854,359 (GRCm39)	F76S	probably damaging	Het
Agpat3	T	C	10: 78,113,918 (GRCm39)	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
AI593442	T	C	9: 52,588,993 (GRCm39)	T195A	probably benign	Het
Aipl1	A	T	11: 71,920,195 (GRCm39)	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Arg1	T	C	10: 24,796,621 (GRCm39)	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687 (GRCm39)	T27S	probably benign	Het
Ash1l	C	G	3: 88,892,602 (GRCm39)	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,621,174 (GRCm39)	V15A	probably benign	Het
Cdc20b	A	G	13: 113,215,232 (GRCm39)	I267V	probably benign	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cenpe	T	A	3: 134,952,645 (GRCm39)	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,758,877 (GRCm39)	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,478,642 (GRCm39)	Q243E	probably benign	Het
Cnih2	C	A	19: 5,148,276 (GRCm39)	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,079,483 (GRCm39)	M1240I	probably benign	Het
Cntrl	T	C	2: 35,051,977 (GRCm39)	S1050P	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dbx2	A	C	15: 95,522,681 (GRCm39)	L342R	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnajb2	T	C	1: 75,214,121 (GRCm39)	W30R	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
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancd2	A	G	6: 113,537,035 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,692 (GRCm39)		probably benign	Het
Gimap4	G	T	6: 48,667,905 (GRCm39)	C92F	probably benign	Het
Gm10033	A	C	8: 69,824,942 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,199 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,680 (GRCm39)	V186A	probably damaging	Het
Gnptab	T	C	10: 88,272,260 (GRCm39)	S967P	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints12	T	C	3: 132,814,921 (GRCm39)	V376A	probably damaging	Het
Kalrn	C	T	16: 34,152,600 (GRCm39)	S309N	possibly damaging	Het
Kel	T	A	6: 41,666,234 (GRCm39)	I471L	probably benign	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Ksr1	A	T	11: 78,936,019 (GRCm39)	M77K	probably benign	Het
Leo1	T	A	9: 75,353,094 (GRCm39)	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mast4	A	G	13: 102,890,713 (GRCm39)	V855A	probably damaging	Het
Mdga2	T	A	12: 66,915,526 (GRCm39)	E43V	probably damaging	Het
Mmaa	A	T	8: 79,994,588 (GRCm39)	L406*	probably null	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Nlrp12	A	T	7: 3,290,079 (GRCm39)	N144K	probably damaging	Het
Or4f61	C	A	2: 111,922,675 (GRCm39)	V124L	probably benign	Het
Or5h18	A	G	16: 58,848,178 (GRCm39)	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pappa2	T	C	1: 158,684,836 (GRCm39)	T768A	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,105,346 (GRCm39)	M373V	possibly damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg16	C	A	7: 16,824,548 (GRCm39)	H111N	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
Rai14	A	G	15: 10,575,252 (GRCm39)	F569L	probably benign	Het
Rbpms2	T	A	9: 65,558,229 (GRCm39)	D116E	probably damaging	Het
Rgs20	A	G	1: 4,987,113 (GRCm39)		probably benign	Het
Rnf114	T	C	2: 167,352,803 (GRCm39)	L101P	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,400,679 (GRCm39)	V181A	probably damaging	Het
Spag17	A	G	3: 99,956,556 (GRCm39)	E884G	possibly damaging	Het
Sycn	T	C	7: 28,240,713 (GRCm39)	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,780,129 (GRCm39)	I89K	probably damaging	Het
Tep1	C	A	14: 51,093,029 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,410,569 (GRCm39)		probably benign	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Vmn1r200	C	T	13: 22,579,353 (GRCm39)	T43I	probably damaging	Het
Wars2	T	C	3: 99,123,883 (GRCm39)	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp729a	A	T	13: 67,769,613 (GRCm39)		probably null	Het
Zfp759	C	A	13: 67,287,578 (GRCm39)		probably benign	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
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'- ATGACAGATCAGCCACTGGG -3'
(R):5'- AGAGGTTCCACAATGACGCC -3'

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

Posted On

2014-09-18