Mutagenetix > Incidental Mutation

Incidental Mutation 'R4962:Nlrp6'

381835

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

042559-MU

Accession Numbers

Essential gene?

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

Stock #

R4962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140923584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 534 (L534F)

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: L504F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: L504F

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: L504F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: L504F

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: L534F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: L534F

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,472,808	F317L	possibly damaging	Het
Abcc4	A	G	14: 118,668,399	I85T	probably benign	Het
Acoxl	G	T	2: 128,075,890	C498F	probably damaging	Het
Akap13	C	T	7: 75,749,430	T2752I	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ap2a2	T	G	7: 141,630,148	F836C	probably damaging	Het
Atp2c1	A	G	9: 105,442,950	V404A	probably benign	Het
Atp7b	G	T	8: 22,020,885	A415E	probably damaging	Het
Babam2	A	T	5: 31,785,583	I71L	possibly damaging	Het
Bean1	A	G	8: 104,216,974	T54A	probably damaging	Het
Cacna1b	T	A	2: 24,618,318	I1816F	probably damaging	Het
Cacna1b	C	T	2: 24,657,366	G1202D	probably damaging	Het
Casp8ap2	A	G	4: 32,640,554	E536G	probably damaging	Het
Cfap57	A	G	4: 118,613,065	V206A	probably benign	Het
Clca2	A	T	3: 145,077,879	D658E	probably damaging	Het
Cwc22	A	T	2: 77,896,309	S809T	probably benign	Het
Cyp2c54	C	T	19: 40,072,141	R132Q	possibly damaging	Het
Ddx20	A	T	3: 105,680,605	D386E	possibly damaging	Het
Ddx50	T	C	10: 62,642,853	T185A	probably damaging	Het
Decr1	G	A	4: 15,930,976	R119*	probably null	Het
Dennd4a	T	C	9: 64,906,003	S1415P	probably benign	Het
Dnah12	A	T	14: 26,716,700	I495L	probably benign	Het
Dnah2	G	A	11: 69,455,973	Q2596*	probably null	Het
Dnajb13	A	G	7: 100,507,500	L123S	probably benign	Het
Elavl3	G	A	9: 22,036,811	P19L	probably benign	Het
Fer1l6	T	C	15: 58,571,401	S518P	probably benign	Het
Fgd3	T	C	13: 49,266,629	S591G	probably benign	Het
Galnt18	C	A	7: 111,472,064	R566L	probably benign	Het
Galnt6	A	T	15: 100,696,574	Y525*	probably null	Het
Gm10036	A	T	18: 15,833,302	Y170F	probably benign	Het
Hacd2	A	G	16: 35,022,551	D24G	unknown	Het
Idh3a	T	C	9: 54,596,041	M128T	possibly damaging	Het
Ido1	C	T	8: 24,584,549	M359I	probably benign	Het
Ikbkb	T	C	8: 22,681,677	T185A	probably damaging	Het
Insl6	C	T	19: 29,321,619	G131D	probably damaging	Het
Irgm1	A	C	11: 48,866,332	S217R	possibly damaging	Het
Itga11	T	A	9: 62,761,568	Y702*	probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kansl2	T	C	15: 98,531,843	M103V	probably benign	Het
Kcnq2	T	C	2: 181,112,043	N258S	possibly damaging	Het
Kdm5d	A	T	Y: 940,624	D1045V	probably damaging	Het
Lats2	A	G	14: 57,699,592	L480P	probably damaging	Het
Lin28b	T	A	10: 45,420,640	K87N	possibly damaging	Het
Lpgat1	T	A	1: 191,719,570	W103R	probably damaging	Het
Lpl	G	T	8: 68,894,693	G166C	probably damaging	Het
Ly75	A	T	2: 60,352,125	Y569N	probably damaging	Het
Mcm8	A	T	2: 132,838,769	E564D	probably damaging	Het
Me2	G	T	18: 73,785,776	N411K	probably damaging	Het
Mn1	A	G	5: 111,454,786	T1297A	possibly damaging	Het
Mphosph8	T	A	14: 56,678,589	F447L	probably benign	Het
Nacad	T	A	11: 6,599,169	D1294V	probably damaging	Het
Neu3	A	T	7: 99,823,408	F41I	probably damaging	Het
Nrap	A	G	19: 56,378,143	M338T	probably damaging	Het
Nuak1	T	C	10: 84,375,115	K370E	probably damaging	Het
Olfr1151	A	G	2: 87,857,288	T38A	probably benign	Het
Olfr1425	T	A	19: 12,074,275	D119V	probably damaging	Het
Olfr479	T	A	7: 108,055,440	C153S	probably benign	Het
Olfr805	C	T	10: 129,722,723	V274M	probably damaging	Het
P3h3	T	C	6: 124,841,773	S701G	probably benign	Het
Pdss2	T	C	10: 43,298,912	M138T	possibly damaging	Het
Piezo1	C	T	8: 122,486,481	E1848K	probably benign	Het
Prmt3	T	G	7: 49,826,809	S389A	probably benign	Het
Prrxl1	G	T	14: 32,647,144		probably benign	Het
Prune2	T	A	19: 17,122,273	F1714I	probably benign	Het
Ptgis	A	G	2: 167,225,274		probably null	Het
Ptpn20	T	C	14: 33,614,459	V85A	probably benign	Het
Rabepk	A	T	2: 34,780,657	Y264N	probably damaging	Het
Ralgapa2	A	T	2: 146,434,834	C495*	probably null	Het
Satb2	A	G	1: 56,891,168	I232T	probably benign	Het
Selenbp2	A	T	3: 94,703,549	L307F	probably damaging	Het
Sgpl1	T	G	10: 61,114,084	Y112S	probably damaging	Het
Slitrk5	T	C	14: 111,681,247	S768P	probably benign	Het
Smc3	T	A	19: 53,631,517	Y615N	probably damaging	Het
Spag17	A	G	3: 100,027,623	N715S	probably benign	Het
Spats2	A	G	15: 99,212,276	E518G	probably benign	Het
Spats2l	A	G	1: 57,885,824	H127R	possibly damaging	Het
Tenm3	T	A	8: 48,278,961	K1287*	probably null	Het
Thoc1	T	A	18: 9,962,387	S91T	probably benign	Het
Thoc6	C	T	17: 23,669,937	G166S	probably damaging	Het
Tmem107	C	A	11: 69,071,261	T42N	possibly damaging	Het
Tmprss11c	A	G	5: 86,237,710	I288T	probably damaging	Het
Tnrc18	A	G	5: 142,739,493	F1827S	unknown	Het
Trmt112	C	A	19: 6,910,198	T5N	probably damaging	Het
Trp53bp1	A	T	2: 121,270,546	M57K	probably benign	Het
Ttbk2	C	A	2: 120,745,150	Q1115H	probably damaging	Het
Ttn	C	A	2: 76,729,645	E27725*	probably null	Het
Ttn	A	G	2: 76,944,109	M2151T	probably damaging	Het
Usp9y	A	T	Y: 1,384,336	D727E	probably damaging	Het
Vps13c	A	G	9: 67,873,891	T221A	probably damaging	Het
Zbtb20	A	G	16: 43,618,692	D725G	probably damaging	Het
Zfp341	A	T	2: 154,626,814	I126F	possibly damaging	Het
Zfyve16	C	T	13: 92,513,894	A861T	probably 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
R4869:Nlrp6	UTSW	7	140924093	missense	probably damaging	1.00
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'- AGAGCTGAGAACGCTGTGTC -3'
(R):5'- TTTCACATGATCTGGCACCACAC -3'

Sequencing Primer
(F):5'- AGAACGCTGTGTCGCCTG -3'
(R):5'- CAGCCAAAATGGTTTCCAATGTC -3'

Posted On

2016-04-27