Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Nlrp6'

462262

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

044130-MU

Accession Numbers

Essential gene?

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

Stock #

R5936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140922812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 277 (L277*)

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: L247*

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: L247*

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: L247*

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: L247*

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: L277*

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: L277*

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,615,504		probably benign	Het
Acnat2	T	C	4: 49,383,362	T64A	probably benign	Het
Afap1	A	G	5: 35,974,396	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,965,933	D301G	probably damaging	Het
Alpk2	G	A	18: 65,350,520	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,282	D221G	probably benign	Het
Ano6	T	A	15: 95,972,601	L900H	probably damaging	Het
Asphd2	G	A	5: 112,385,757	R343*	probably null	Het
BC055324	T	G	1: 163,987,012	I121L	probably benign	Het
Brdt	A	G	5: 107,359,395	T554A	probably damaging	Het
Cacna1d	A	G	14: 30,171,314	V401A	possibly damaging	Het
Cbs	T	C	17: 31,625,094	T188A	probably damaging	Het
Cfap54	T	A	10: 92,962,412	T1662S	probably benign	Het
Chka	A	G	19: 3,884,580	I205V	probably benign	Het
Chsy1	T	A	7: 66,172,277	N753K	possibly damaging	Het
Cpz	A	G	5: 35,502,643	S553P	probably benign	Het
Crtac1	A	G	19: 42,323,837	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,125,808	I700F	probably damaging	Het
Ddx20	C	A	3: 105,680,587	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,825,524	Y67*	probably null	Het
Diaph3	G	T	14: 86,772,116	Q1076K	possibly damaging	Het
Dopey1	T	A	9: 86,536,512	L2037*	probably null	Het
Dst	G	T	1: 34,307,458	V5336L	probably damaging	Het
Etv1	C	A	12: 38,835,210	H248Q	probably damaging	Het
Fam214a	T	C	9: 75,009,304	L395P	probably benign	Het
Fcgbp	T	C	7: 28,086,692	V518A	probably damaging	Het
Fchsd2	T	C	7: 101,191,701	L139S	probably damaging	Het
Fer	A	T	17: 63,924,063	T270S	probably benign	Het
Fgd5	A	G	6: 91,987,911	E375G	probably damaging	Het
Gabarapl1	T	A	6: 129,538,603	I68N	probably benign	Het
Gopc	C	T	10: 52,346,199	V30M	probably damaging	Het
Hbp1	T	C	12: 31,937,096		probably null	Het
Helz2	A	G	2: 181,230,767	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,209,472	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,027,534	S44R	probably benign	Het
Kcnk10	G	T	12: 98,489,932	S213R	probably benign	Het
Kcnq3	T	A	15: 66,000,110	D570V	probably damaging	Het
Kif21a	A	G	15: 90,935,647	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,822,960	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,289,170	K59E	probably damaging	Het
Myo18a	A	G	11: 77,818,213	T484A	probably damaging	Het
Nr5a1	G	T	2: 38,701,778		probably benign	Het
Nsmaf	C	T	4: 6,421,017		probably benign	Het
Olfr1311	T	A	2: 112,021,587	H89L	probably benign	Het
Orc1	A	G	4: 108,601,983	T450A	probably benign	Het
Pacsin1	A	T	17: 27,704,997	I122F	probably benign	Het
Pced1b	T	A	15: 97,385,180	Y367N	possibly damaging	Het
Pced1b	T	A	15: 97,385,182	Y367*	probably null	Het
Pdpk1	A	G	17: 24,093,229	F281L	probably damaging	Het
Piwil1	T	C	5: 128,751,078	V714A	probably benign	Het
Plcd3	C	T	11: 103,078,347	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,756,454	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,388,449	T53P	probably damaging	Het
Ptch2	T	G	4: 117,108,294	F359V	probably benign	Het
R3hdm2	G	A	10: 127,471,812	S314N	probably damaging	Het
Rictor	A	T	15: 6,784,161	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,880,431	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,848,771	S129T	probably benign	Het
Scube3	A	T	17: 28,165,487	K585M	probably damaging	Het
Sgk3	C	T	1: 9,885,820		probably benign	Het
Skint6	C	T	4: 113,096,593	S458N	probably benign	Het
Slc25a54	A	G	3: 109,098,638	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,324,772	I690S	probably damaging	Het
Sqle	C	A	15: 59,330,829	A512D	probably damaging	Het
Tedc2	A	C	17: 24,216,341	L358R	probably damaging	Het
Tfr2	A	G	5: 137,587,006	S767G	probably benign	Het
Thoc5	A	G	11: 4,904,133	E27G	probably damaging	Het
Trappc8	A	T	18: 20,874,688	F123L	probably damaging	Het
Ube2cbp	C	T	9: 86,372,459	G323D	probably benign	Het
Unc13c	T	A	9: 73,578,492	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,114,317	H298L	probably benign	Het
Xpo4	A	T	14: 57,643,499	Y26N	probably benign	Het
Zer1	A	G	2: 30,107,667	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,224,988	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,562,253	E376G	possibly 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
R4962:Nlrp6	UTSW	7	140923584	missense	probably damaging	0.99
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
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'- TGATGAAGAGAGCTCGCAGC -3'
(R):5'- AGTCACTAGCAAGCGAGCTC -3'

Sequencing Primer
(F):5'- AGCCGCTGACCGTGGTG -3'
(R):5'- TAGCAAGCGAGCTCCTGGTAAC -3'

Posted On

2017-02-28