Mutagenetix > Incidental Mutation

Incidental Mutation 'R8513:Nlrp6'

655984

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 140922830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 283 (D283A)

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: D253A

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: D253A

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

probably benign
Transcript: ENSMUST00000183845
AA Change: D253A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: D253A

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: D283A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: D283A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoe	C	A	7: 19,696,640	G226W	probably damaging	Het
Armc9	T	C	1: 86,162,683	F67L	probably damaging	Het
Bsn	T	C	9: 108,114,510	I1348V	possibly damaging	Het
Cdc73	C	A	1: 143,617,391	E402*	probably null	Het
Coro2a	ACCAGAAGAGCCATCCAG	ACCAG	4: 46,544,117		probably null	Het
Cpt2	G	A	4: 107,906,926	A547V	probably damaging	Het
Cpxm2	A	T	7: 132,143,702	H131Q	probably benign	Het
Ctdp1	G	A	18: 80,449,463	L606F	possibly damaging	Het
Dot1l	T	C	10: 80,791,426	S1494P	possibly damaging	Het
Evpl	C	T	11: 116,229,744		probably null	Het
Fgd3	T	C	13: 49,263,924	T688A	probably benign	Het
Galnt3	A	T	2: 66,093,720	C401*	probably null	Het
Gml2	C	G	15: 74,824,155	P133A	probably damaging	Het
Hepacam	A	G	9: 37,380,634	E86G	probably benign	Het
Ilf3	A	G	9: 21,388,636	E39G	possibly damaging	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Kiz	A	G	2: 146,870,764		probably null	Het
Myo1e	T	A	9: 70,320,088	L147H	probably damaging	Het
Naa15	T	A	3: 51,460,023	V539E	probably damaging	Het
Ntf5	A	G	7: 45,415,755	T104A	probably damaging	Het
Olfr388-ps1	A	G	11: 73,724,322	V234A	unknown	Het
Pacsin3	A	C	2: 91,262,805	N214T	probably benign	Het
Pcdha6	T	C	18: 36,969,176	I474T	probably damaging	Het
Pcdhgb1	A	G	18: 37,680,528	Y24C	probably damaging	Het
Pde2a	A	T	7: 101,509,765	N749Y	probably damaging	Het
Ptpn3	G	A	4: 57,270,085	R26*	probably null	Het
Rab7	T	C	6: 88,004,268	Y144C	probably benign	Het
Ralgps1	T	C	2: 33,336,614	S22G	probably damaging	Het
Setdb2	G	A	14: 59,402,390	T668M	probably damaging	Het
Slit2	T	A	5: 48,224,708	C510*	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spata2l	T	C	8: 123,233,699	M284V	probably benign	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
Stab1	C	A	14: 31,149,790		probably null	Het
Tmem184b	A	T	15: 79,369,923	S142T	probably benign	Het
Tmem201	A	T	4: 149,727,923	M312K	probably damaging	Het
Tpp1	A	T	7: 105,749,579	D214E	possibly damaging	Het
Trav7-2	C	T	14: 53,391,021	S72F	probably damaging	Het
Vmn1r37	A	G	6: 66,731,836	T149A	probably benign	Het
Zfp512	T	C	5: 31,480,081	S505P	probably damaging	Het
Zfp942	T	C	17: 21,928,301	D449G	probably benign	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
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
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'- TAGTCACTAGCAAGCGAGCTCC -3'

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

Posted On

2020-10-20