Mutagenetix > Incidental Mutation

Incidental Mutation 'R9114:Nlrp6'

692417

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9114 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140926419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 758 (S758P)

Ref Sequence

ENSEMBL: ENSMUSP00000139170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106045] [ENSMUST00000183845] [ENSMUST00000184560]

AlphaFold

Q91WS2

Predicted Effect

probably damaging
Transcript: ENSMUST00000106045
AA Change: S741P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: S741P

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

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: S728P

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: S758P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: S758P

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: 99.6%
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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,738,702	L1027*	probably null	Het
Actl11	T	A	9: 107,931,310	M944K	possibly damaging	Het
Afap1l2	T	C	19: 56,917,995	K491E	probably damaging	Het
Ahr	A	T	12: 35,511,165	D150E	probably damaging	Het
Arhgef1	T	A	7: 24,907,879	L17Q	probably damaging	Het
Bysl	A	G	17: 47,604,317	S169P		Het
C4b	A	T	17: 34,729,430	F1610I	probably damaging	Het
Chtf8	C	A	8: 106,885,849	A153S	probably benign	Het
Ciapin1	C	T	8: 94,831,772		probably null	Het
Cnnm1	A	G	19: 43,440,956	E171G	possibly damaging	Het
Crybb3	T	C	5: 113,077,541	N155S	probably benign	Het
Dclk3	T	A	9: 111,488,615	M773K	probably benign	Het
Ddx18	A	T	1: 121,561,538	V260D	probably damaging	Het
Dmxl2	T	A	9: 54,400,037	N2216Y		Het
Epn2	T	C	11: 61,546,620	E42G	probably damaging	Het
Esrrg	C	A	1: 188,146,408	P229T	probably benign	Het
Esrrg	C	A	1: 188,146,409	P229Q	possibly damaging	Het
Ethe1	G	T	7: 24,606,218	R130L	probably benign	Het
Fgl2	G	A	5: 21,375,365	C235Y	probably damaging	Het
Fmnl1	C	T	11: 103,196,501	T890M	unknown	Het
Fsip2	C	G	2: 82,976,957	P1207A	probably benign	Het
Gc	C	T	5: 89,445,306	D85N	possibly damaging	Het
Gfi1	G	A	5: 107,721,504	R287W	probably damaging	Het
Gm3460	T	C	14: 6,619,567		probably null	Het
Hapln3	A	G	7: 79,121,964	F59S	probably benign	Het
Il24	G	A	1: 130,885,746	T38I	possibly damaging	Het
Izumo1	A	G	7: 45,627,159	D382G	probably benign	Het
Kdm5a	T	A	6: 120,405,926	Y739*	probably null	Het
Kif2b	T	A	11: 91,575,712	I582F	possibly damaging	Het
Klhdc1	A	G	12: 69,242,009	Y31C	probably damaging	Het
Lama1	G	A	17: 67,821,674	E3009K		Het
Mad2l1bp	G	A	17: 46,148,032	R191C	probably damaging	Het
Mark1	A	C	1: 184,912,064	S468A	probably damaging	Het
Mknk2	T	A	10: 80,668,989	N236Y	probably damaging	Het
Muc2	T	A	7: 141,701,414	C251*	probably null	Het
Nacad	T	C	11: 6,602,252	D313G	probably damaging	Het
Neb	G	T	2: 52,209,587	D4750E	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr61	A	C	7: 140,638,369	I223L	probably benign	Het
Olfr66	T	C	7: 103,881,362	T294A	possibly damaging	Het
Olfr918	A	G	9: 38,672,596	F283L	probably benign	Het
Oxtr	A	G	6: 112,489,520	V93A	probably damaging	Het
Pbx3	C	A	2: 34,213,259	D234Y	probably damaging	Het
Pde4b	A	T	4: 102,602,629	T554S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pid1	A	T	1: 84,038,234	Y151N	probably damaging	Het
Plcd4	A	G	1: 74,552,148	E234G	possibly damaging	Het
Pou6f1	A	G	15: 100,580,908	V373A	probably benign	Het
Ppp1r12c	T	C	7: 4,482,793	K685E	possibly damaging	Het
Rnf34	T	A	5: 122,861,894	V71D	probably damaging	Het
Rpap2	T	G	5: 107,598,290	H11Q	possibly damaging	Het
Skint2	A	G	4: 112,639,637	T247A	probably benign	Het
Stat5b	T	A	11: 100,801,524	N145Y	probably damaging	Het
Sv2b	A	G	7: 75,206,269	L91P	probably damaging	Het
Syt1	A	G	10: 108,504,515	I314T	probably damaging	Het
Tlk1	A	T	2: 70,742,158	N355K	probably benign	Het
Tnc	C	A	4: 63,972,736	M1636I	probably benign	Het
Trank1	C	A	9: 111,333,775	A34D	probably damaging	Het
Unc13c	A	G	9: 73,812,383	I1001T	probably benign	Het
Vdr	T	C	15: 97,867,255	D201G	probably benign	Het
Vmn2r115	A	T	17: 23,345,333	I160L	probably benign	Het
Wdr81	C	A	11: 75,444,424	R1772L	probably damaging	Het
Zfp457	T	C	13: 67,294,004	D169G	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
R8513:Nlrp6	UTSW	7	140922830	missense	possibly damaging	0.83
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'- TGACTGCTCAGCTATTGGGG -3'
(R):5'- TCACCTGAGTGTCTTCACCTGG -3'

Sequencing Primer
(F):5'- ACTGCTCAGCTATTGGGGATGAC -3'
(R):5'- GAGTGTCTTCACCTGGCACTTG -3'

Posted On

2021-12-30