Mutagenetix > Incidental Mutation

Incidental Mutation 'R2290:Nlrp6'

244270

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

040289-MU

Accession Numbers

Essential gene?

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

Stock #

R2290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140922163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 133 (G133S)

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: G103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: G103S

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 damaging
Transcript: ENSMUST00000183845
AA Change: G103S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: G103S

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: G133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: G133S

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (73/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,527,313	D62G	probably damaging	Het
Ambp	T	C	4: 63,143,687	Y335C	probably damaging	Het
Arid4a	G	T	12: 71,061,541	G40V	probably damaging	Het
Asb13	G	A	13: 3,649,418	G206D	probably damaging	Het
Ccdc7b	A	G	8: 129,131,106		probably benign	Het
Cdh15	A	T	8: 122,859,317	N145I	probably damaging	Het
Celsr3	T	C	9: 108,843,224	I2565T	probably damaging	Het
Cfap43	A	T	19: 47,773,135	M840K	probably damaging	Het
Clip4	T	C	17: 71,810,953	V331A	possibly damaging	Het
Cnnm1	A	G	19: 43,491,502	T829A	probably benign	Het
Col24a1	G	A	3: 145,513,195	G1457E	probably damaging	Het
D6Ertd527e	A	G	6: 87,111,545	N230S	unknown	Het
Dll1	T	C	17: 15,374,748	D89G	probably benign	Het
Dst	T	A	1: 34,229,200	V2901E	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Efl1	A	T	7: 82,777,670	K1125N	probably damaging	Het
Efr3a	T	A	15: 65,849,839	F437L	probably benign	Het
Eqtn	GTTCTTCTTC	GTTCTTC	4: 94,926,942		probably benign	Het
Ermp1	T	C	19: 29,623,778	D523G	probably damaging	Het
Gm38999	A	G	7: 43,427,699	E5G	probably benign	Het
Gm5828	C	T	1: 16,768,344		noncoding transcript	Het
Gnas	T	C	2: 174,300,010	F717L	probably benign	Het
H6pd	T	A	4: 149,981,881	S683C	probably damaging	Het
Il23r	G	A	6: 67,423,861	T495I	probably benign	Het
Itpr2	T	C	6: 146,422,828	N135D	probably damaging	Het
Kcns2	T	A	15: 34,838,509	L6Q	possibly damaging	Het
Khdrbs3	C	T	15: 69,029,761	R132C	probably damaging	Het
Kif2b	A	G	11: 91,575,696	V587A	probably benign	Het
Kng1	A	T	16: 23,079,125	H425L	possibly damaging	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lrrc8e	T	C	8: 4,231,770	M35T	probably damaging	Het
Med12l	A	G	3: 59,244,938	N1048S	probably damaging	Het
Mex3c	A	C	18: 73,590,693	N619T	probably damaging	Het
Mfsd4b1	G	A	10: 40,003,331	T190I	probably damaging	Het
Ncam1	A	G	9: 49,523,651		probably benign	Het
Olfr1385	A	G	11: 49,495,030	M166V	probably benign	Het
Olfr385	G	T	11: 73,588,919	A273D	probably benign	Het
Olfr957	A	G	9: 39,511,678	L14P	possibly damaging	Het
Olfr994	C	T	2: 85,430,200	V210M	possibly damaging	Het
Oplah	A	G	15: 76,302,725	V630A	probably benign	Het
Papd5	T	C	8: 88,251,975	S435P	probably damaging	Het
Pcnx2	A	T	8: 125,877,595		probably benign	Het
Pkhd1l1	A	T	15: 44,528,250	T1571S	probably benign	Het
Pramef12	T	A	4: 144,394,699	T252S	probably benign	Het
Pramef12	G	T	4: 144,395,122	H111N	probably benign	Het
Prr22	T	G	17: 56,771,884	F346V	probably benign	Het
Prr30	T	C	14: 101,198,775	N117S	possibly damaging	Het
Ptgfrn	A	G	3: 101,077,361	S172P	possibly damaging	Het
Ptprc	C	T	1: 138,111,188	V364I	probably benign	Het
Ptprz1	T	C	6: 23,000,991	S1027P	probably damaging	Het
Rinl	T	C	7: 28,792,271	V83A	probably benign	Het
Ros1	A	T	10: 52,118,381	S1268T	probably damaging	Het
Scly	T	C	1: 91,298,450		probably null	Het
Slc25a1	C	T	16: 17,925,848	V186M	possibly damaging	Het
Stk36	T	G	1: 74,626,144		probably benign	Het
Syn2	A	G	6: 115,274,229	T449A	possibly damaging	Het
Tecpr1	T	C	5: 144,214,063	D309G	probably damaging	Het
Tns2	T	A	15: 102,112,023	Y775N	probably damaging	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Ttl	G	A	2: 129,081,270	G177D	possibly damaging	Het
Twf1	A	G	15: 94,586,519	S41P	probably damaging	Het
Unc79	C	T	12: 103,146,366	T2174M	probably damaging	Het
Vangl2	T	A	1: 172,008,546	K340*	probably null	Het
Vmn2r72	T	A	7: 85,738,341	T672S	probably damaging	Het
Vwa7	A	G	17: 35,017,211	D47G	probably damaging	Het
Zc3h12d	A	G	10: 7,867,459	H331R	probably benign	Het
Zfa-ps	T	C	10: 52,545,016		noncoding transcript	Het
Zfp141	A	T	7: 42,475,225	C608S	probably damaging	Het
Zfp422	A	G	6: 116,626,642	I132T	possibly damaging	Het
Zfp652	A	G	11: 95,750,023	Y258C	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
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
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'- CTCCTTGGGAAGATCAACTTTGTC -3'
(R):5'- TGCCGCCACTATGGAATCAC -3'

Sequencing Primer
(F):5'- GGGAAGATCAACTTTGTCCACTC -3'
(R):5'- TGCCTGTCTAAATCTGGGC -3'

Posted On

2014-10-30