Mutagenetix > Incidental Mutation

Incidental Mutation 'R8098:Nlrp6'

630316

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: 0.069) question?

Stock #

R8098 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140920902-140929192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140923255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 425 (V425M)

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: V395M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745
AA Change: V395M

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 damaging
Transcript: ENSMUST00000183845
AA Change: V395M

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

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745
AA Change: V395M

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: V425M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745
AA Change: V425M

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: 99.8%
10x: 99.3%
20x: 98.4%

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
1700011I03Rik	A	T	18: 57,667,331	I185L	probably benign	Het
3425401B19Rik	A	G	14: 32,662,661	L449P	probably damaging	Het
4931440F15Rik	A	G	11: 29,824,450	S336P	possibly damaging	Het
Abca15	A	G	7: 120,361,396	S694G	probably benign	Het
Abcc6	A	G	7: 45,996,665	L800P	probably damaging	Het
Adam15	T	A	3: 89,343,886	D504V	probably damaging	Het
Adnp	T	C	2: 168,182,532	T948A	probably benign	Het
Akap11	T	C	14: 78,512,922	D675G		Het
Atp13a3	A	C	16: 30,354,297	V254G	possibly damaging	Het
Atp1a1	A	G	3: 101,582,049	I749T	probably damaging	Het
B3glct	T	A	5: 149,750,500	Y369*	probably null	Het
Bms1	C	T	6: 118,384,258	R1204H	probably damaging	Het
Btla	T	A	16: 45,244,249	L188*	probably null	Het
Btn2a2	A	G	13: 23,481,888	V258A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1g	T	C	11: 94,416,512	H1782R	probably benign	Het
Calcoco1	T	C	15: 102,716,324	D172G	probably benign	Het
Ciart	G	A	3: 95,881,344	P61L	probably damaging	Het
Ckap4	A	G	10: 84,533,635	S78P	probably damaging	Het
Col6a3	A	T	1: 90,803,661	D1623E	probably benign	Het
Col7a1	A	G	9: 108,956,695	T411A	unknown	Het
Cpt1a	A	C	19: 3,370,849	I436L	probably benign	Het
Cyp2c23	T	A	19: 44,015,803	I173F	probably benign	Het
Dcun1d2	T	C	8: 13,261,396	T198A	probably benign	Het
Ddx50	A	C	10: 62,625,143		probably null	Het
Depdc1b	A	G	13: 108,324,059	T68A	probably damaging	Het
Dgkq	G	A	5: 108,652,468	R546W	probably damaging	Het
Dmbt1	G	A	7: 131,108,459	W1493*	probably null	Het
Dnah17	A	G	11: 118,050,367	S3219P	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Egf	T	A	3: 129,690,837	Y986F	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Ep400	A	T	5: 110,693,251	M1805K	unknown	Het
Exoc3	A	G	13: 74,172,152	M730T	probably benign	Het
Fbxl13	T	A	5: 21,620,718	M129L	probably benign	Het
Gins4	T	A	8: 23,237,021	M19L	probably benign	Het
Gm3238	T	C	10: 77,770,640	N229S	unknown	Het
Gpd2	T	A	2: 57,290,008	V89D	possibly damaging	Het
Hectd4	G	A	5: 121,321,398	V777I	possibly damaging	Het
Hgf	T	A	5: 16,561,061	V65E	probably benign	Het
Hnrnpdl	A	G	5: 100,037,920	S169P	probably benign	Het
Igfbp3	T	C	11: 7,210,104	D183G	possibly damaging	Het
Il16	A	G	7: 83,646,559	V1134A	probably damaging	Het
Kcnn4	A	G	7: 24,384,079	D395G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kif13a	T	C	13: 46,815,304	N354S	probably damaging	Het
Lrp1	C	T	10: 127,574,455	R1474Q	possibly damaging	Het
Map3k9	T	C	12: 81,734,114	Q424R	probably damaging	Het
Mkx	A	C	18: 6,992,784	S167A	possibly damaging	Het
Ms4a14	A	G	19: 11,304,615	F193S	possibly damaging	Het
Myo18a	A	T	11: 77,845,401	D1508V	probably damaging	Het
Nek4	T	A	14: 30,963,951	N273K	probably benign	Het
Nipal3	A	T	4: 135,452,398	V403D	possibly damaging	Het
Olfr1228	T	A	2: 89,249,308	M117L	possibly damaging	Het
Olfr127	A	G	17: 37,904,359	D271G	probably damaging	Het
Olfr1342	A	T	4: 118,690,209	V81E	possibly damaging	Het
Olfr825	T	C	10: 130,163,047	K93R	probably benign	Het
Otub1	A	T	19: 7,204,429	D27E	probably damaging	Het
Pcnx2	T	C	8: 125,768,301	D1607G	probably damaging	Het
Pde2a	A	G	7: 101,421,971	Y16C	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prph2	A	T	17: 46,919,966	M262L	probably benign	Het
Pxdn	C	T	12: 30,006,602	L1271F	probably damaging	Het
Rnf10	A	C	5: 115,251,379	I243S	probably damaging	Het
Samd9l	T	C	6: 3,375,549	I571V	probably damaging	Het
Scube1	C	T	15: 83,659,088	G183D	probably damaging	Het
Sidt2	A	G	9: 45,945,730	V426A	probably benign	Het
Slc20a1	T	C	2: 129,209,121	L566P	probably damaging	Het
Slc22a3	A	G	17: 12,423,732		probably null	Het
Snx11	G	T	11: 96,770,674	S168R	probably benign	Het
Snx5	T	C	2: 144,255,562	N218D	probably benign	Het
Snx7	A	T	3: 117,838,934	D169E	probably benign	Het
Soat1	A	G	1: 156,446,610	L77P	probably damaging	Het
Sucnr1	T	A	3: 60,086,741	V230E	probably damaging	Het
Supv3l1	T	C	10: 62,429,503	K753E	probably benign	Het
Tango6	T	G	8: 106,742,358	L829V	possibly damaging	Het
Tek	T	C	4: 94,827,670	V443A	probably benign	Het
Tet1	A	T	10: 62,879,080	L312Q	probably damaging	Het
Tgm1	A	T	14: 55,710,534	N269K	probably damaging	Het
Thrb	A	T	14: 18,008,645	D168V	probably damaging	Het
Tk2	C	T	8: 104,231,172	V181I	probably benign	Het
Tm6sf2	T	C	8: 70,074,322	L47P	probably damaging	Het
Tmcc3	T	A	10: 94,579,216	M291K	probably benign	Het
Tnfrsf21	A	G	17: 43,039,899	E318G	probably benign	Het
Ttc7	T	C	17: 87,334,328	V451A	probably benign	Het
Ugt2b36	A	T	5: 87,092,393	D44E	probably benign	Het
Usp17la	G	T	7: 104,860,931	V248L	probably damaging	Het
Utp20	A	C	10: 88,752,948	I2453S	probably benign	Het
Wdr91	A	T	6: 34,886,882	I566N	possibly damaging	Het
Zfp282	A	G	6: 47,890,718	D276G	probably benign	Het
Zfp866	T	C	8: 69,765,978	K331E	probably benign	Het
Zkscan17	A	T	11: 59,503,584	W64R	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
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
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'- AGCTCGCTTGCTAGTGACTAC -3'
(R):5'- TGATGATCCAGGATGCCCTC -3'

Sequencing Primer
(F):5'- TGACTACACGCCATGCCG -3'
(R):5'- CAGGATGCCCTCCCTGG -3'

Posted On

2020-06-30