Mutagenetix > Incidental Mutation

Incidental Mutation 'R1959:Nlrp6'

218160

Institutional Source

Beutler Lab

Gene Symbol

Nlrp6

Ensembl Gene

ENSMUSG00000038745

Gene Name

NLR family, pyrin domain containing 6

Synonyms

Nalp6

MMRRC Submission

039973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1959 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

140500815-140509105 bp(+) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GAGAAGAAGAAGAAGAAGAAGA to GAGAAGAAGAAGAAGAAGA at 140504026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139170 (fasta)

Gene Model

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

AlphaFold

Q91WS2

Predicted Effect

probably benign
Transcript: ENSMUST00000106045

SMART Domains

Protein: ENSMUSP00000101660
Gene: ENSMUSG00000038745

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 benign
Transcript: ENSMUST00000183845

SMART Domains

Protein: ENSMUSP00000139357
Gene: ENSMUSG00000038745

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 benign
Transcript: ENSMUST00000184560

SMART Domains

Protein: ENSMUSP00000139170
Gene: ENSMUSG00000038745

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Aco1	T	C	4: 40,167,193 (GRCm39)		probably null	Het
Adap1	A	G	5: 139,259,096 (GRCm39)	Y364H	probably benign	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgb	A	T	10: 10,270,993 (GRCm39)	D883E	probably benign	Het
Anapc1	C	A	2: 128,475,335 (GRCm39)	R1381S	probably benign	Het
Aoah	A	G	13: 20,978,564 (GRCm39)	M1V	probably null	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arhgap10	A	G	8: 78,136,255 (GRCm39)	F319S	possibly damaging	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cabin1	A	T	10: 75,570,924 (GRCm39)	V784E	possibly damaging	Het
Card9	T	A	2: 26,244,885 (GRCm39)		probably null	Het
Cdk18	A	G	1: 132,045,559 (GRCm39)	I238T	possibly damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Commd3	A	T	2: 18,678,774 (GRCm39)	I70F	probably benign	Het
Cspg5	G	A	9: 110,080,094 (GRCm39)	V340M	probably damaging	Het
Cyb5r4	G	A	9: 86,937,902 (GRCm39)	S307N	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Ddx11	A	G	17: 66,437,723 (GRCm39)	M150V	probably benign	Het
Dennd4b	A	G	3: 90,176,080 (GRCm39)	Y190C	probably damaging	Het
Det1	A	G	7: 78,493,191 (GRCm39)	V271A	probably benign	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dhx36	T	C	3: 62,386,806 (GRCm39)	S649G	probably benign	Het
Dlgap5	A	G	14: 47,653,843 (GRCm39)	I62T	possibly damaging	Het
Dmgdh	A	G	13: 93,857,067 (GRCm39)	M724V	probably benign	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dock4	A	T	12: 40,760,797 (GRCm39)	K495M	probably damaging	Het
Dse	A	G	10: 34,036,202 (GRCm39)	Y225H	probably damaging	Het
Emx1	G	A	6: 85,180,916 (GRCm39)	R211K	probably damaging	Het
Ergic2	A	G	6: 148,100,852 (GRCm39)		probably null	Het
Fbxo27	G	A	7: 28,397,797 (GRCm39)	C277Y	possibly damaging	Het
Fcrl1	T	C	3: 87,283,827 (GRCm39)	I9T	possibly damaging	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Flnb	C	T	14: 7,884,735 (GRCm38)	Q445*	probably null	Het
Flrt2	G	A	12: 95,747,074 (GRCm39)	V471I	probably benign	Het
Frmd4a	G	A	2: 4,539,997 (GRCm39)	V210M	probably damaging	Het
Fsip2	A	G	2: 82,821,894 (GRCm39)	K5876E	probably benign	Het
Galnt10	T	C	11: 57,656,443 (GRCm39)	L209P	probably damaging	Het
Gata5	A	T	2: 179,968,729 (GRCm39)	S382T	possibly damaging	Het
Glt6d1	C	A	2: 25,684,425 (GRCm39)	V194L	probably damaging	Het
Gm10803	T	G	2: 93,394,288 (GRCm39)	V20G	unknown	Het
Gm44511	T	G	6: 128,797,234 (GRCm39)	T52P	probably damaging	Het
Gpat4	A	T	8: 23,672,952 (GRCm39)	L88Q	possibly damaging	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Hivep2	A	T	10: 14,008,453 (GRCm39)	I1684F	probably benign	Het
Hmcn1	T	C	1: 150,525,427 (GRCm39)	T3366A	probably benign	Het
Hnmt	A	G	2: 23,893,894 (GRCm39)	V200A	possibly damaging	Het
Hps6	A	T	19: 45,992,774 (GRCm39)	H237L	probably benign	Het
Hspg2	C	T	4: 137,292,206 (GRCm39)	P4033S	probably damaging	Het
Ift70b	C	T	2: 75,767,443 (GRCm39)	E437K	probably benign	Het
Irf9	T	A	14: 55,845,174 (GRCm39)	S297T	possibly damaging	Het
Kdm3b	T	C	18: 34,945,448 (GRCm39)	V753A	possibly damaging	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Krtap4-16	A	G	11: 99,742,373 (GRCm39)	V9A	unknown	Het
Lama2	G	T	10: 27,298,614 (GRCm39)	P161T	probably damaging	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Lvrn	T	A	18: 47,027,784 (GRCm39)	S866R	probably damaging	Het
Med13	A	G	11: 86,189,805 (GRCm39)	Y1035H	probably damaging	Het
Mertk	T	A	2: 128,601,010 (GRCm39)	N331K	probably damaging	Het
Mios	T	A	6: 8,215,437 (GRCm39)	F211Y	probably benign	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mphosph9	A	T	5: 124,453,764 (GRCm39)	S183T	possibly damaging	Het
Mrto4	A	T	4: 139,076,949 (GRCm39)	I56N	probably damaging	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Ncoa2	A	G	1: 13,230,476 (GRCm39)	Y1023H	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nr2f1	T	C	13: 78,337,935 (GRCm39)	T237A	probably damaging	Het
Nup205	C	A	6: 35,210,301 (GRCm39)	Q1621K	probably benign	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Nxpe2	T	A	9: 48,231,026 (GRCm39)	S448C	probably benign	Het
Ogdh	T	A	11: 6,296,638 (GRCm39)	C498S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or14a256	A	T	7: 86,265,639 (GRCm39)	F71L	probably benign	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or2d2	A	T	7: 106,727,717 (GRCm39)	D294E	possibly damaging	Het
Or5ak24	T	C	2: 85,260,963 (GRCm39)	D70G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6p1	A	T	1: 174,258,471 (GRCm39)	K159M	probably damaging	Het
Or8s8	T	C	15: 98,354,634 (GRCm39)	S148P	probably damaging	Het
Pcdhb9	T	A	18: 37,536,369 (GRCm39)	Y788N	probably damaging	Het
Pcsk5	T	C	19: 17,410,782 (GRCm39)	D1870G	unknown	Het
Pde6g	A	G	11: 120,338,962 (GRCm39)	L76P	probably damaging	Het
Peak1	A	T	9: 56,114,073 (GRCm39)	Y593N	probably damaging	Het
Pfas	C	T	11: 68,885,110 (GRCm39)	G16R	probably damaging	Het
Pkd1l2	A	T	8: 117,769,970 (GRCm39)		probably null	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Ptpru	T	A	4: 131,530,788 (GRCm39)	I489F	probably damaging	Het
Rere	T	G	4: 150,553,247 (GRCm39)	H146Q	probably benign	Het
Rundc1	A	T	11: 101,322,322 (GRCm39)	Q272L	probably damaging	Het
Scml4	T	C	10: 42,832,017 (GRCm39)	L305P	probably damaging	Het
Sec16a	A	T	2: 26,320,144 (GRCm39)	H1431Q	probably benign	Het
Serpina1a	G	A	12: 103,820,059 (GRCm39)	Q373*	probably null	Het
Shank1	A	T	7: 43,974,801 (GRCm39)	N377I	unknown	Het
Shc2	T	C	10: 79,462,625 (GRCm39)		probably null	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc7a2	A	T	8: 41,368,002 (GRCm39)	I589F	probably damaging	Het
Smim8	C	T	4: 34,771,316 (GRCm39)	R26Q	probably damaging	Het
Smox	C	A	2: 131,362,384 (GRCm39)	A221D	probably damaging	Het
Sox5	A	G	6: 143,819,831 (GRCm39)	S62P	possibly damaging	Het
Spg21	A	C	9: 65,391,774 (GRCm39)	K240N	probably damaging	Het
Sv2c	C	T	13: 96,113,153 (GRCm39)	V599M	probably damaging	Het
Tanc2	T	A	11: 105,801,121 (GRCm39)	H1112Q	probably damaging	Het
Tbata	T	C	10: 61,011,623 (GRCm39)	I58T	possibly damaging	Het
Tbc1d2	T	G	4: 46,606,419 (GRCm39)	Y842S	probably benign	Het
Tctn1	A	T	5: 122,379,903 (GRCm39)		probably null	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Tfcp2l1	T	C	1: 118,597,119 (GRCm39)	V400A	probably benign	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Top2a	T	C	11: 98,886,803 (GRCm39)		probably null	Het
Traf7	C	A	17: 24,732,255 (GRCm39)	G191C	probably damaging	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttn	T	C	2: 76,580,967 (GRCm39)	I23309V	probably benign	Het
Usp50	T	C	2: 126,619,881 (GRCm39)	K199E	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,683 (GRCm39)	F10S	probably damaging	Het
Vmn2r89	C	A	14: 51,694,897 (GRCm39)	T459K	probably benign	Het
Vps13a	T	G	19: 16,655,302 (GRCm39)	S1909R	possibly damaging	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Vwa8	A	G	14: 79,219,800 (GRCm39)	H516R	possibly damaging	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	Het
Zfat	G	C	15: 68,018,392 (GRCm39)	P974R	probably benign	Het
Zfc3h1	T	A	10: 115,259,158 (GRCm39)	I1601K	probably benign	Het
Zfp239	A	G	6: 117,848,778 (GRCm39)	K172R	probably benign	Het
Zfp335	C	T	2: 164,736,722 (GRCm39)	G971D	probably damaging	Het
Zfp532	A	T	18: 65,757,563 (GRCm39)	I499F	probably damaging	Het
Zfp647	T	C	15: 76,795,314 (GRCm39)	T449A	possibly damaging	Het
Zfp938	C	T	10: 82,061,465 (GRCm39)	G385D	probably damaging	Het
Zfp959	T	G	17: 56,204,404 (GRCm39)	V147G	probably damaging	Het
Znfx1	A	T	2: 166,892,270 (GRCm39)	C649S	probably damaging	Het

Other mutations in Nlrp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Nlrp6	APN	7	140,503,037 (GRCm39)	missense	probably damaging	1.00
IGL01066:Nlrp6	APN	7	140,501,709 (GRCm39)	missense	possibly damaging	0.88
IGL01966:Nlrp6	APN	7	140,505,103 (GRCm39)	missense	probably damaging	1.00
IGL02625:Nlrp6	APN	7	140,503,413 (GRCm39)	missense	probably benign	0.00
IGL02792:Nlrp6	APN	7	140,502,348 (GRCm39)	missense	probably damaging	0.97
IGL02813:Nlrp6	APN	7	140,503,333 (GRCm39)	missense	possibly damaging	0.86
IGL03140:Nlrp6	APN	7	140,507,400 (GRCm39)	missense	probably benign	0.01
R0608:Nlrp6	UTSW	7	140,503,399 (GRCm39)	nonsense	probably null
R1404:Nlrp6	UTSW	7	140,504,026 (GRCm39)	small deletion	probably benign
R1404:Nlrp6	UTSW	7	140,504,026 (GRCm39)	small deletion	probably benign
R1472:Nlrp6	UTSW	7	140,503,408 (GRCm39)	missense	probably damaging	1.00
R1587:Nlrp6	UTSW	7	140,502,959 (GRCm39)	missense	probably damaging	1.00
R1843:Nlrp6	UTSW	7	140,503,006 (GRCm39)	missense	probably damaging	1.00
R2097:Nlrp6	UTSW	7	140,503,117 (GRCm39)	missense	probably damaging	1.00
R2118:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2119:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2120:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2121:Nlrp6	UTSW	7	140,506,357 (GRCm39)	missense	probably benign	0.11
R2290:Nlrp6	UTSW	7	140,502,076 (GRCm39)	missense	probably damaging	1.00
R3546:Nlrp6	UTSW	7	140,506,682 (GRCm39)	missense	probably benign	0.00
R3547:Nlrp6	UTSW	7	140,506,682 (GRCm39)	missense	probably benign	0.00
R3970:Nlrp6	UTSW	7	140,501,568 (GRCm39)	missense	probably damaging	1.00
R4483:Nlrp6	UTSW	7	140,501,694 (GRCm39)	missense	probably damaging	1.00
R4484:Nlrp6	UTSW	7	140,501,694 (GRCm39)	missense	probably damaging	1.00
R4869:Nlrp6	UTSW	7	140,504,006 (GRCm39)	missense	probably damaging	1.00
R4962:Nlrp6	UTSW	7	140,503,497 (GRCm39)	missense	probably damaging	0.99
R5436:Nlrp6	UTSW	7	140,502,630 (GRCm39)	nonsense	probably null
R5442:Nlrp6	UTSW	7	140,502,103 (GRCm39)	missense	probably benign	0.01
R5924:Nlrp6	UTSW	7	140,503,403 (GRCm39)	missense	probably damaging	1.00
R5936:Nlrp6	UTSW	7	140,502,725 (GRCm39)	nonsense	probably null
R6124:Nlrp6	UTSW	7	140,503,160 (GRCm39)	missense	probably damaging	1.00
R6455:Nlrp6	UTSW	7	140,507,422 (GRCm39)	missense	possibly damaging	0.65
R6480:Nlrp6	UTSW	7	140,507,356 (GRCm39)	missense	possibly damaging	0.93
R6873:Nlrp6	UTSW	7	140,503,433 (GRCm39)	missense	probably benign	0.01
R7061:Nlrp6	UTSW	7	140,502,780 (GRCm39)	missense	probably benign	0.36
R7350:Nlrp6	UTSW	7	140,501,191 (GRCm39)	start gained	probably benign
R7532:Nlrp6	UTSW	7	140,505,097 (GRCm39)	missense	probably benign	0.00
R7752:Nlrp6	UTSW	7	140,507,353 (GRCm39)	missense	possibly damaging	0.92
R7901:Nlrp6	UTSW	7	140,507,353 (GRCm39)	missense	possibly damaging	0.92
R8098:Nlrp6	UTSW	7	140,503,168 (GRCm39)	missense	probably damaging	1.00
R8381:Nlrp6	UTSW	7	140,503,754 (GRCm39)	missense	possibly damaging	0.47
R8513:Nlrp6	UTSW	7	140,502,743 (GRCm39)	missense	possibly damaging	0.83
R9114:Nlrp6	UTSW	7	140,506,332 (GRCm39)	missense	probably damaging	1.00
V7732:Nlrp6	UTSW	7	140,506,561 (GRCm39)	splice site	probably benign
Z1176:Nlrp6	UTSW	7	140,502,634 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAATTTTGGACTGGAGCTGC -3'
(R):5'- TAGAGACAGCTGCCTTGCAAG -3'

Sequencing Primer
(F):5'- CTGTACTGCCTGTATGAGACACAG -3'
(R):5'- CTTGCAAGGAATGGGTAAAGCAGTC -3'

Posted On

2014-08-01