Mutagenetix > Incidental Mutations

Incidental Mutation 'R2011:Nr3c2'

219712

Institutional Source

Beutler Lab

Gene Symbol

Nr3c2

Ensembl Gene

ENSMUSG00000031618

Gene Name

nuclear receptor subfamily 3, group C, member 2

Synonyms

MR, aldosterone receptor, mineralocorticoid receptor, Mlr

MMRRC Submission

040020-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2011 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76899442-77245012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76909793 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 508 (I508F)

Ref Sequence

ENSEMBL: ENSMUSP00000105537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034031] [ENSMUST00000109911] [ENSMUST00000109912] [ENSMUST00000109913] [ENSMUST00000128862] [ENSMUST00000143284] [ENSMUST00000148106]

Predicted Effect

probably benign
Transcript: ENSMUST00000034031
AA Change: I508F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: I508F

Domain	Start	End	E-Value	Type
low complexity region	212	222	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	280	300	N/A	INTRINSIC
low complexity region	346	354	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
ZnF_C4	600	675	1.89e-31	SMART
low complexity region	690	706	N/A	INTRINSIC
HOLI	771	935	7.78e-33	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109911
AA Change: I508F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: I508F

Domain	Start	End	E-Value	Type
low complexity region	212	222	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	280	300	N/A	INTRINSIC
low complexity region	346	354	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
ZnF_C4	600	671	5.29e-35	SMART
HOLI	658	818	1.1e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109912
AA Change: I508F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: I508F

Domain	Start	End	E-Value	Type
low complexity region	212	222	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	280	300	N/A	INTRINSIC
low complexity region	346	354	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
ZnF_C4	600	671	5.29e-35	SMART
low complexity region	686	702	N/A	INTRINSIC
HOLI	767	931	7.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109913
AA Change: I508F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: I508F

Domain	Start	End	E-Value	Type
low complexity region	212	222	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	280	300	N/A	INTRINSIC
low complexity region	346	354	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
ZnF_C4	600	671	5.29e-35	SMART
low complexity region	686	702	N/A	INTRINSIC
HOLI	767	931	7.78e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128862

Predicted Effect

probably benign
Transcript: ENSMUST00000143284

Predicted Effect

probably benign
Transcript: ENSMUST00000148106
AA Change: I508F

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: I508F

Domain	Start	End	E-Value	Type
low complexity region	212	222	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	280	300	N/A	INTRINSIC
low complexity region	346	354	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
ZnF_C4	600	671	5.29e-35	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit weight loss and symptoms of pseudohypoaldosteronism, and eventually die at around day 10 after birth from renal salt wasting and dehydration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	G	10: 100,583,958	D58A	probably damaging	Het
Abhd6	A	T	14: 8,042,742	T100S	probably benign	Het
Adam6a	T	C	12: 113,545,378	I457T	probably benign	Het
Aff3	T	C	1: 38,207,915	N863S	probably benign	Het
Agk	C	A	6: 40,376,234	D177E	probably benign	Het
Alg9	C	T	9: 50,788,200	A209V	probably damaging	Het
Arl6	A	T	16: 59,624,313	I51K	probably damaging	Het
Bpi	A	T	2: 158,261,352	H89L	probably damaging	Het
C1qtnf1	T	A	11: 118,448,284	F260Y	probably benign	Het
Cblc	T	A	7: 19,784,822	D452V	probably benign	Het
Ccar1	T	C	10: 62,776,694	T231A	probably benign	Het
Ccdc112	A	G	18: 46,287,432	L417P	probably damaging	Het
Ccdc144b	A	T	3: 36,010,678	C515*	probably null	Het
Ccdc34	G	A	2: 110,044,304	R336Q	possibly damaging	Het
CK137956	A	G	4: 127,951,036	S305P	probably benign	Het
Clip2	T	C	5: 134,503,115	D612G	probably damaging	Het
Col28a1	T	C	6: 8,059,360	T692A	probably benign	Het
Copg2	A	T	6: 30,816,741		probably null	Het
Ctnna2	T	A	6: 76,973,791	I566F	possibly damaging	Het
Cux2	C	T	5: 121,861,326	D1184N	probably benign	Het
Dclk3	A	G	9: 111,468,354	E322G	probably benign	Het
Ddx41	A	T	13: 55,534,093		probably null	Het
Dnaaf2	G	A	12: 69,196,785	P107S	probably damaging	Het
Eif2ak4	A	G	2: 118,430,947	E578G	probably damaging	Het
Exd1	A	G	2: 119,528,663		probably benign	Het
Fat2	G	A	11: 55,282,757	P2377S	probably damaging	Het
Fbxl18	T	C	5: 142,872,459	T741A	probably benign	Het
Fgr	C	A	4: 132,997,521	A311E	probably damaging	Het
Fmo4	T	C	1: 162,798,889	T363A	probably damaging	Het
Fsbp	T	C	4: 11,584,006	V235A	probably benign	Het
Gm1110	T	A	9: 26,894,258	H366L	probably benign	Het
Gm43302	T	C	5: 105,290,980	N14S	probably damaging	Het
Gm5422	A	G	10: 31,248,768		noncoding transcript	Het
Gpr21	A	G	2: 37,517,535	E31G	probably damaging	Het
Gucy1b2	G	T	14: 62,408,758	N560K	probably damaging	Het
Hmcn1	T	C	1: 150,677,334	Q2535R	probably benign	Het
Hnrnpm	A	T	17: 33,664,624	N264K	probably damaging	Het
Hyal6	A	T	6: 24,734,724	I219L	possibly damaging	Het
Ifi211	A	G	1: 173,907,603	S87P	probably damaging	Het
Il17rb	A	T	14: 29,996,840	C428*	probably null	Het
Iqca	T	C	1: 90,045,626	N808S	probably benign	Het
Kcnu1	A	G	8: 25,918,442	I94V	probably benign	Het
Lrba	A	T	3: 86,310,017	E517V	probably damaging	Het
Mcidas	A	G	13: 112,993,981	E37G	possibly damaging	Het
Med23	T	A	10: 24,879,755	F83L	possibly damaging	Het
Micu2	T	C	14: 57,954,133		probably null	Het
Mrgprx2	A	T	7: 48,482,534	C179S	probably damaging	Het
Myo6	A	G	9: 80,307,722	T1236A	probably damaging	Het
Myo7a	A	T	7: 98,054,708	V1946E	possibly damaging	Het
Nek10	A	T	14: 14,885,122	Y695F	probably damaging	Het
Olfr1056	A	T	2: 86,356,186	H65Q	possibly damaging	Het
Olfr1133	A	T	2: 87,645,889	I78N	probably damaging	Het
Olfr12	T	C	1: 92,620,749	V281A	probably benign	Het
Olfr307	A	T	7: 86,335,747	Y216*	probably null	Het
Olfr695	T	C	7: 106,873,427	I273V	probably benign	Het
Olfr743	T	C	14: 50,533,684	S91P	probably damaging	Het
Oxct1	T	C	15: 4,153,761	S485P	probably benign	Het
Oxt	A	G	2: 130,576,652	D61G	probably damaging	Het
P2ry10	A	C	X: 107,102,635	I59L	probably damaging	Het
Parp11	A	G	6: 127,477,891	N124S	probably benign	Het
Pcdh7	T	A	5: 57,719,629	N175K	probably damaging	Het
Pdgfrb	T	A	18: 61,061,494	S114R	probably benign	Het
Pfdn5	A	G	15: 102,326,521	N54S	possibly damaging	Het
Phc2	T	A	4: 128,723,585	V468E	probably benign	Het
Piezo2	T	C	18: 63,059,744	T1605A	probably damaging	Het
Pik3cb	A	T	9: 99,105,579	Y35*	probably null	Het
Piwil2	A	T	14: 70,426,634	M22K	probably damaging	Het
Plag1	A	G	4: 3,904,889	F101L	probably damaging	Het
Pomt2	A	G	12: 87,111,399	L680P	possibly damaging	Het
Ppp1r36	A	G	12: 76,418,926		probably null	Het
Prkag2	C	T	5: 24,871,054		probably null	Het
Prkg1	T	C	19: 31,664,142	D47G	possibly damaging	Het
Prl6a1	G	A	13: 27,315,369	G45D	probably benign	Het
Rbm20	G	A	19: 53,859,428	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,897,097	N465K	probably benign	Het
Rtcb	A	T	10: 85,941,933	I459N	probably damaging	Het
Rtp3	A	T	9: 110,986,034		probably benign	Het
Rundc3b	T	A	5: 8,512,409		probably null	Het
Scube3	A	G	17: 28,168,158	T877A	probably damaging	Het
Sh2d4a	A	T	8: 68,346,742	Q421L	probably benign	Het
Siglec1	A	T	2: 131,083,357	Y395N	probably damaging	Het
Slc6a1	G	T	6: 114,307,770	G263V	probably damaging	Het
Slco1c1	T	A	6: 141,555,107	F437L	probably benign	Het
Slco3a1	G	A	7: 74,346,671	A329V	probably benign	Het
Spag9	T	A	11: 94,092,375	L504*	probably null	Het
Spen	A	T	4: 141,473,329	N2662K	probably damaging	Het
Sptb	G	C	12: 76,632,472	R70G	possibly damaging	Het
Stk3	A	G	15: 35,072,498	S136P	probably damaging	Het
Synj1	A	T	16: 90,938,696	F1456L	probably damaging	Het
Tbx5	T	C	5: 119,841,906		probably null	Het
Tchh	G	A	3: 93,446,961	R1236Q	unknown	Het
Timd4	C	A	11: 46,820,030	T253K	possibly damaging	Het
Tmc6	A	G	11: 117,769,406	Y669H	probably damaging	Het
Tmem151a	C	T	19: 5,082,938	R80H	probably benign	Het
Tpgs1	T	C	10: 79,675,888	L288P	probably damaging	Het
Trhde	T	C	10: 114,498,793	I659V	probably benign	Het
Trpm7	A	T	2: 126,823,997	Y896*	probably null	Het
Ttc5	C	A	14: 50,781,550	E37*	probably null	Het
Uvrag	A	G	7: 98,939,889		probably null	Het
Vmn1r59	T	A	7: 5,454,284	D159V	probably damaging	Het
Vmn2r78	G	A	7: 86,955,079	V822M	possibly damaging	Het
Vnn1	C	A	10: 23,894,971	Y32*	probably null	Het
Wrn	A	G	8: 33,236,404	V1380A	probably benign	Het
Zc3h14	A	C	12: 98,780,268	S579R	possibly damaging	Het
Zfp277	G	A	12: 40,317,218	Q480*	probably null	Het
Zfp456	G	A	13: 67,366,874	Q238*	probably null	Het
Zranb3	T	A	1: 128,091,901	T35S	probably benign	Het

Other mutations in Nr3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Nr3c2	APN	8	76909590	missense	possibly damaging	0.82
IGL01019:Nr3c2	APN	8	76909214	missense	probably damaging	0.99
IGL01085:Nr3c2	APN	8	76908354	missense	probably benign	0.02
IGL01395:Nr3c2	APN	8	76908848	missense	possibly damaging	0.73
IGL01505:Nr3c2	APN	8	76909187	missense	probably damaging	1.00
IGL01656:Nr3c2	APN	8	77187537	missense	probably damaging	1.00
IGL01802:Nr3c2	APN	8	76908595	nonsense	probably null
IGL02147:Nr3c2	APN	8	76909067	missense	probably damaging	0.98
IGL02502:Nr3c2	APN	8	77242514	missense	probably damaging	1.00
IGL02706:Nr3c2	APN	8	76908416	splice site	probably null
IGL02945:Nr3c2	APN	8	76909659	missense	probably damaging	1.00
IGL03034:Nr3c2	APN	8	77187638	nonsense	probably null
IGL03162:Nr3c2	APN	8	77217584	missense	probably damaging	0.99
naughty	UTSW	8	76908668	splice site	probably null
R0141:Nr3c2	UTSW	8	76908408	missense	probably damaging	0.99
R0422:Nr3c2	UTSW	8	77185967	missense	probably benign
R0458:Nr3c2	UTSW	8	76909538	missense	probably damaging	1.00
R0595:Nr3c2	UTSW	8	76909604	missense	possibly damaging	0.93
R0615:Nr3c2	UTSW	8	77185889	missense	probably benign	0.05
R0964:Nr3c2	UTSW	8	76908668	splice site	probably null
R0989:Nr3c2	UTSW	8	77187564	missense	probably damaging	0.97
R1532:Nr3c2	UTSW	8	76909104	missense	probably damaging	0.99
R1624:Nr3c2	UTSW	8	76909944	missense	probably damaging	1.00
R1737:Nr3c2	UTSW	8	76908329	missense	probably benign	0.16
R1965:Nr3c2	UTSW	8	76909463	missense	probably damaging	0.99
R2110:Nr3c2	UTSW	8	76908527	missense	possibly damaging	0.75
R2281:Nr3c2	UTSW	8	76909907	missense	probably damaging	0.99
R3782:Nr3c2	UTSW	8	77085684	splice site	probably null
R3808:Nr3c2	UTSW	8	76908714	missense	probably damaging	1.00
R4133:Nr3c2	UTSW	8	76909749	missense	probably damaging	1.00
R4433:Nr3c2	UTSW	8	77217467	missense	probably damaging	1.00
R4738:Nr3c2	UTSW	8	76909307	missense	possibly damaging	0.94
R4770:Nr3c2	UTSW	8	76908243	splice site	probably null
R4884:Nr3c2	UTSW	8	76908809	missense	possibly damaging	0.53
R5169:Nr3c2	UTSW	8	76909037	missense	probably damaging	1.00
R5347:Nr3c2	UTSW	8	77210748	missense	possibly damaging	0.92
R5857:Nr3c2	UTSW	8	76908867	missense	possibly damaging	0.53
R5878:Nr3c2	UTSW	8	76908268	critical splice acceptor site	probably null
R6262:Nr3c2	UTSW	8	76908633	missense	possibly damaging	0.65
R6547:Nr3c2	UTSW	8	76908809	missense	possibly damaging	0.53
R6820:Nr3c2	UTSW	8	77242457	missense	probably damaging	0.98
R7180:Nr3c2	UTSW	8	76908963	missense	probably damaging	0.99
R7672:Nr3c2	UTSW	8	76909209	missense	probably damaging	1.00
R7741:Nr3c2	UTSW	8	77210646	missense	probably damaging	0.97
R7776:Nr3c2	UTSW	8	76909545	missense	possibly damaging	0.77
R7800:Nr3c2	UTSW	8	76909992	missense	probably damaging	1.00
Z1088:Nr3c2	UTSW	8	76908632	missense	possibly damaging	0.48
Z1176:Nr3c2	UTSW	8	76909700	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAAGCAAGCACTCATGTTCAGG -3'
(R):5'- CCGTGTGGTTTCCATGACTC -3'

Sequencing Primer
(F):5'- GCGCCTCTTTTAAAGGGAAC -3'
(R):5'- TGACTCCACTAATGCATTGACAGG -3'

Posted On

2014-08-25