Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Nr3c2'

218288

Institutional Source

Beutler Lab

Gene Symbol

Nr3c2

Ensembl Gene

ENSMUSG00000031618

Gene Name

nuclear receptor subfamily 3, group C, member 2

Synonyms

mineralocorticoid receptor, MR, aldosterone receptor, Mlr

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77626070-77971641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77636092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 398 (I398L)

Ref Sequence

ENSEMBL: ENSMUSP00000118222 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034031
AA Change: I398L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: I398L

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

probably benign
Transcript: ENSMUST00000109911
AA Change: I398L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: I398L

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 damaging
Transcript: ENSMUST00000109912
AA Change: I398L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: I398L

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 damaging
Transcript: ENSMUST00000109913
AA Change: I398L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: I398L

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 damaging
Transcript: ENSMUST00000148106
AA Change: I398L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: I398L

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	probably damaging	Het

Other mutations in Nr3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Nr3c2	APN	8	77,636,219 (GRCm39)	missense	possibly damaging	0.82
IGL01019:Nr3c2	APN	8	77,635,843 (GRCm39)	missense	probably damaging	0.99
IGL01085:Nr3c2	APN	8	77,634,983 (GRCm39)	missense	probably benign	0.02
IGL01395:Nr3c2	APN	8	77,635,477 (GRCm39)	missense	possibly damaging	0.73
IGL01505:Nr3c2	APN	8	77,635,816 (GRCm39)	missense	probably damaging	1.00
IGL01656:Nr3c2	APN	8	77,914,166 (GRCm39)	missense	probably damaging	1.00
IGL01802:Nr3c2	APN	8	77,635,224 (GRCm39)	nonsense	probably null
IGL02147:Nr3c2	APN	8	77,635,696 (GRCm39)	missense	probably damaging	0.98
IGL02502:Nr3c2	APN	8	77,969,143 (GRCm39)	missense	probably damaging	1.00
IGL02706:Nr3c2	APN	8	77,635,045 (GRCm39)	splice site	probably null
IGL02945:Nr3c2	APN	8	77,636,288 (GRCm39)	missense	probably damaging	1.00
IGL03034:Nr3c2	APN	8	77,914,267 (GRCm39)	nonsense	probably null
IGL03162:Nr3c2	APN	8	77,944,213 (GRCm39)	missense	probably damaging	0.99
devalued	UTSW	8	77,969,092 (GRCm39)	missense	probably damaging	1.00
naughty	UTSW	8	77,635,297 (GRCm39)	splice site	probably null
R0141:Nr3c2	UTSW	8	77,635,037 (GRCm39)	missense	probably damaging	0.99
R0422:Nr3c2	UTSW	8	77,912,596 (GRCm39)	missense	probably benign
R0458:Nr3c2	UTSW	8	77,636,167 (GRCm39)	missense	probably damaging	1.00
R0595:Nr3c2	UTSW	8	77,636,233 (GRCm39)	missense	possibly damaging	0.93
R0615:Nr3c2	UTSW	8	77,912,518 (GRCm39)	missense	probably benign	0.05
R0964:Nr3c2	UTSW	8	77,635,297 (GRCm39)	splice site	probably null
R0989:Nr3c2	UTSW	8	77,914,193 (GRCm39)	missense	probably damaging	0.97
R1532:Nr3c2	UTSW	8	77,635,733 (GRCm39)	missense	probably damaging	0.99
R1624:Nr3c2	UTSW	8	77,636,573 (GRCm39)	missense	probably damaging	1.00
R1737:Nr3c2	UTSW	8	77,634,958 (GRCm39)	missense	probably benign	0.16
R2011:Nr3c2	UTSW	8	77,636,422 (GRCm39)	missense	possibly damaging	0.53
R2110:Nr3c2	UTSW	8	77,635,156 (GRCm39)	missense	possibly damaging	0.75
R2281:Nr3c2	UTSW	8	77,636,536 (GRCm39)	missense	probably damaging	0.99
R3782:Nr3c2	UTSW	8	77,812,313 (GRCm39)	splice site	probably null
R3808:Nr3c2	UTSW	8	77,635,343 (GRCm39)	missense	probably damaging	1.00
R4133:Nr3c2	UTSW	8	77,636,378 (GRCm39)	missense	probably damaging	1.00
R4433:Nr3c2	UTSW	8	77,944,096 (GRCm39)	missense	probably damaging	1.00
R4738:Nr3c2	UTSW	8	77,635,936 (GRCm39)	missense	possibly damaging	0.94
R4770:Nr3c2	UTSW	8	77,634,872 (GRCm39)	splice site	probably null
R4884:Nr3c2	UTSW	8	77,635,438 (GRCm39)	missense	possibly damaging	0.53
R5169:Nr3c2	UTSW	8	77,635,666 (GRCm39)	missense	probably damaging	1.00
R5347:Nr3c2	UTSW	8	77,937,377 (GRCm39)	missense	possibly damaging	0.92
R5857:Nr3c2	UTSW	8	77,635,496 (GRCm39)	missense	possibly damaging	0.53
R5878:Nr3c2	UTSW	8	77,634,897 (GRCm39)	critical splice acceptor site	probably null
R6262:Nr3c2	UTSW	8	77,635,262 (GRCm39)	missense	possibly damaging	0.65
R6547:Nr3c2	UTSW	8	77,635,438 (GRCm39)	missense	possibly damaging	0.53
R6820:Nr3c2	UTSW	8	77,969,086 (GRCm39)	missense	probably damaging	0.98
R7180:Nr3c2	UTSW	8	77,635,592 (GRCm39)	missense	probably damaging	0.99
R7672:Nr3c2	UTSW	8	77,635,838 (GRCm39)	missense	probably damaging	1.00
R7741:Nr3c2	UTSW	8	77,937,275 (GRCm39)	missense	probably damaging	0.97
R7776:Nr3c2	UTSW	8	77,636,174 (GRCm39)	missense	possibly damaging	0.77
R7800:Nr3c2	UTSW	8	77,636,621 (GRCm39)	missense	probably damaging	1.00
R8742:Nr3c2	UTSW	8	77,635,210 (GRCm39)	missense	probably damaging	0.98
R8743:Nr3c2	UTSW	8	77,636,387 (GRCm39)	missense	probably damaging	1.00
R8806:Nr3c2	UTSW	8	77,969,092 (GRCm39)	missense	probably damaging	1.00
R8964:Nr3c2	UTSW	8	77,881,941 (GRCm39)	missense	probably damaging	1.00
R9265:Nr3c2	UTSW	8	77,636,236 (GRCm39)	missense	probably benign
R9280:Nr3c2	UTSW	8	77,635,973 (GRCm39)	missense	probably benign	0.00
Z1088:Nr3c2	UTSW	8	77,635,261 (GRCm39)	missense	possibly damaging	0.48
Z1176:Nr3c2	UTSW	8	77,636,329 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGCTATACCACTTCAGGCGC -3'
(R):5'- GGTGGTCCTAAGATTCCTGATAG -3'

Sequencing Primer
(F):5'- ATACCACTTCAGGCGCTTCGG -3'
(R):5'- AAGTACGAGCCATCCATGAATG -3'

Posted On

2014-08-01