Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00691:Nr3c2'

13649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nr3c2

Ensembl Gene

ENSMUSG00000031618

Gene Name

nuclear receptor subfamily 3, group C, member 2

Synonyms

mineralocorticoid receptor, MR, aldosterone receptor, Mlr

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00691

Quality Score

Status

Chromosome

Chromosomal Location

77626070-77971641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77636219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 440 (S440F)

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

possibly damaging
Transcript: ENSMUST00000034031
AA Change: S440F

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034031
Gene: ENSMUSG00000031618
AA Change: S440F

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: S440F

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105537
Gene: ENSMUSG00000031618
AA Change: S440F

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

possibly damaging
Transcript: ENSMUST00000109912
AA Change: S440F

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105538
Gene: ENSMUSG00000031618
AA Change: S440F

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

possibly damaging
Transcript: ENSMUST00000109913
AA Change: S440F

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105539
Gene: ENSMUSG00000031618
AA Change: S440F

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

possibly damaging
Transcript: ENSMUST00000148106
AA Change: S440F

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118222
Gene: ENSMUSG00000031618
AA Change: S440F

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

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	C	2: 58,337,585 (GRCm39)	D499G	probably benign	Het
Agl	G	T	3: 116,572,907 (GRCm39)	Q811K	possibly damaging	Het
Col6a4	C	A	9: 105,934,606 (GRCm39)	G1435C	probably damaging	Het
Dhx15	T	C	5: 52,327,435 (GRCm39)	Y303C	probably damaging	Het
Ebag9	A	G	15: 44,490,987 (GRCm39)	I40V	probably damaging	Het
Garre1	C	T	7: 33,944,910 (GRCm39)	V657M	probably damaging	Het
Lrrd1	T	G	5: 3,913,929 (GRCm39)	I733S	probably damaging	Het
Mroh8	T	C	2: 157,080,227 (GRCm39)		probably benign	Het
St3gal4	A	G	9: 34,964,365 (GRCm39)		probably benign	Het
Tle2	A	G	10: 81,417,573 (GRCm39)	D246G	probably benign	Het
Vipr2	A	G	12: 116,102,368 (GRCm39)		probably null	Het
Zfp711	G	A	X: 111,534,508 (GRCm39)	R284Q	probably damaging	Het
Zzz3	C	A	3: 152,134,151 (GRCm39)	T403K	probably benign	Het

Other mutations in Nr3c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1965:Nr3c2	UTSW	8	77,636,092 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2012-12-06