Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02547:Nr5a2'

297869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nr5a2

Ensembl Gene

ENSMUSG00000026398

Gene Name

nuclear receptor subfamily 5, group A, member 2

Synonyms

D1Ertd308e, Ftf, LRH-1, UF2-H3B

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

136842571-136960448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136940927 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 196 (M196L)

Ref Sequence

ENSEMBL: ENSMUSP00000142219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027649] [ENSMUST00000168126] [ENSMUST00000192357] [ENSMUST00000192929] [ENSMUST00000195428]

Predicted Effect

probably benign
Transcript: ENSMUST00000027649
AA Change: M217L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: M217L

Domain	Start	End	E-Value	Type
ZnF_C4	104	175	2.85e-40	SMART
Blast:HOLI	196	247	1e-5	BLAST
low complexity region	290	302	N/A	INTRINSIC
HOLI	366	529	4.13e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168126
AA Change: M156L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: M156L

Domain	Start	End	E-Value	Type
ZnF_C4	43	114	2.85e-40	SMART
low complexity region	229	241	N/A	INTRINSIC
HOLI	305	468	4.13e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192357
AA Change: M196L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: M196L

Domain	Start	End	E-Value	Type
ZnF_C4	83	154	1.1e-42	SMART
Blast:HOLI	175	226	1e-5	BLAST
low complexity region	269	281	N/A	INTRINSIC
HOLI	345	508	1.7e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192587

Predicted Effect

probably benign
Transcript: ENSMUST00000192929
AA Change: M156L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: M156L

Domain	Start	End	E-Value	Type
ZnF_C4	43	114	2.85e-40	SMART
low complexity region	229	241	N/A	INTRINSIC
HOLI	305	468	4.13e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000195428

SMART Domains

Protein: ENSMUSP00000141645
Gene: ENSMUSG00000026398

Domain	Start	End	E-Value	Type
ZnF_C4	43	114	1.1e-42	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene die around embryonic day 7.5. Heterozygotes are essentially normal but with lower plasma cholesterol, increased bile acids, and shorter intestinal crypt length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	C	T	5: 109,678,762		probably null	Het
Akap6	T	A	12: 53,140,696	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,603,276		probably benign	Het
Atp5o	A	T	16: 91,928,961	Y48N	probably damaging	Het
Birc6	T	G	17: 74,579,645	M656R	probably benign	Het
Camkk1	A	G	11: 73,038,433	R455G	probably benign	Het
Casr	A	T	16: 36,515,674	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,214,146	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,202,504		probably benign	Het
Cdc37	G	T	9: 21,139,966		probably benign	Het
Cdon	A	G	9: 35,478,654	D868G	probably damaging	Het
Cyp4f15	A	G	17: 32,700,255	R351G	probably benign	Het
Dclk3	T	C	9: 111,469,023	I545T	probably damaging	Het
Dock4	A	G	12: 40,737,479	M798V	probably benign	Het
Gas7	A	T	11: 67,665,435	Q200L	probably damaging	Het
Gm15448	T	C	7: 3,821,661	D573G	probably damaging	Het
Gm4758	A	T	16: 36,312,526		probably benign	Het
Gm6614	A	T	6: 141,990,390	L323Q	probably damaging	Het
Ica1	T	C	6: 8,670,691		probably null	Het
Idh3a	T	A	9: 54,592,395	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970	T247S	probably benign	Het
Itgb7	A	G	15: 102,218,510	C497R	probably damaging	Het
Itm2c	T	C	1: 85,906,461	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,672,484	D98G	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Muc15	A	G	2: 110,731,305	R29G	probably damaging	Het
Neb	T	A	2: 52,188,730	T142S	probably damaging	Het
Nipbl	G	A	15: 8,351,598	T570I	probably benign	Het
Nrp1	C	A	8: 128,493,031	F643L	probably benign	Het
Olfr1098	A	G	2: 86,923,028	F168S	probably damaging	Het
Olfr1441	A	T	19: 12,422,311	M1L	probably benign	Het
Olfr600	A	G	7: 103,346,244	F228S	probably damaging	Het
Olfr625-ps1	T	C	7: 103,682,766	I16T	probably benign	Het
Osbpl9	C	T	4: 109,068,483	W446*	probably null	Het
Pced1a	T	C	2: 130,419,707	D342G	possibly damaging	Het
Prkcd	C	A	14: 30,599,469	W555L	probably damaging	Het
Prpf31	T	C	7: 3,630,899	S78P	probably benign	Het
Psg27	T	C	7: 18,560,628	T285A	probably benign	Het
Retreg3	A	T	11: 101,106,378	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501	K282E	possibly damaging	Het
Sept8	G	T	11: 53,537,265	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,116,543	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301		probably benign	Het
Spats1	A	T	17: 45,474,817		probably benign	Het
Tcerg1l	C	T	7: 138,248,371		probably null	Het
Ttn	A	G	2: 76,729,386	V21230A	probably damaging	Het
Ubxn11	A	C	4: 134,109,584	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,908,019	I979S	possibly damaging	Het
Zc3h6	T	A	2: 129,015,611	H683Q	probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp629	T	C	7: 127,611,674		probably null	Het

Other mutations in Nr5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Nr5a2	APN	1	136890798	missense	probably damaging	1.00
IGL01082:Nr5a2	APN	1	136845468	missense	probably benign	0.06
IGL02688:Nr5a2	APN	1	136940407	critical splice donor site	probably null
IGL02712:Nr5a2	APN	1	136940528	splice site	probably null
aggressivity	UTSW	1	136882344	missense	possibly damaging	0.78
R0356:Nr5a2	UTSW	1	136845692	missense	possibly damaging	0.91
R0653:Nr5a2	UTSW	1	136948805	missense	probably benign	0.04
R1111:Nr5a2	UTSW	1	136882421	splice site	probably null
R1728:Nr5a2	UTSW	1	136952125	missense	probably benign
R1729:Nr5a2	UTSW	1	136952125	missense	probably benign
R1730:Nr5a2	UTSW	1	136952125	missense	probably benign
R1739:Nr5a2	UTSW	1	136952125	missense	probably benign
R1762:Nr5a2	UTSW	1	136952125	missense	probably benign
R1783:Nr5a2	UTSW	1	136952125	missense	probably benign
R1784:Nr5a2	UTSW	1	136952125	missense	probably benign
R1785:Nr5a2	UTSW	1	136952125	missense	probably benign
R1927:Nr5a2	UTSW	1	136944994	missense	probably damaging	1.00
R2360:Nr5a2	UTSW	1	136948827	missense	probably benign
R3408:Nr5a2	UTSW	1	136940498	missense	probably benign
R4662:Nr5a2	UTSW	1	136940429	missense	probably benign	0.00
R4861:Nr5a2	UTSW	1	136948720	critical splice donor site	probably null
R4861:Nr5a2	UTSW	1	136948720	critical splice donor site	probably null
R5176:Nr5a2	UTSW	1	136948802	start codon destroyed	probably null	0.96
R5999:Nr5a2	UTSW	1	136845542	missense	probably damaging	1.00
R6191:Nr5a2	UTSW	1	136890798	missense	probably damaging	1.00
R6457:Nr5a2	UTSW	1	136960238	missense	probably benign	0.00
R6747:Nr5a2	UTSW	1	136882344	missense	possibly damaging	0.78
R8170:Nr5a2	UTSW	1	136940647	missense	probably benign	0.06
R9013:Nr5a2	UTSW	1	136945007	missense	probably damaging	1.00
X0012:Nr5a2	UTSW	1	136943292	missense	probably damaging	1.00
X0065:Nr5a2	UTSW	1	136940777	missense	probably benign	0.00

Posted On

2015-04-16