Mutagenetix > Incidental Mutations

Incidental Mutation 'R6191:Nr5a2'

502532

Institutional Source

Beutler Lab

Gene Symbol

Nr5a2

Ensembl Gene

ENSMUSG00000026398

Gene Name

nuclear receptor subfamily 5, group A, member 2

Synonyms

D1Ertd308e, Ftf, LRH-1, UF2-H3B

MMRRC Submission

044331-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136842571-136960448 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136890798 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

Ref Sequence

ENSEMBL: ENSMUSP00000141495 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027649
AA Change: D391G

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: D391G

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: D330G

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: D330G

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 damaging
Transcript: ENSMUST00000192357
AA Change: D370G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: D370G

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 damaging
Transcript: ENSMUST00000192929
AA Change: D330G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: D330G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 56,002,523	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,245,538	K334N	probably benign	Het
Ano6	T	C	15: 95,948,499		probably null	Het
Ap1m2	C	A	9: 21,299,305	V343F	probably benign	Het
Apol6	T	C	15: 77,055,898	V307A	probably benign	Het
Arsi	C	A	18: 60,912,472	A78E	probably damaging	Het
B2m	A	T	2: 122,150,915	N37I	possibly damaging	Het
C8a	T	C	4: 104,845,903	K363R	probably benign	Het
Ccdc117	C	A	11: 5,534,242		probably null	Het
Ccdc154	C	A	17: 25,167,971	Q325K	probably damaging	Het
Cd300e	A	T	11: 115,054,533	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,317,393	P673Q	probably damaging	Het
Csn2	A	G	5: 87,696,026		probably null	Het
Ctnna1	T	C	18: 35,174,355	V135A	probably damaging	Het
Dnah11	T	A	12: 118,190,897	D216V	probably benign	Het
Dnah12	A	G	14: 26,710,257	H410R	probably benign	Het
Dock2	C	T	11: 34,231,652	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,177,348	N526D	unknown	Het
Frem2	T	C	3: 53,655,280	H602R	probably benign	Het
Galc	A	T	12: 98,252,034	H186Q	probably damaging	Het
Grina	T	C	15: 76,249,018	V262A	probably damaging	Het
Gse1	G	A	8: 120,553,803		probably null	Het
H2-Oa	C	A	17: 34,093,868	Q40K	probably damaging	Het
Hfm1	C	A	5: 106,886,553	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,458,746	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,889,203	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itpr2	A	G	6: 146,328,335	V1221A	probably benign	Het
K230010J24Rik	T	C	15: 76,046,369		probably null	Het
Kdm6b	T	C	11: 69,406,758	N285S	probably benign	Het
Klk1b1	T	A	7: 43,970,657	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,826,828		probably benign	Het
Lama5	T	A	2: 180,180,611	T2890S	probably damaging	Het
Lama5	T	C	2: 180,185,959	D2170G	probably damaging	Het
Lsm2	T	A	17: 34,982,155		probably benign	Het
Map3k5	G	T	10: 20,023,669	C232F	probably damaging	Het
Mapk9	T	G	11: 49,863,556	D45E	probably damaging	Het
Mpnd	T	C	17: 56,012,482	V315A	possibly damaging	Het
Msh2	A	G	17: 87,723,472	I926V	probably benign	Het
Mtcl1	C	T	17: 66,343,526	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,627,990		probably null	Het
Neo1	T	C	9: 58,889,029	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,570,859	S259G	probably benign	Het
Nkain4	G	A	2: 180,936,003	P186L	probably damaging	Het
Nkain4	G	A	2: 180,936,004	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,218,457	R73*	probably null	Het
Nup54	A	G	5: 92,424,294	L299P	probably damaging	Het
Olfr259	A	G	2: 87,107,952	V145A	probably damaging	Het
Olfr56	T	C	11: 49,135,050	L286P	probably damaging	Het
Pcdhb8	T	A	18: 37,356,226	V319E	probably benign	Het
Pcsk6	T	A	7: 65,929,127	D129E	probably benign	Het
Pld5	G	A	1: 175,970,534	T433I	probably benign	Het
Plin1	A	T	7: 79,721,599	L459H	probably benign	Het
Psd4	T	C	2: 24,394,487	V121A	probably damaging	Het
Pxdn	A	T	12: 29,982,717	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,484,515	S569P	probably damaging	Het
Rfng	T	A	11: 120,782,690	T202S	probably damaging	Het
Robo1	T	C	16: 72,933,808	S266P	probably benign	Het
Sema3c	G	T	5: 17,653,806	V68L	probably damaging	Het
Slco6c1	C	T	1: 97,066,083	R645H	possibly damaging	Het
Slfn8	A	G	11: 83,016,800	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,838,052	D144G	probably damaging	Het
St7l	T	G	3: 104,868,033	F75C	probably damaging	Het
Stard10	A	G	7: 101,343,261	I145V	probably damaging	Het
Tekt3	C	T	11: 63,078,173	A242V	probably damaging	Het
Tex44	A	G	1: 86,426,584		probably benign	Het
Thg1l	T	C	11: 45,954,161	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,346,287	I67N	probably damaging	Het
Ttn	G	A	2: 76,847,426		probably benign	Het
Ube4a	A	T	9: 44,949,753	L253*	probably null	Het
Uggt1	A	T	1: 36,162,208	N1150K	probably damaging	Het
Uhrf1bp1l	G	T	10: 89,805,318	G784C	possibly damaging	Het
Ush2a	T	A	1: 188,263,101	L23*	probably null	Het
Usp22	T	A	11: 61,174,776	N37I	probably benign	Het
Usp53	T	A	3: 122,949,741	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,415,281	K6E	probably benign	Het
Vps13d	C	T	4: 145,149,348	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,114,531	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,264,330	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,990,170		probably benign	Het
Zfp345	A	C	2: 150,473,090	Y176D	probably benign	Het
Zfp598	T	C	17: 24,677,876	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,502,994	D10G	probably damaging	Het
Zmat4	T	G	8: 23,902,067	M13R	probably damaging	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
IGL02547:Nr5a2	APN	1	136940927	missense	probably benign	0.01
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
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
X0012:Nr5a2	UTSW	1	136943292	missense	probably damaging	1.00
X0065:Nr5a2	UTSW	1	136940777	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCACTCCGATCAAGCTTAG -3'
(R):5'- TTTCCTAGCAGCTCCCTGAGTAG -3'

Sequencing Primer
(F):5'- CACTCCGATCAAGCTTAGTAATGAGG -3'
(R):5'- TAGCAGCTCCCTGAGTAGAAGTAC -3'

Posted On

2018-02-27