Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Nr5a2'

530561

Institutional Source

Beutler Lab

Gene Symbol

Nr5a2

Ensembl Gene

ENSMUSG00000026398

Gene Name

nuclear receptor subfamily 5, group A, member 2

Synonyms

D1Ertd308e, UF2-H3B, Ftf, LRH-1

MMRRC Submission

044864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136770309-136888186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136810082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 431 (E431G)

Ref Sequence

ENSEMBL: ENSMUSP00000142219 (fasta)

Gene Model

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

AlphaFold

P45448

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027649
AA Change: E452G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027649
Gene: ENSMUSG00000026398
AA Change: E452G

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

possibly damaging
Transcript: ENSMUST00000168126
AA Change: E391G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129071
Gene: ENSMUSG00000026398
AA Change: E391G

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

possibly damaging
Transcript: ENSMUST00000192357
AA Change: E431G

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142219
Gene: ENSMUSG00000026398
AA Change: E431G

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

possibly damaging
Transcript: ENSMUST00000192929
AA Change: E391G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141495
Gene: ENSMUSG00000026398
AA Change: E391G

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

Meta Mutation Damage Score

0.5713

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 121,919,962 (GRCm39)		probably null	Het
Acyp1	C	T	12: 85,325,679 (GRCm39)	V107I	probably null	Het
Aftph	T	C	11: 20,676,144 (GRCm39)		probably null	Het
Agtpbp1	A	T	13: 59,692,167 (GRCm39)		probably null	Het
Arhgap15	C	A	2: 44,006,689 (GRCm39)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,235,297 (GRCm39)	V557A	probably damaging	Het
Asb3	T	A	11: 31,031,493 (GRCm39)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,759,460 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,860,262 (GRCm39)		probably null	Het
Cav2	A	T	6: 17,286,950 (GRCm39)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,784,111 (GRCm39)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,385,051 (GRCm39)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,753,448 (GRCm39)	D24G	probably benign	Het
Cmip	G	A	8: 118,163,618 (GRCm39)	G450S	probably benign	Het
Col11a1	C	T	3: 114,006,099 (GRCm39)	Q534*	probably null	Het
Col3a1	G	T	1: 45,377,782 (GRCm39)		probably benign	Het
Cox4i1	T	C	8: 121,399,969 (GRCm39)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,477,112 (GRCm39)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,873,154 (GRCm39)	I352T	probably benign	Het
Ddx52	T	C	11: 83,846,128 (GRCm39)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,323,372 (GRCm39)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,675,221 (GRCm39)	T369A	probably benign	Het
Dppa1	T	A	11: 46,516,422 (GRCm39)	I8F	unknown	Het
Ebf1	G	T	11: 44,774,641 (GRCm39)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,850,197 (GRCm39)	E270*	probably null	Het
Gclc	A	T	9: 77,695,527 (GRCm39)	R450W	probably damaging	Het
Grin2d	T	C	7: 45,511,692 (GRCm39)	E251G	probably damaging	Het
Hal	A	T	10: 93,336,539 (GRCm39)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,670,917 (GRCm39)	I185F	unknown	Het
Lrp3	T	A	7: 34,910,862 (GRCm39)	Q61L	probably benign	Het
Met	A	C	6: 17,571,466 (GRCm39)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,435,762 (GRCm39)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,432,729 (GRCm39)	W16C	probably benign	Het
Myh13	G	A	11: 67,241,245 (GRCm39)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,093,393 (GRCm39)	T453I	probably benign	Het
Nos2	A	G	11: 78,843,780 (GRCm39)	D909G	probably damaging	Het
Nsmce2	A	G	15: 59,463,573 (GRCm39)	D149G	probably benign	Het
Or52b1	C	T	7: 104,979,234 (GRCm39)	R55H	probably benign	Het
Or5ac21	T	C	16: 59,124,004 (GRCm39)	F164L	probably benign	Het
Pcbp4	C	A	9: 106,337,847 (GRCm39)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm39)		probably benign	Het
Pms2	C	T	5: 143,862,237 (GRCm39)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,303,772 (GRCm39)	L112R	probably benign	Het
Pramel30	T	C	4: 144,059,548 (GRCm39)	W420R	probably benign	Het
Prdm6	A	T	18: 53,598,118 (GRCm39)		probably benign	Het
Prob1	G	A	18: 35,788,207 (GRCm39)	R12W	probably damaging	Het
Rif1	T	A	2: 51,968,275 (GRCm39)		probably null	Het
Rpl9-ps6	A	G	19: 32,443,543 (GRCm39)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sec23ip	A	G	7: 128,354,573 (GRCm39)		silent	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,554,941 (GRCm39)		probably null	Het
Slc6a18	C	A	13: 73,826,110 (GRCm39)		probably benign	Het
Snw1	T	C	12: 87,511,480 (GRCm39)	D57G	probably damaging	Het
Sox6	C	G	7: 115,140,966 (GRCm39)	R505P	probably damaging	Het
Speg	T	C	1: 75,387,039 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,083,585 (GRCm39)	R190C	probably damaging	Het
Stard9	A	C	2: 120,528,864 (GRCm39)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,796,278 (GRCm39)	T237K	probably damaging	Het
Themis2	T	A	4: 132,523,573 (GRCm39)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,143,375 (GRCm39)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,542,090 (GRCm39)	I350T	probably benign	Het
Ttll7	C	T	3: 146,649,811 (GRCm39)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,377,650 (GRCm39)		probably null	Het
Vmn2r114	A	T	17: 23,528,850 (GRCm39)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,234,421 (GRCm39)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,980,746 (GRCm39)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,046,040 (GRCm39)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,228,050 (GRCm39)		probably null	Het
Zcchc24	T	C	14: 25,757,457 (GRCm39)	H142R	probably damaging	Het
Zfp292	T	C	4: 34,806,894 (GRCm39)	K2050R	probably damaging	Het

Other mutations in Nr5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Nr5a2	APN	1	136,818,536 (GRCm39)	missense	probably damaging	1.00
IGL01082:Nr5a2	APN	1	136,773,206 (GRCm39)	missense	probably benign	0.06
IGL02547:Nr5a2	APN	1	136,868,665 (GRCm39)	missense	probably benign	0.01
IGL02688:Nr5a2	APN	1	136,868,145 (GRCm39)	critical splice donor site	probably null
IGL02712:Nr5a2	APN	1	136,868,266 (GRCm39)	splice site	probably null
aggressivity	UTSW	1	136,810,082 (GRCm39)	missense	possibly damaging	0.78
R0356:Nr5a2	UTSW	1	136,773,430 (GRCm39)	missense	possibly damaging	0.91
R0653:Nr5a2	UTSW	1	136,876,543 (GRCm39)	missense	probably benign	0.04
R1111:Nr5a2	UTSW	1	136,810,159 (GRCm39)	splice site	probably null
R1728:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1729:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1730:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1739:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1762:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1783:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1784:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1785:Nr5a2	UTSW	1	136,879,863 (GRCm39)	missense	probably benign
R1927:Nr5a2	UTSW	1	136,872,732 (GRCm39)	missense	probably damaging	1.00
R2360:Nr5a2	UTSW	1	136,876,565 (GRCm39)	missense	probably benign
R3408:Nr5a2	UTSW	1	136,868,236 (GRCm39)	missense	probably benign
R4662:Nr5a2	UTSW	1	136,868,167 (GRCm39)	missense	probably benign	0.00
R4861:Nr5a2	UTSW	1	136,876,458 (GRCm39)	critical splice donor site	probably null
R4861:Nr5a2	UTSW	1	136,876,458 (GRCm39)	critical splice donor site	probably null
R5176:Nr5a2	UTSW	1	136,876,540 (GRCm39)	start codon destroyed	probably null	0.96
R5999:Nr5a2	UTSW	1	136,773,280 (GRCm39)	missense	probably damaging	1.00
R6191:Nr5a2	UTSW	1	136,818,536 (GRCm39)	missense	probably damaging	1.00
R6457:Nr5a2	UTSW	1	136,887,976 (GRCm39)	missense	probably benign	0.00
R8170:Nr5a2	UTSW	1	136,868,385 (GRCm39)	missense	probably benign	0.06
R9013:Nr5a2	UTSW	1	136,872,745 (GRCm39)	missense	probably damaging	1.00
R9556:Nr5a2	UTSW	1	136,818,460 (GRCm39)	missense	possibly damaging	0.62
X0012:Nr5a2	UTSW	1	136,871,030 (GRCm39)	missense	probably damaging	1.00
X0065:Nr5a2	UTSW	1	136,868,515 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTGCTTACCTGACCACCAG -3'
(R):5'- AACTGGCTCTGTCAGACTGG -3'

Sequencing Primer
(F):5'- TGCCATTGAAAGCAAATTCACATC -3'
(R):5'- GGCCTCTGTGTTGGAAATCTACAC -3'

Posted On

2018-08-01