Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Esr1'

266523

Institutional Source

Beutler Lab

Gene Symbol

Esr1

Ensembl Gene

ENSMUSG00000019768

Gene Name

estrogen receptor 1 (alpha)

Synonyms

ESR, ER[a], ERalpha, ER-alpha, ERa, Nr3a1, Estr, Estra

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.929) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4561989-4955633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4947890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 481 (R481H)

Ref Sequence

ENSEMBL: ENSMUSP00000101215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067086] [ENSMUST00000105589] [ENSMUST00000105590]

AlphaFold

P19785

Predicted Effect

probably damaging
Transcript: ENSMUST00000067086
AA Change: R481H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070070
Gene: ENSMUSG00000019768
AA Change: R481H

Domain	Start	End	E-Value	Type
Pfam:Oest_recep	42	185	8.1e-57	PFAM
ZnF_C4	186	257	1.93e-37	SMART
HOLI	352	522	1.23e-35	SMART
Blast:HOLI	523	554	4e-11	BLAST
Pfam:ESR1_C	556	599	1.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105589
AA Change: R481H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101214
Gene: ENSMUSG00000019768
AA Change: R481H

Domain	Start	End	E-Value	Type
Pfam:Oest_recep	42	185	2.3e-64	PFAM
ZnF_C4	186	257	1.93e-37	SMART
HOLI	352	522	1.23e-35	SMART
Blast:HOLI	523	554	4e-11	BLAST
Pfam:ESR1_C	556	599	1.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105590
AA Change: R481H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101215
Gene: ENSMUSG00000019768
AA Change: R481H

Domain	Start	End	E-Value	Type
Pfam:Oest_recep	42	185	8.1e-57	PFAM
ZnF_C4	186	257	1.93e-37	SMART
HOLI	352	522	1.23e-35	SMART
Blast:HOLI	523	554	4e-11	BLAST
Pfam:ESR1_C	556	599	1.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137012

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an estrogen receptor, a member of the nuclear hormone family of intracellular receptors. The encoded protein, activated by the sex hormone estrogen, is a transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. Estrogen and its receptors are essential for sexual development and reproductive function, but also play a role in other tissues such as bone. Similar genes in human have been implicated in pathological processes including breast cancer, endometrial cancer, and osteoporosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for targeted null mutations have reduced skeletal growth and are infertile. Females exhibit hypoplastic uteri and nonovulatory ovaries, while males produce few sperm of low motility and fertilizing capacity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc163	T	C	4: 116,599,058 (GRCm39)		silent	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm5454	C	A	13: 103,494,031 (GRCm39)		noncoding transcript	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,378,106 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mtm1	T	C	X: 70,339,968 (GRCm39)		probably benign	Homo
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Otx1	A	G	11: 21,948,681 (GRCm39)		probably benign	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Pold1	C	T	7: 44,192,771 (GRCm39)		silent	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Esr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Esr1	APN	10	4,997,890 (GRCm38)	missense	probably benign	0.00
IGL01886:Esr1	APN	10	4,806,861 (GRCm39)	missense	probably damaging	0.98
IGL02174:Esr1	APN	10	4,948,003 (GRCm39)	missense	probably damaging	1.00
IGL02625:Esr1	APN	10	4,951,346 (GRCm39)	missense	probably benign	0.00
IGL02938:Esr1	APN	10	4,733,872 (GRCm39)	missense	probably damaging	1.00
IGL03232:Esr1	APN	10	4,919,270 (GRCm39)	missense	probably damaging	1.00
bertha	UTSW	10	4,696,763 (GRCm39)	nonsense	probably null
cybernetic	UTSW	10	4,733,874 (GRCm39)	missense	probably damaging	1.00
terminatrix	UTSW	10	4,696,760 (GRCm39)	missense	probably damaging	1.00
R0280:Esr1	UTSW	10	4,889,289 (GRCm39)	missense	probably damaging	0.99
R0280:Esr1	UTSW	10	4,806,951 (GRCm39)	missense	probably benign	0.05
R0479:Esr1	UTSW	10	4,947,911 (GRCm39)	missense	probably damaging	1.00
R0943:Esr1	UTSW	10	4,696,781 (GRCm39)	missense	probably damaging	1.00
R1437:Esr1	UTSW	10	4,662,571 (GRCm39)	small deletion	probably benign
R1581:Esr1	UTSW	10	4,947,905 (GRCm39)	missense	probably damaging	1.00
R1644:Esr1	UTSW	10	4,951,380 (GRCm39)	missense	probably benign	0.00
R1647:Esr1	UTSW	10	4,951,260 (GRCm39)	missense	possibly damaging	0.76
R1648:Esr1	UTSW	10	4,951,260 (GRCm39)	missense	possibly damaging	0.76
R1791:Esr1	UTSW	10	4,733,913 (GRCm39)	missense	probably damaging	1.00
R1955:Esr1	UTSW	10	4,807,125 (GRCm39)	missense	probably damaging	1.00
R2870:Esr1	UTSW	10	4,947,890 (GRCm39)	missense	probably damaging	0.98
R4323:Esr1	UTSW	10	4,951,307 (GRCm39)	missense	possibly damaging	0.48
R4727:Esr1	UTSW	10	4,951,418 (GRCm39)	missense	probably benign	0.00
R5009:Esr1	UTSW	10	4,662,394 (GRCm39)	missense	probably damaging	1.00
R5578:Esr1	UTSW	10	4,919,164 (GRCm39)	missense	probably damaging	1.00
R5610:Esr1	UTSW	10	4,951,221 (GRCm39)	missense	probably damaging	1.00
R5836:Esr1	UTSW	10	4,662,817 (GRCm39)	missense	probably benign	0.02
R5938:Esr1	UTSW	10	4,916,245 (GRCm39)	intron	probably benign
R6030:Esr1	UTSW	10	4,696,622 (GRCm39)	missense	possibly damaging	0.93
R6030:Esr1	UTSW	10	4,696,622 (GRCm39)	missense	possibly damaging	0.93
R6173:Esr1	UTSW	10	4,696,760 (GRCm39)	missense	probably damaging	1.00
R6575:Esr1	UTSW	10	4,916,301 (GRCm39)	intron	probably benign
R6888:Esr1	UTSW	10	4,807,076 (GRCm39)	missense	probably benign	0.00
R7271:Esr1	UTSW	10	4,733,874 (GRCm39)	missense	probably damaging	1.00
R7310:Esr1	UTSW	10	4,889,259 (GRCm39)	missense	probably damaging	1.00
R7552:Esr1	UTSW	10	4,806,903 (GRCm39)	missense	probably damaging	1.00
R8218:Esr1	UTSW	10	4,696,808 (GRCm39)	critical splice donor site	probably null
R8553:Esr1	UTSW	10	4,947,847 (GRCm39)	missense	probably damaging	1.00
R8801:Esr1	UTSW	10	4,916,270 (GRCm39)	missense	unknown
R8904:Esr1	UTSW	10	4,696,654 (GRCm39)	missense	possibly damaging	0.95
R8924:Esr1	UTSW	10	4,807,176 (GRCm39)	nonsense	probably null
R9261:Esr1	UTSW	10	4,919,271 (GRCm39)	missense	probably damaging	0.97
R9314:Esr1	UTSW	10	4,916,181 (GRCm39)	missense	possibly damaging	0.84
R9339:Esr1	UTSW	10	4,696,798 (GRCm39)	missense	probably damaging	0.99
R9351:Esr1	UTSW	10	4,696,763 (GRCm39)	nonsense	probably null
R9388:Esr1	UTSW	10	4,919,179 (GRCm39)	missense	probably benign	0.05
R9722:Esr1	UTSW	10	4,951,215 (GRCm39)	missense	probably benign	0.00
X0011:Esr1	UTSW	10	4,662,571 (GRCm39)	small deletion	probably benign
X0018:Esr1	UTSW	10	4,951,325 (GRCm39)	missense	probably benign
Z1088:Esr1	UTSW	10	4,662,667 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- CTCAGTGATGTGGAGGTCTC -3'
(R):5'- AGTTACTTTGCCTACTCAGCGG -3'

Sequencing Primer
(F):5'- AGGTCTCAGAGAAAGCTCCCTG -3'
(R):5'- CCTGCTTTGGCTATCATACAGAG -3'

Posted On

2015-02-18