Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Or52e7'

356034

Institutional Source

Beutler Lab

Gene Symbol

Or52e7

Ensembl Gene

ENSMUSG00000073915

Gene Name

olfactory receptor family 52 subfamily E member 7

Synonyms

GA_x6K02T2PBJ9-7664016-7664969, MOR32-1, Olfr676

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104680774-104685360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104684798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 131 (D131V)

Ref Sequence

ENSEMBL: ENSMUSP00000151474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098162] [ENSMUST00000219602]

AlphaFold

Q8VGZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000098162
AA Change: D131V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095765
Gene: ENSMUSG00000073915
AA Change: D131V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	41	317	3e-113	PFAM
Pfam:7TM_GPCR_Srsx	45	316	4.5e-7	PFAM
Pfam:7tm_1	51	301	1.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219042

Predicted Effect

probably damaging
Transcript: ENSMUST00000219602
AA Change: D131V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,301,986 (GRCm39)	I196V	probably benign	Het
Aass	T	A	6: 23,075,855 (GRCm39)	K761*	probably null	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,315,582 (GRCm39)		probably null	Het
Acad11	C	T	9: 103,972,764 (GRCm39)	Q486*	probably null	Het
Actl9	T	C	17: 33,652,909 (GRCm39)	L323P	probably benign	Het
Adam12	T	A	7: 133,518,191 (GRCm39)	I650F	possibly damaging	Het
Adgre4	A	T	17: 56,091,971 (GRCm39)	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,483,446 (GRCm39)	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,489,213 (GRCm39)	T320A	probably benign	Het
Arl15	T	A	13: 114,104,261 (GRCm39)	C133S	probably benign	Het
Ascc3	A	G	10: 50,596,760 (GRCm39)	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,256,213 (GRCm39)	F249L	probably damaging	Het
AU021092	G	T	16: 5,030,057 (GRCm39)	N319K	probably benign	Het
Bbs4	A	G	9: 59,230,802 (GRCm39)	V440A	probably benign	Het
Bpifb4	G	T	2: 153,792,305 (GRCm39)	G450C	probably damaging	Het
Cadm1	G	A	9: 47,730,120 (GRCm39)		probably benign	Het
Ccser2	G	A	14: 36,660,654 (GRCm39)	L500F	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,851,081 (GRCm39)	V207E	probably damaging	Het
Cfap251	A	G	5: 123,460,676 (GRCm39)	K1213E	probably benign	Het
Cfap65	T	C	1: 74,958,067 (GRCm39)	D947G	probably damaging	Het
Cntn6	T	C	6: 104,781,321 (GRCm39)	V397A	probably benign	Het
Cpox	T	A	16: 58,498,332 (GRCm39)	Y388*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dda1	T	A	8: 71,926,454 (GRCm39)	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,804,639 (GRCm39)	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 140,937,173 (GRCm39)	I338F	probably damaging	Het
Fbxo42	A	G	4: 140,927,120 (GRCm39)	T467A	probably benign	Het
Flt4	T	C	11: 49,517,635 (GRCm39)	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,414,416 (GRCm39)	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,114,517 (GRCm39)		noncoding transcript	Het
Grid2	A	G	6: 64,642,899 (GRCm39)	D887G	probably benign	Het
Grm6	C	T	11: 50,753,837 (GRCm39)	P714S	probably damaging	Het
Gsto2	A	G	19: 47,873,095 (GRCm39)	I157V	probably benign	Het
Il15ra	A	G	2: 11,723,156 (GRCm39)		probably null	Het
Impg1	A	G	9: 80,221,682 (GRCm39)	F713L	probably benign	Het
Jag1	T	A	2: 136,936,376 (GRCm39)	T373S	probably benign	Het
Kcnh3	T	A	15: 99,139,826 (GRCm39)	L904Q	probably benign	Het
Kctd19	C	A	8: 106,117,061 (GRCm39)	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,533,750 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 93,006,557 (GRCm39)	I37V	probably damaging	Het
Lama5	G	A	2: 179,833,489 (GRCm39)	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,316,847 (GRCm39)	C65*	probably null	Het
Lingo1	A	G	9: 56,527,542 (GRCm39)	F349S	probably damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Med17	A	T	9: 15,181,656 (GRCm39)	H31Q	probably damaging	Het
Med23	A	T	10: 24,769,546 (GRCm39)	L476F	probably damaging	Het
Mgst1	A	T	6: 138,127,836 (GRCm39)	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Muc4	A	T	16: 32,576,220 (GRCm39)		probably benign	Het
Myo18a	C	T	11: 77,708,491 (GRCm39)	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,404,238 (GRCm39)	R903L	probably benign	Het
Nme1	A	G	11: 93,856,734 (GRCm39)	I9T	probably damaging	Het
Nmt2	T	A	2: 3,323,678 (GRCm39)	I357N	probably benign	Het
Nphp4	T	C	4: 152,581,116 (GRCm39)	F100S	probably damaging	Het
Oca2	C	A	7: 55,904,750 (GRCm39)	T72K	probably benign	Het
Or52e4	A	T	7: 104,706,086 (GRCm39)	D211V	probably damaging	Het
Or52z15	G	A	7: 103,332,269 (GRCm39)	V105M	probably damaging	Het
Or7h8	T	C	9: 20,123,921 (GRCm39)	I92T	probably damaging	Het
Or9s15	C	A	1: 92,525,160 (GRCm39)	D306E	probably benign	Het
Plce1	A	T	19: 38,713,451 (GRCm39)	T1240S	probably benign	Het
Plch1	A	T	3: 63,606,917 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,623 (GRCm39)	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,992 (GRCm39)	T641A	probably benign	Het
Rab32	A	G	10: 10,426,598 (GRCm39)	L116P	probably benign	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Rorc	G	C	3: 94,299,017 (GRCm39)	E391Q	probably null	Het
Saa4	A	T	7: 46,381,051 (GRCm39)	F24I	possibly damaging	Het
Sall1	T	A	8: 89,757,788 (GRCm39)	K772M	probably damaging	Het
Sdk1	T	G	5: 142,170,986 (GRCm39)	L1950V	probably damaging	Het
Sil1	T	C	18: 35,399,949 (GRCm39)	E352G	probably benign	Het
Slc26a3	C	T	12: 31,497,773 (GRCm39)	P59L	probably damaging	Het
Smco2	T	C	6: 146,763,440 (GRCm39)		probably benign	Het
Sppl3	A	G	5: 115,241,372 (GRCm39)		probably null	Het
St6gal2	T	A	17: 55,803,345 (GRCm39)	V360D	probably damaging	Het
Stard9	G	A	2: 120,536,194 (GRCm39)	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,719,626 (GRCm39)	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,544,556 (GRCm39)	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmem132c	T	A	5: 127,641,560 (GRCm39)		probably benign	Het
Tnn	A	T	1: 159,975,338 (GRCm39)	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 29,981,895 (GRCm39)	V217F	probably damaging	Het
Trpm1	G	T	7: 63,893,248 (GRCm39)	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,167,348 (GRCm39)	E182G	probably damaging	Het
Ubr4	A	G	4: 139,198,647 (GRCm39)	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,509,856 (GRCm39)	R154*	probably null	Het
Vmn2r17	T	G	5: 109,575,849 (GRCm39)	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,627,428 (GRCm39)	N56I	probably benign	Het
Zdhhc21	A	T	4: 82,738,571 (GRCm39)	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,277,278 (GRCm39)	D122E	probably benign	Het
Zfp804a	A	T	2: 82,086,926 (GRCm39)	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,392,353 (GRCm39)	T1291I	probably benign	Het

Other mutations in Or52e7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02034:Or52e7	APN	7	104,684,597 (GRCm39)	missense	probably benign
IGL02244:Or52e7	APN	7	104,685,152 (GRCm39)	missense	probably damaging	1.00
IGL03493:Or52e7	APN	7	104,685,151 (GRCm39)	missense	probably damaging	1.00
R1181:Or52e7	UTSW	7	104,685,021 (GRCm39)	missense	probably damaging	1.00
R1223:Or52e7	UTSW	7	104,684,773 (GRCm39)	missense	probably benign	0.01
R1460:Or52e7	UTSW	7	104,684,915 (GRCm39)	missense	possibly damaging	0.80
R1768:Or52e7	UTSW	7	104,685,157 (GRCm39)	missense	probably benign	0.00
R2256:Or52e7	UTSW	7	104,685,026 (GRCm39)	missense	probably benign	0.00
R2257:Or52e7	UTSW	7	104,685,026 (GRCm39)	missense	probably benign	0.00
R3846:Or52e7	UTSW	7	104,684,896 (GRCm39)	missense	probably benign	0.40
R4486:Or52e7	UTSW	7	104,684,510 (GRCm39)	missense	probably benign	0.00
R4488:Or52e7	UTSW	7	104,684,510 (GRCm39)	missense	probably benign	0.00
R4489:Or52e7	UTSW	7	104,684,510 (GRCm39)	missense	probably benign	0.00
R4598:Or52e7	UTSW	7	104,685,280 (GRCm39)	missense	probably benign	0.19
R4599:Or52e7	UTSW	7	104,685,280 (GRCm39)	missense	probably benign	0.00
R4855:Or52e7	UTSW	7	104,684,858 (GRCm39)	missense	probably damaging	0.99
R5083:Or52e7	UTSW	7	104,684,618 (GRCm39)	missense	probably damaging	1.00
R5743:Or52e7	UTSW	7	104,685,363 (GRCm39)	splice site	probably null
R5798:Or52e7	UTSW	7	104,685,344 (GRCm39)	missense	probably benign	0.00
R6279:Or52e7	UTSW	7	104,684,878 (GRCm39)	missense	probably benign	0.25
R6300:Or52e7	UTSW	7	104,684,878 (GRCm39)	missense	probably benign	0.25
R7400:Or52e7	UTSW	7	104,684,417 (GRCm39)	missense	probably benign
R7672:Or52e7	UTSW	7	104,684,750 (GRCm39)	missense	probably damaging	1.00
R7698:Or52e7	UTSW	7	104,685,114 (GRCm39)	missense	probably benign	0.01
R8468:Or52e7	UTSW	7	104,684,953 (GRCm39)	missense	probably damaging	0.97
R9297:Or52e7	UTSW	7	104,684,830 (GRCm39)	missense	probably damaging	1.00
R9318:Or52e7	UTSW	7	104,684,830 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGACTGACAGGACCTTTCATC -3'
(R):5'- CATGTGCTCACAGTAGGTATGTG -3'

Sequencing Primer
(F):5'- AGGACCTTTCATCAACCCATG -3'
(R):5'- CTCACAGTAGGTATGTGGGATAATTC -3'

Posted On

2015-10-21