Mutagenetix > Incidental Mutation

Incidental Mutation 'R6269:Or12e8'

507200

Institutional Source

Beutler Lab

Gene Symbol

Or12e8

Ensembl Gene

ENSMUSG00000081234

Gene Name

olfactory receptor family 12 subfamily E member 8

Synonyms

Olfr1120, MOR264-2, GA_x6K02T2Q125-48849180-48850100

MMRRC Submission

044440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R6269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87187790-87188734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87677218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 201 (H201L)

Ref Sequence

ENSEMBL: ENSMUSP00000150363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121186]

AlphaFold

Q8VGT7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121186
AA Change: H201L

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,941,033 (GRCm39)	I609N	unknown	Het
Ano10	A	T	9: 122,090,308 (GRCm39)	I277N	probably damaging	Het
Ap2b1	A	G	11: 83,237,499 (GRCm39)	D483G	probably damaging	Het
As3mt	T	A	19: 46,708,391 (GRCm39)	F226Y	probably damaging	Het
Atp10a	G	A	7: 58,453,487 (GRCm39)	R855H	possibly damaging	Het
Bin3	T	A	14: 70,374,611 (GRCm39)	H213Q	probably benign	Het
Bora	T	C	14: 99,311,103 (GRCm39)	C512R	probably damaging	Het
Camk2b	T	A	11: 5,928,497 (GRCm39)	D414V	probably damaging	Het
Ccdc27	A	T	4: 154,122,179 (GRCm39)	L233Q	unknown	Het
Ccdc73	T	C	2: 104,737,978 (GRCm39)	S25P	probably damaging	Het
Cenpf	G	A	1: 189,392,117 (GRCm39)	H572Y	probably benign	Het
Chil4	A	G	3: 106,111,487 (GRCm39)	V209A	probably damaging	Het
Clstn1	T	C	4: 149,728,524 (GRCm39)	V650A	probably benign	Het
Cox6a2	T	A	7: 127,805,437 (GRCm39)	S11C	probably benign	Het
Csf1	T	C	3: 107,656,317 (GRCm39)	E238G	probably benign	Het
Cyp2c23	T	A	19: 44,017,626 (GRCm39)	M1L	unknown	Het
Cyp4a10	T	A	4: 115,381,509 (GRCm39)	M191K	probably damaging	Het
Cyp4a14	A	G	4: 115,348,328 (GRCm39)	V383A	possibly damaging	Het
D130052B06Rik	T	G	11: 33,573,916 (GRCm39)	V171G	possibly damaging	Het
Dlgap2	A	G	8: 14,872,369 (GRCm39)	T617A	probably benign	Het
Dyrk4	T	A	6: 126,863,690 (GRCm39)	I351F	probably damaging	Het
Epg5	T	C	18: 77,991,585 (GRCm39)	V94A	probably benign	Het
Fam111a	A	G	19: 12,565,807 (GRCm39)	T519A	probably benign	Het
Gdpd4	A	G	7: 97,623,669 (GRCm39)	S314G	probably damaging	Het
Gm9758	T	A	5: 14,962,274 (GRCm39)	K111N	possibly damaging	Het
Gpr137b	A	T	13: 13,538,096 (GRCm39)	V285E	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Itgal	T	A	7: 126,929,389 (GRCm39)	L1102Q	probably null	Het
Kctd19	T	A	8: 106,121,992 (GRCm39)	Y185F	possibly damaging	Het
Kif5b	A	G	18: 6,223,558 (GRCm39)	L317P	possibly damaging	Het
Klhl42	C	A	6: 146,993,805 (GRCm39)	A259E	probably damaging	Het
Lrrc2	A	G	9: 110,810,017 (GRCm39)	D351G	probably damaging	Het
Med12l	A	G	3: 59,135,243 (GRCm39)	E797G	probably damaging	Het
Mink1	A	G	11: 70,489,813 (GRCm39)	E63G	probably damaging	Het
Nek9	T	C	12: 85,379,103 (GRCm39)		probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Parp6	G	A	9: 59,557,295 (GRCm39)	V627I	probably benign	Het
Pclo	C	T	5: 14,572,108 (GRCm39)	Q498*	probably null	Het
Pdlim5	T	C	3: 142,018,086 (GRCm39)	T170A	possibly damaging	Het
Pgap1	A	T	1: 54,587,167 (GRCm39)	Y136*	probably null	Het
Pgghg	T	A	7: 140,526,097 (GRCm39)	N563K	probably damaging	Het
Plxnb2	A	G	15: 89,044,916 (GRCm39)	M1143T	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prc1	G	A	7: 79,959,175 (GRCm39)	R381Q	probably damaging	Het
Psph	A	T	5: 129,843,529 (GRCm39)	I175N	probably damaging	Het
Rbbp8nl	T	A	2: 179,923,305 (GRCm39)	K131*	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sde2	G	A	1: 180,683,371 (GRCm39)	V42I	probably benign	Het
Slc25a3	G	A	10: 90,952,963 (GRCm39)	R314*	probably null	Het
Spag9	A	G	11: 93,935,333 (GRCm39)	N48S	probably benign	Het
Srp54b	T	C	12: 55,302,757 (GRCm39)	M351T	possibly damaging	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf2	A	G	6: 42,604,342 (GRCm39)	L679P	probably damaging	Het
Tnrc6b	T	A	15: 80,764,944 (GRCm39)	N815K	probably benign	Het
Usp17la	A	T	7: 104,509,557 (GRCm39)	Q54L	possibly damaging	Het
Vmn2r92	T	A	17: 18,387,036 (GRCm39)	I125K	probably benign	Het
Xrra1	T	C	7: 99,566,679 (GRCm39)	Y732H	probably damaging	Het
Zfp131	A	G	13: 120,227,941 (GRCm39)	S603P	possibly damaging	Het
Zfp28	G	T	7: 6,396,612 (GRCm39)	S349I	probably benign	Het

Other mutations in Or12e8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Or12e8	APN	2	87,187,889 (GRCm39)	missense	possibly damaging	0.82
IGL01680:Or12e8	APN	2	87,188,249 (GRCm39)	missense	probably damaging	1.00
IGL02210:Or12e8	APN	2	87,188,347 (GRCm39)	missense	probably damaging	1.00
R0624:Or12e8	UTSW	2	87,188,026 (GRCm39)	nonsense	probably null
R0849:Or12e8	UTSW	2	87,188,609 (GRCm39)	missense	probably benign	0.00
R1298:Or12e8	UTSW	2	87,188,414 (GRCm39)	missense	probably benign	0.20
R2309:Or12e8	UTSW	2	87,188,298 (GRCm39)	missense	probably damaging	1.00
R4237:Or12e8	UTSW	2	87,188,597 (GRCm39)	missense	probably damaging	1.00
R4291:Or12e8	UTSW	2	87,188,419 (GRCm39)	missense	probably benign	0.00
R5679:Or12e8	UTSW	2	87,187,889 (GRCm39)	missense	possibly damaging	0.82
R5939:Or12e8	UTSW	2	87,188,048 (GRCm39)	missense	possibly damaging	0.55
R6551:Or12e8	UTSW	2	87,677,005 (GRCm39)	missense	possibly damaging	0.89
R7024:Or12e8	UTSW	2	87,188,066 (GRCm39)	missense	probably benign	0.06
R7242:Or12e8	UTSW	2	87,188,426 (GRCm39)	missense	probably benign	0.13
R7359:Or12e8	UTSW	2	87,188,555 (GRCm39)	missense	possibly damaging	0.77
R7444:Or12e8	UTSW	2	87,188,444 (GRCm39)	missense	possibly damaging	0.94
R7488:Or12e8	UTSW	2	87,188,597 (GRCm39)	missense	probably damaging	1.00
R7646:Or12e8	UTSW	2	87,188,102 (GRCm39)	missense	probably benign	0.00
R7711:Or12e8	UTSW	2	87,187,871 (GRCm39)	missense	probably benign	0.02
R8963:Or12e8	UTSW	2	87,187,950 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AATGCAAACAGCTGGCAGC -3'
(R):5'- AGTTTGTCAGTACCAGGGGAATG -3'

Sequencing Primer
(F):5'- AGCAGTCTCCTGGCTTGG -3'
(R):5'- GCATGGACTTTGGTCTCAAATAG -3'

Posted On

2018-03-15