Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Or5b123'

487373

Institutional Source

Beutler Lab

Gene Symbol

Or5b123

Ensembl Gene

ENSMUSG00000094846

Gene Name

olfactory receptor family 5 subfamily B member 123

Synonyms

Olfr1487, MOR202-18, GA_x6K02T2RE5P-3951719-3952666

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13596528-13597475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13597249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 241 (A241V)

Ref Sequence

ENSEMBL: ENSMUSP00000149988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076856] [ENSMUST00000208347] [ENSMUST00000209005] [ENSMUST00000216688] [ENSMUST00000217061]

AlphaFold

Q8VFQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000076856
AA Change: A241V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: A241V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	306	4.8e-55	PFAM
Pfam:7TM_GPCR_Srsx	34	304	1e-6	PFAM
Pfam:7tm_1	40	289	9.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208347

Predicted Effect

probably benign
Transcript: ENSMUST00000209005
AA Change: A198V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000216688
AA Change: A198V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217061
AA Change: A241V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Cspg4b	A	G	13: 113,454,217 (GRCm39)	T88A	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,922,248 (GRCm39)	T298I	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Rgs2	T	C	1: 143,879,763 (GRCm39)	K32E	probably damaging	Het
Scyl3	A	T	1: 163,778,145 (GRCm39)	M428L	probably benign	Het
Slc30a8	A	G	15: 52,198,530 (GRCm39)	D325G	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tbx1	A	G	16: 18,402,216 (GRCm39)	F263L	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	Het

Other mutations in Or5b123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Or5b123	APN	19	13,597,110 (GRCm39)	missense	probably damaging	1.00
R0281:Or5b123	UTSW	19	13,596,849 (GRCm39)	missense	probably benign	0.00
R0847:Or5b123	UTSW	19	13,596,915 (GRCm39)	missense	probably benign	0.10
R1852:Or5b123	UTSW	19	13,596,967 (GRCm39)	missense	probably damaging	0.99
R2026:Or5b123	UTSW	19	13,596,945 (GRCm39)	missense	probably damaging	1.00
R2877:Or5b123	UTSW	19	13,596,996 (GRCm39)	missense	probably damaging	0.97
R3965:Or5b123	UTSW	19	13,596,565 (GRCm39)	missense	probably damaging	1.00
R4935:Or5b123	UTSW	19	13,597,066 (GRCm39)	missense	probably benign	0.11
R5148:Or5b123	UTSW	19	13,596,874 (GRCm39)	nonsense	probably null
R5210:Or5b123	UTSW	19	13,596,763 (GRCm39)	missense	probably damaging	1.00
R5427:Or5b123	UTSW	19	13,596,714 (GRCm39)	missense	probably benign	0.31
R5940:Or5b123	UTSW	19	13,596,517 (GRCm39)	splice site	probably null
R6110:Or5b123	UTSW	19	13,597,249 (GRCm39)	missense	probably benign	0.03
R6294:Or5b123	UTSW	19	13,596,730 (GRCm39)	missense	probably benign	0.08
R7051:Or5b123	UTSW	19	13,596,769 (GRCm39)	missense	possibly damaging	0.94
R7052:Or5b123	UTSW	19	13,596,990 (GRCm39)	missense	probably benign	0.13
R7324:Or5b123	UTSW	19	13,596,942 (GRCm39)	missense	probably benign
R7655:Or5b123	UTSW	19	13,597,197 (GRCm39)	missense	probably damaging	0.99
R7656:Or5b123	UTSW	19	13,597,197 (GRCm39)	missense	probably damaging	0.99
R7807:Or5b123	UTSW	19	13,597,285 (GRCm39)	missense	probably damaging	0.99
R7876:Or5b123	UTSW	19	13,596,628 (GRCm39)	missense	probably damaging	1.00
R8118:Or5b123	UTSW	19	13,597,109 (GRCm39)	missense	probably damaging	1.00
R8370:Or5b123	UTSW	19	13,596,661 (GRCm39)	missense	probably damaging	1.00
R9138:Or5b123	UTSW	19	13,596,658 (GRCm39)	missense	probably damaging	0.97
R9644:Or5b123	UTSW	19	13,597,344 (GRCm39)	missense	probably benign	0.41
R9664:Or5b123	UTSW	19	13,597,365 (GRCm39)	missense	probably benign	0.00
Z1176:Or5b123	UTSW	19	13,597,026 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTGATATCCCACCACTATTAGCC -3'
(R):5'- TTGACTAATCCCAGTGAAAGCAC -3'

Sequencing Primer
(F):5'- GATATCCCACCACTATTAGCCCTTTC -3'
(R):5'- AGCAACCTTCTTGAATGCATTC -3'

Posted On

2017-10-10