Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Or5b123'

600902

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

045862-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13596528-13597475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13597285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 210 (T210K)

Ref Sequence

ENSEMBL: ENSMUSP00000146726 (fasta)

Gene Model

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

AlphaFold

Q8VFQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000076856
AA Change: T253K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: T253K

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 damaging
Transcript: ENSMUST00000209005
AA Change: T210K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216688
AA Change: T210K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217061
AA Change: T253K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	C	A	9: 21,447,276 (GRCm39)	T146K	probably benign	Het
Alms1	T	A	6: 85,599,958 (GRCm39)	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,831,635 (GRCm39)	I56N	probably damaging	Het
Anln	C	A	9: 22,272,176 (GRCm39)	V648F	probably damaging	Het
Arhgap29	A	G	3: 121,807,981 (GRCm39)	D1053G	probably benign	Het
Baalc	T	C	15: 38,797,412 (GRCm39)	S68P	probably benign	Het
Begain	T	C	12: 109,004,856 (GRCm39)	D52G	probably damaging	Het
Blmh	A	G	11: 76,837,040 (GRCm39)	I41V	probably benign	Het
Bpifc	T	A	10: 85,812,114 (GRCm39)	I365F	possibly damaging	Het
C2	G	T	17: 35,095,347 (GRCm39)	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,199,828 (GRCm39)	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,423,826 (GRCm39)	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,226,678 (GRCm39)	E432G	probably benign	Het
Cdh13	T	A	8: 119,010,594 (GRCm39)	M1K	probably null	Het
Cipc	T	C	12: 87,008,899 (GRCm39)	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,287,282 (GRCm39)		probably null	Het
Clock	A	T	5: 76,390,982 (GRCm39)	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,074,126 (GRCm39)	D476G	probably benign	Het
Dnaaf9	T	C	2: 130,552,785 (GRCm39)	K1092E	probably damaging	Het
Dnah7b	A	G	1: 46,253,527 (GRCm39)	I1811V	probably benign	Het
Fat1	C	A	8: 45,495,010 (GRCm39)	T4091K	probably damaging	Het
Gm10340	T	A	14: 14,826,724 (GRCm39)	N64K	probably damaging	Het
Hectd1	G	A	12: 51,792,171 (GRCm39)	R2523C	probably damaging	Het
Hgf	A	G	5: 16,782,009 (GRCm39)	H244R	probably damaging	Het
Hgs	G	T	11: 120,370,760 (GRCm39)	A567S	probably damaging	Het
Igdcc4	T	C	9: 65,041,077 (GRCm39)	V1036A	probably benign	Het
Keg1	G	A	19: 12,691,998 (GRCm39)		probably null	Het
Klhl8	A	T	5: 104,023,932 (GRCm39)	L156Q	probably damaging	Het
Lmln	T	C	16: 32,927,501 (GRCm39)	Y521H	probably benign	Het
Lrrc7	A	G	3: 157,866,124 (GRCm39)	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,074,541 (GRCm39)	I550F	probably benign	Het
Marf1	C	T	16: 13,971,753 (GRCm39)	W28*	probably null	Het
Mfsd11	T	G	11: 116,754,733 (GRCm39)	S215A	probably benign	Het
Mpped2	C	A	2: 106,575,085 (GRCm39)	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,965,751 (GRCm39)	M542V	probably benign	Het
Myh6	G	T	14: 55,179,897 (GRCm39)	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,897,777 (GRCm39)	T60A	probably benign	Het
Npm2	T	A	14: 70,889,947 (GRCm39)		probably null	Het
Or5d20-ps1	T	C	2: 87,931,909 (GRCm39)	S141G	probably benign	Het
Or7a39	T	A	10: 78,715,043 (GRCm39)	S12R	probably benign	Het
Pax9	A	T	12: 56,743,850 (GRCm39)	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,321,092 (GRCm39)	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,309,101 (GRCm39)	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,722,864 (GRCm39)	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,552,074 (GRCm39)	D192G	possibly damaging	Het
Pus3	C	G	9: 35,478,021 (GRCm39)	R418G	probably damaging	Het
Rexo1	C	T	10: 80,385,970 (GRCm39)	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688 (GRCm39)	T269A	probably damaging	Het
Sele	T	C	1: 163,881,462 (GRCm39)	V523A	probably benign	Het
Serpinb8	T	A	1: 107,532,457 (GRCm39)	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,735,033 (GRCm39)	S51A	probably benign	Het
Siglec15	A	G	18: 78,090,696 (GRCm39)	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,400,529 (GRCm39)	V44I	probably benign	Het
Slc16a13	A	G	11: 70,111,388 (GRCm39)	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164 (GRCm39)	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,512,278 (GRCm39)	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,371,371 (GRCm39)	E641G	probably benign	Het
Slf1	T	C	13: 77,194,823 (GRCm39)	D834G	probably damaging	Het
Spata31f1e	A	C	4: 42,793,885 (GRCm39)	H82Q	probably benign	Het
Stim1	T	C	7: 102,076,348 (GRCm39)	I433T	probably damaging	Het
Stra6	T	A	9: 58,057,444 (GRCm39)	I418K	probably damaging	Het
Tanc2	A	G	11: 105,758,480 (GRCm39)	N747S	probably benign	Het
Tet2	T	C	3: 133,192,302 (GRCm39)	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,807,220 (GRCm39)	I988T	probably benign	Het
Ttc41	T	A	10: 86,612,495 (GRCm39)	I1256N	probably benign	Het
Uba2	T	C	7: 33,862,638 (GRCm39)	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,847,219 (GRCm39)	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,521,910 (GRCm39)	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,060,855 (GRCm39)	Q428*	probably null	Het
Zcrb1	T	C	15: 93,289,002 (GRCm39)	D88G	probably damaging	Het
Zmym1	A	C	4: 126,941,667 (GRCm39)	I907S	probably damaging	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
R6125: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
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'- GTGATATCCCACCACTATTAGCCC -3'
(R):5'- TGACTAATCCCAGTGAAAGCAC -3'

Sequencing Primer
(F):5'- CTTGCTCCAGTATTCACACAAATG -3'
(R):5'- GTTCAGCATGGGAATGAC -3'

Posted On

2019-11-26