Mutagenetix > Incidental Mutation

Incidental Mutation 'R4935:Or5b123'

380333

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

042535-MU

Accession Numbers

Essential gene?

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

Stock #

R4935 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13596528-13597475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13597066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 180 (I180T)

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: I180T

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: I180T

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: I137T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000216688
AA Change: I137T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000217061
AA Change: I180T

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.8%
20x: 86.9%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	A	G	11: 6,150,442 (GRCm39)	*138W	probably null	Het
Abcb1a	T	A	5: 8,787,773 (GRCm39)		probably null	Het
Acp6	T	C	3: 97,079,060 (GRCm39)		probably null	Het
Adcyap1	A	T	17: 93,511,541 (GRCm39)	I172L	probably benign	Het
Adgrf1	A	C	17: 43,606,130 (GRCm39)	I85L	probably benign	Het
Afdn	A	T	17: 14,111,228 (GRCm39)	T1604S	probably benign	Het
Angpt2	T	C	8: 18,742,131 (GRCm39)	Y475C	probably damaging	Het
Ank2	A	G	3: 126,749,713 (GRCm39)	S439P	probably damaging	Het
Ank3	T	A	10: 69,812,033 (GRCm39)	N366K	probably damaging	Het
Ankrd11	A	G	8: 123,626,922 (GRCm39)	S87P	probably benign	Het
Ano7	T	A	1: 93,323,036 (GRCm39)	S459T	possibly damaging	Het
Asxl3	G	A	18: 22,656,369 (GRCm39)	V1460M	probably benign	Het
Atg16l1	A	C	1: 87,694,764 (GRCm39)	N147T	possibly damaging	Het
Atp10a	T	C	7: 58,463,512 (GRCm39)	V1015A	probably damaging	Het
Atxn7	T	A	14: 14,100,401 (GRCm38)	S696T	probably benign	Het
Babam1	C	T	8: 71,852,446 (GRCm39)	T184I	probably benign	Het
Blk	A	G	14: 63,618,711 (GRCm39)	S175P	possibly damaging	Het
Col5a1	T	A	2: 27,914,754 (GRCm39)	F123L	probably damaging	Het
Csmd3	T	C	15: 48,024,480 (GRCm39)	Y496C	probably damaging	Het
Dnah3	A	T	7: 119,615,700 (GRCm39)	Y1676*	probably null	Het
Fdxacb1	T	A	9: 50,683,243 (GRCm39)	M402K	probably benign	Het
Frmd5	A	G	2: 121,393,405 (GRCm39)	V141A	possibly damaging	Het
Gapvd1	G	A	2: 34,594,504 (GRCm39)	R685*	probably null	Het
Grik2	A	G	10: 49,116,826 (GRCm39)	L645P	probably damaging	Het
H2aj	T	A	6: 136,785,681 (GRCm39)	V115E	possibly damaging	Het
Hrh3	T	C	2: 179,743,061 (GRCm39)	Y189C	probably damaging	Het
Kcnc2	A	G	10: 112,108,133 (GRCm39)	T175A	probably benign	Het
Kcnv2	A	G	19: 27,300,332 (GRCm39)	Y61C	probably damaging	Het
Kif24	T	C	4: 41,394,939 (GRCm39)	R645G	probably damaging	Het
Knl1	A	G	2: 118,899,438 (GRCm39)	I380V	possibly damaging	Het
Lamb2	A	G	9: 108,364,700 (GRCm39)	I1151M	possibly damaging	Het
Leo1	A	G	9: 75,353,159 (GRCm39)	D234G	probably benign	Het
Lrp1b	T	G	2: 41,388,405 (GRCm39)	N407H	probably benign	Het
Matn2	T	C	15: 34,428,831 (GRCm39)	S732P	probably damaging	Het
Mrps30	A	T	13: 118,523,431 (GRCm39)	F114I	possibly damaging	Het
Or1l8	T	C	2: 36,817,713 (GRCm39)	N138D	probably benign	Het
Or4f17-ps1	G	A	2: 111,357,793 (GRCm39)	V45I	probably damaging	Het
Oxr1	T	C	15: 41,676,980 (GRCm39)	V179A	probably benign	Het
Plaur	A	T	7: 24,166,141 (GRCm39)	S71C	possibly damaging	Het
Plbd2	T	C	5: 120,624,786 (GRCm39)	N461D	possibly damaging	Het
Plcb2	T	A	2: 118,549,396 (GRCm39)	Y322F	probably damaging	Het
Prkab2	T	C	3: 97,569,671 (GRCm39)	V79A	probably damaging	Het
Ptpn3	A	T	4: 57,197,568 (GRCm39)	C774S	probably damaging	Het
Ring1	A	C	17: 34,242,016 (GRCm39)	L131R	probably benign	Het
Rxfp2	G	A	5: 149,975,097 (GRCm39)		probably null	Het
Selenbp1	A	T	3: 94,845,269 (GRCm39)	I122F	probably benign	Het
Septin7	A	G	9: 25,217,468 (GRCm39)	H394R	probably benign	Het
Slc1a7	G	A	4: 107,864,758 (GRCm39)	V266I	probably damaging	Het
Slc2a10	A	G	2: 165,359,578 (GRCm39)	T481A	probably benign	Het
Spmap2l	T	C	5: 77,185,200 (GRCm39)		probably null	Het
Tapbp	A	G	17: 34,144,596 (GRCm39)	M231V	probably benign	Het
Tbxas1	A	T	6: 38,999,981 (GRCm39)	N256I	probably benign	Het
Uimc1	A	G	13: 55,240,998 (GRCm39)	I30T	probably damaging	Het
Usp48	C	A	4: 137,377,669 (GRCm39)	N231K	probably benign	Het
Zfhx3	T	G	8: 109,674,482 (GRCm39)	V1844G	possibly damaging	Het
Znrf3	A	T	11: 5,233,422 (GRCm39)	C212S	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
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
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'- TACTGTTGAAAGTTTCATGCTGGC -3'
(R):5'- CACAGGTGGAAATGGCCTTC -3'

Sequencing Primer
(F):5'- AATGGCCTATGACCGTCATG -3'
(R):5'- GTGGAAATGGCCTTCTTCCTGC -3'

Posted On

2016-04-15