Mutagenetix > Incidental Mutation

Incidental Mutation 'R9138:Or5b123'

694185

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

Accession Numbers

Essential gene?

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

Stock #

R9138 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13596528-13597475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13596658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 44 (M44K)

Ref Sequence

ENSEMBL: ENSMUSP00000149988 (fasta)

Gene Model

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

AlphaFold

Q8VFQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000076856
AA Change: M44K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076128
Gene: ENSMUSG00000094846
AA Change: M44K

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 null
Transcript: ENSMUST00000208347
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably null
Transcript: ENSMUST00000209005
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably null
Transcript: ENSMUST00000216688
AA Change: M1K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217061
AA Change: M44K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adgre5	A	T	8: 84,452,563 (GRCm39)	N502K	probably benign	Het
Ago4	T	A	4: 126,414,073 (GRCm39)	K73*	probably null	Het
Angpt2	T	C	8: 18,764,162 (GRCm39)	I127V	probably benign	Het
Ankhd1	TGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGC	18: 36,693,961 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,722,626 (GRCm39)	I368N	probably damaging	Het
Arhgap5	A	G	12: 52,609,146 (GRCm39)	I1374V	probably benign	Het
B3galt9	T	C	2: 34,728,920 (GRCm39)	Y240H	probably damaging	Het
Bltp3b	T	A	10: 89,615,738 (GRCm39)	V127D	probably damaging	Het
Caln1	T	C	5: 130,698,449 (GRCm39)	L157P	probably damaging	Het
Cdh9	G	T	15: 16,823,273 (GRCm39)	G85V	probably damaging	Het
Chrna4	A	G	2: 180,670,775 (GRCm39)	V327A	probably damaging	Het
Col11a2	T	C	17: 34,279,847 (GRCm39)	S1156P		Het
Cps1	G	A	1: 67,254,569 (GRCm39)	V1253M	probably damaging	Het
Crb1	T	C	1: 139,162,468 (GRCm39)	E1291G		Het
Dab1	A	T	4: 104,588,929 (GRCm39)	K518*	probably null	Het
Ddias	A	T	7: 92,507,608 (GRCm39)	I769N	possibly damaging	Het
Dlg5	G	T	14: 24,295,376 (GRCm39)	A48E	probably damaging	Het
Dok1	G	T	6: 83,009,806 (GRCm39)	A101E	probably damaging	Het
Dpf2	T	C	19: 5,948,593 (GRCm39)	N389S	probably benign	Het
Evi5l	T	A	8: 4,233,582 (GRCm39)	S22T	probably benign	Het
Garin5b	A	G	7: 4,773,406 (GRCm39)	F137S		Het
Gm5431	T	A	11: 48,780,498 (GRCm39)	R141S	probably benign	Het
Gmds	A	T	13: 32,311,035 (GRCm39)	Y197*	probably null	Het
Gprc5a	T	A	6: 135,056,164 (GRCm39)	S204T	probably damaging	Het
H2bc1	T	C	13: 24,118,112 (GRCm39)	T10A	probably benign	Het
Hoxd12	T	A	2: 74,505,902 (GRCm39)	S158T	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Kif16b	C	A	2: 142,542,476 (GRCm39)	E273D		Het
Lct	T	C	1: 128,227,894 (GRCm39)	I1200V	probably benign	Het
Lrrfip1	T	A	1: 91,038,080 (GRCm39)	L398I	probably damaging	Het
Mcm4	T	C	16: 15,447,200 (GRCm39)	E588G	probably damaging	Het
Mdga2	C	T	12: 66,615,663 (GRCm39)	G648D	possibly damaging	Het
Mfrp	A	G	9: 44,017,673 (GRCm39)	Q555R	possibly damaging	Het
Mtf1	C	T	4: 124,732,510 (GRCm39)	Q523*	probably null	Het
Naf1	A	G	8: 67,317,198 (GRCm39)	D230G	possibly damaging	Het
Nbeal1	G	T	1: 60,286,904 (GRCm39)	E909*	probably null	Het
Nxt1	C	A	2: 148,517,572 (GRCm39)	N104K	probably benign	Het
Ocstamp	T	A	2: 165,237,864 (GRCm39)	T467S	probably benign	Het
Or1j19	A	G	2: 36,676,702 (GRCm39)	H55R	probably benign	Het
Or4n4b	T	C	14: 50,536,494 (GRCm39)	I91V	probably benign	Het
Pcdhgc5	A	C	18: 37,953,892 (GRCm39)	T389P	probably benign	Het
Peak1	A	T	9: 56,164,925 (GRCm39)	V1001E	probably benign	Het
Phf11d	C	A	14: 59,602,833 (GRCm39)	C9F	probably benign	Het
Pkd1l2	T	A	8: 117,781,748 (GRCm39)	T766S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,595 (GRCm39)	N57K		Het
Ptpro	T	A	6: 137,388,113 (GRCm39)		probably null	Het
Rasa1	T	C	13: 85,369,635 (GRCm39)	I896V	possibly damaging	Het
Rasa4	T	C	5: 136,131,455 (GRCm39)	L483P	possibly damaging	Het
Septin7	A	G	9: 25,212,761 (GRCm39)	Y309C	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slco3a1	A	T	7: 74,009,664 (GRCm39)	I217N	probably damaging	Het
Son	C	T	16: 91,452,006 (GRCm39)	T251I	possibly damaging	Het
Spata31e2	C	T	1: 26,721,253 (GRCm39)	C1309Y	possibly damaging	Het
Spen	T	C	4: 141,196,797 (GRCm39)	D3566G	probably damaging	Het
Stag1	T	C	9: 100,829,335 (GRCm39)	V1089A	probably benign	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,718,958 (GRCm39)	E354G	probably damaging	Het
Timd6	A	T	11: 46,468,126 (GRCm39)	T67S	probably damaging	Het
Tmem63c	T	C	12: 87,128,601 (GRCm39)	F542S	probably damaging	Het
Trav12-2	T	C	14: 53,854,178 (GRCm39)	S51P	probably benign	Het
Upf2	T	A	2: 6,028,132 (GRCm39)	D739E	unknown	Het
Vmn1r193	A	T	13: 22,403,844 (GRCm39)	H49Q	probably damaging	Het
Vmn2r11	T	C	5: 109,201,904 (GRCm39)	D200G	probably damaging	Het
Vmn2r114	C	A	17: 23,510,578 (GRCm39)	C634F	probably damaging	Het
Zfp444	A	G	7: 6,192,690 (GRCm39)	H236R	probably damaging	Het
Zfp712	A	G	13: 67,189,318 (GRCm39)	L403P	probably damaging	Het
Zmpste24	T	G	4: 120,923,018 (GRCm39)	Y399S	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
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
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'- GATGCTGACACACGAATACG -3'
(R):5'- AACATCTGGGCAGCACATG -3'

Sequencing Primer
(F):5'- ATCACTTGCTGATGTCCAAATAC -3'
(R):5'- CAGCACATGCATTGTAGGATATG -3'

Posted On

2022-01-20