Mutagenetix > Incidental Mutation

Incidental Mutation 'R9200:Or5b124'

698206

Institutional Source

Beutler Lab

Gene Symbol

Or5b124

Ensembl Gene

ENSMUSG00000045678

Gene Name

olfactory receptor family 5 subfamily B member 124

Synonyms

MOR202-19, Olfr1489, GA_x6K02T2RE5P-3965668-3966609

MMRRC Submission

068957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9200 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13610477-13611418 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13610595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 40 (N40S)

Ref Sequence

ENSEMBL: ENSMUSP00000149711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053113] [ENSMUST00000217182]

AlphaFold

Q8VFQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053113
AA Change: N40S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062444
Gene: ENSMUSG00000045678
AA Change: N40S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.7e-53	PFAM
Pfam:7tm_1	39	289	1.2e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217182
AA Change: N40S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	C	A	7: 119,179,839 (GRCm39)	Y352*	probably null	Het
Adh7	C	T	3: 137,927,567 (GRCm39)	R38C	probably benign	Het
Ankrd2	A	T	19: 42,028,871 (GRCm39)	T145S		Het
Anpep	T	C	7: 79,490,870 (GRCm39)	N241D	probably benign	Het
Apaf1	G	A	10: 90,845,102 (GRCm39)	L990F	probably benign	Het
Arsi	A	G	18: 61,049,836 (GRCm39)	T240A	possibly damaging	Het
Ascc3	A	G	10: 50,521,787 (GRCm39)	E434G	possibly damaging	Het
Atp2c2	A	T	8: 120,474,999 (GRCm39)	K535*	probably null	Het
B3galt4	A	G	17: 34,170,384 (GRCm39)		probably benign	Het
Brwd1	C	G	16: 95,839,154 (GRCm39)	C839S	probably benign	Het
Cars1	C	T	7: 143,129,654 (GRCm39)		probably null	Het
Catsperd	T	A	17: 56,935,229 (GRCm39)	V14D	unknown	Het
Ccdc150	A	C	1: 54,299,197 (GRCm39)	T58P	probably damaging	Het
Cdhr17	T	C	5: 17,006,659 (GRCm39)		probably null	Het
Cdon	A	G	9: 35,414,617 (GRCm39)	D1164G	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cic	A	C	7: 24,971,940 (GRCm39)	D557A	probably damaging	Het
Clip4	G	A	17: 72,117,884 (GRCm39)	G310R	probably damaging	Het
Dach1	G	T	14: 98,065,743 (GRCm39)	R695S	probably damaging	Het
Ddc	T	C	11: 11,765,388 (GRCm39)	N428S	possibly damaging	Het
Dnah6	G	A	6: 73,004,497 (GRCm39)	T3822I	probably benign	Het
Dnmt1	T	A	9: 20,819,896 (GRCm39)	M1535L	probably benign	Het
Edc4	T	C	8: 106,617,051 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,229 (GRCm39)	I499T	possibly damaging	Het
Etl4	A	G	2: 20,786,702 (GRCm39)	D766G	probably damaging	Het
Fes	T	C	7: 80,032,140 (GRCm39)	Q414R	probably benign	Het
Fhod1	A	G	8: 106,058,072 (GRCm39)	V844A	probably benign	Het
Fshr	A	T	17: 89,354,103 (GRCm39)	V85E	probably benign	Het
Gc	T	C	5: 89,593,236 (GRCm39)	N61S	probably benign	Het
Hapstr1	T	C	16: 8,673,898 (GRCm39)	L275P	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itga1	A	T	13: 115,104,997 (GRCm39)	I1059N	possibly damaging	Het
Itpr3	T	A	17: 27,326,636 (GRCm39)	V1426E	probably damaging	Het
Jag1	T	A	2: 136,929,044 (GRCm39)	Y804F	probably benign	Het
Lama3	A	G	18: 12,605,297 (GRCm39)	T1084A	probably benign	Het
Mdn1	A	G	4: 32,760,791 (GRCm39)	D4952G	probably benign	Het
Mmrn1	A	G	6: 60,953,860 (GRCm39)	T714A	probably damaging	Het
Nab1	T	A	1: 52,529,525 (GRCm39)	H124L	possibly damaging	Het
Nacc2	A	G	2: 25,980,118 (GRCm39)	F106S	probably damaging	Het
Nbeal1	T	C	1: 60,320,425 (GRCm39)	I2006T	probably damaging	Het
Nkpd1	C	A	7: 19,257,683 (GRCm39)	H487Q	probably benign	Het
Nop2	G	A	6: 125,117,843 (GRCm39)		probably null	Het
Or10ag54	T	A	2: 87,100,055 (GRCm39)	M310K	probably benign	Het
Otud6b	A	T	4: 14,811,712 (GRCm39)	Y310*	probably null	Het
Phyh	A	T	2: 4,932,247 (GRCm39)	Y111F	probably benign	Het
Pon3	A	G	6: 5,240,863 (GRCm39)	L106P	probably benign	Het
Ppp6r3	T	C	19: 3,519,748 (GRCm39)	D615G	probably damaging	Het
Pramel23	G	A	4: 143,423,856 (GRCm39)	P311L	possibly damaging	Het
Prdm10	G	A	9: 31,268,438 (GRCm39)	V796I	probably damaging	Het
Prkdc	G	T	16: 15,523,153 (GRCm39)	V1192F	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rab39	T	C	9: 53,597,665 (GRCm39)	N200S	probably benign	Het
Rcc2	A	G	4: 140,445,664 (GRCm39)	I441V	probably benign	Het
Rxra	G	A	2: 27,627,496 (GRCm39)	V72I	possibly damaging	Het
Ryr1	T	G	7: 28,794,524 (GRCm39)	Q1252P	probably benign	Het
Sectm1a	T	C	11: 120,960,473 (GRCm39)	Y114C	probably damaging	Het
Smim1	T	C	4: 154,108,276 (GRCm39)		probably null	Het
Smpd2	C	T	10: 41,363,561 (GRCm39)	D301N	probably benign	Het
Smyd3	T	C	1: 179,232,963 (GRCm39)	D139G	probably benign	Het
Sox13	C	T	1: 133,313,743 (GRCm39)	C399Y	probably damaging	Het
Tars3	A	G	7: 65,302,013 (GRCm39)	E179G	probably benign	Het
Tas2r138	A	G	6: 40,589,494 (GRCm39)	F251L	probably damaging	Het
Tesk1	A	G	4: 43,447,307 (GRCm39)	E565G	probably damaging	Het
Tm2d1	A	T	4: 98,246,200 (GRCm39)	F201I	possibly damaging	Het
Tom1l2	C	A	11: 60,120,942 (GRCm39)	D501Y	probably benign	Het
Trim39	G	T	17: 36,579,667 (GRCm39)	T96K	probably benign	Het
Ubash3a	A	G	17: 31,436,971 (GRCm39)	H196R	probably damaging	Het
Unc13b	A	G	4: 43,257,352 (GRCm39)	E1206G	possibly damaging	Het
Usp17lc	A	T	7: 103,068,105 (GRCm39)	T467S	probably benign	Het
Vmn1r128	T	C	7: 21,083,316 (GRCm39)	S7P	possibly damaging	Het
Vmn1r185	T	A	7: 26,311,073 (GRCm39)	H144L	possibly damaging	Het
Wfdc6b	A	T	2: 164,455,708 (GRCm39)	R12S	possibly damaging	Het
Zmynd8	A	T	2: 165,682,005 (GRCm39)	D175E	probably benign	Het

Other mutations in Or5b124

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Or5b124	APN	19	13,610,903 (GRCm39)	missense	probably benign	0.25
IGL03052:Or5b124	UTSW	19	13,611,090 (GRCm39)	missense	probably benign	0.00
R0179:Or5b124	UTSW	19	13,610,504 (GRCm39)	missense	probably damaging	1.00
R0270:Or5b124	UTSW	19	13,611,048 (GRCm39)	missense	probably damaging	1.00
R0633:Or5b124	UTSW	19	13,610,700 (GRCm39)	missense	probably damaging	0.99
R4466:Or5b124	UTSW	19	13,610,801 (GRCm39)	missense	probably damaging	0.97
R4884:Or5b124	UTSW	19	13,611,391 (GRCm39)	missense	probably benign	0.14
R5247:Or5b124	UTSW	19	13,610,778 (GRCm39)	missense	probably damaging	1.00
R5332:Or5b124	UTSW	19	13,610,729 (GRCm39)	missense	possibly damaging	0.91
R5754:Or5b124	UTSW	19	13,611,357 (GRCm39)	missense	probably damaging	0.99
R6165:Or5b124	UTSW	19	13,610,952 (GRCm39)	missense	probably benign	0.02
R6165:Or5b124	UTSW	19	13,610,507 (GRCm39)	missense	possibly damaging	0.93
R6221:Or5b124	UTSW	19	13,610,830 (GRCm39)	nonsense	probably null
R6486:Or5b124	UTSW	19	13,611,055 (GRCm39)	missense	probably damaging	1.00
R7008:Or5b124	UTSW	19	13,610,985 (GRCm39)	missense	probably damaging	1.00
R7076:Or5b124	UTSW	19	13,611,244 (GRCm39)	missense	possibly damaging	0.95
R7539:Or5b124	UTSW	19	13,610,933 (GRCm39)	nonsense	probably null
R8278:Or5b124	UTSW	19	13,610,958 (GRCm39)	missense	possibly damaging	0.87
R8708:Or5b124	UTSW	19	13,611,401 (GRCm39)	missense	probably benign	0.00
R9169:Or5b124	UTSW	19	13,610,903 (GRCm39)	missense	probably benign
R9185:Or5b124	UTSW	19	13,610,765 (GRCm39)	missense	probably benign	0.03
R9229:Or5b124	UTSW	19	13,611,414 (GRCm39)	missense	probably damaging	0.98
R9381:Or5b124	UTSW	19	13,610,647 (GRCm39)	missense	probably damaging	1.00
R9708:Or5b124	UTSW	19	13,610,760 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5b124	UTSW	19	13,610,817 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATAGGCCTTTTCACACCATG -3'
(R):5'- GTGTAGCGCATGCATTGTAG -3'

Sequencing Primer
(F):5'- TGTCCATACCTAAAATCTCACAGTG -3'
(R):5'- AGCGCATGCATTGTAGGATATGATC -3'

Posted On

2022-02-07