Mutagenetix > Incidental Mutation

Incidental Mutation 'R1742:Or4c123'

200400

Institutional Source

Beutler Lab

Gene Symbol

Or4c123

Ensembl Gene

ENSMUSG00000075094

Gene Name

olfactory receptor family 4 subfamily C member 123

Synonyms

GA_x6K02T2Q125-50741934-50741017, MOR237-1, Olfr1230

MMRRC Submission

039774-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R1742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89126695-89127612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89126768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 282 (P282H)

Ref Sequence

ENSEMBL: ENSMUSP00000097375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099787] [ENSMUST00000216144]

AlphaFold

Q8VG58

Predicted Effect

probably damaging
Transcript: ENSMUST00000099787
AA Change: P282H

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

SMART Domains

Protein: ENSMUSP00000097375
Gene: ENSMUSG00000075094
AA Change: P282H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	5.7e-44	PFAM
Pfam:7tm_1	39	285	6.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216144

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	C	A	18: 36,758,318 (GRCm39)	A1004E	probably damaging	Het
Arfgef2	A	G	2: 166,708,900 (GRCm39)	S1071G	probably damaging	Het
Arhgef5	T	A	6: 43,257,133 (GRCm39)	I1228N	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bptf	A	G	11: 107,001,777 (GRCm39)	V445A	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Ccdc171	T	A	4: 83,599,521 (GRCm39)	S779T	probably damaging	Het
Ccdc54	T	C	16: 50,410,601 (GRCm39)	K222E	possibly damaging	Het
Cebpe	A	G	14: 54,949,057 (GRCm39)	V120A	probably benign	Het
Clhc1	T	A	11: 29,507,647 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,673,762 (GRCm39)	G985S	unknown	Het
Col6a3	T	A	1: 90,741,516 (GRCm39)	I639F	probably damaging	Het
Cryga	C	A	1: 65,142,280 (GRCm39)	V38L	probably benign	Het
Dll3	T	C	7: 27,993,848 (GRCm39)	T530A	probably benign	Het
Dnaaf9	A	T	2: 130,582,315 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,495,843 (GRCm39)	P3205S	probably benign	Het
Dpp10	T	A	1: 123,372,935 (GRCm39)	Y224F	probably damaging	Het
Eif1ad10	C	T	12: 88,216,453 (GRCm39)	D140N	unknown	Het
Fcrl2	T	C	3: 87,166,350 (GRCm39)	T142A	possibly damaging	Het
Fyttd1	C	T	16: 32,725,923 (GRCm39)	R175*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,071,045 (GRCm39)		probably null	Het
Gse1	T	A	8: 121,293,689 (GRCm39)	V205E	probably damaging	Het
Herc4	C	A	10: 63,123,728 (GRCm39)	N461K	probably benign	Het
Ifi206	G	A	1: 173,309,537 (GRCm39)	T153I	probably benign	Het
Iqca1	T	C	1: 90,025,773 (GRCm39)	I341V	probably benign	Het
Itsn1	T	G	16: 91,613,847 (GRCm39)		probably null	Het
Kcnk5	T	A	14: 20,191,925 (GRCm39)	Y412F	probably benign	Het
Lemd1	T	A	1: 132,156,036 (GRCm39)	I26K	probably damaging	Het
Lipc	A	T	9: 70,727,811 (GRCm39)	L12Q	probably damaging	Het
Lrrtm1	C	A	6: 77,221,074 (GRCm39)	P177Q	probably damaging	Het
Mcph1	G	A	8: 18,657,379 (GRCm39)	G73R	probably benign	Het
Msantd5f6	T	C	4: 73,319,447 (GRCm39)	D99G	probably damaging	Het
Myh11	A	T	16: 14,037,908 (GRCm39)	L899Q	probably damaging	Het
Myo18a	G	T	11: 77,732,293 (GRCm39)	R822L	probably damaging	Het
Nav3	T	C	10: 109,605,074 (GRCm39)	T1000A	probably benign	Het
Nox4	T	C	7: 86,945,026 (GRCm39)	V94A	possibly damaging	Het
Or10ag53	T	A	2: 87,083,122 (GRCm39)	N280K	probably benign	Het
Or7g32	A	G	9: 19,389,337 (GRCm39)	S67P	probably damaging	Het
Oxr1	T	C	15: 41,713,955 (GRCm39)	L679P	probably damaging	Het
Pcdhb17	T	C	18: 37,619,629 (GRCm39)	I473T	probably damaging	Het
Pgbd5	T	A	8: 125,107,046 (GRCm39)	E165D	probably damaging	Het
Pgpep1l	A	T	7: 67,886,802 (GRCm39)	V169D	probably damaging	Het
Phf12	C	T	11: 77,900,312 (GRCm39)	T136I	probably benign	Het
Pif1	T	A	9: 65,495,132 (GRCm39)	M14K	probably benign	Het
Pigr	A	G	1: 130,772,823 (GRCm39)	E347G	probably damaging	Het
Plekha3	G	A	2: 76,513,223 (GRCm39)	E103K	possibly damaging	Het
Ptgs2	A	G	1: 149,980,150 (GRCm39)	I363V	probably damaging	Het
Rasl11a	T	A	5: 146,783,805 (GRCm39)		probably null	Het
Recql	T	C	6: 142,310,298 (GRCm39)	T511A	probably damaging	Het
Rgl2	T	A	17: 34,156,197 (GRCm39)		probably null	Het
Rpp25l	T	C	4: 41,712,763 (GRCm39)	Y4C	probably damaging	Het
Sass6	T	G	3: 116,401,126 (GRCm39)	C156G	probably damaging	Het
Sgta	T	G	10: 80,882,111 (GRCm39)	N288T	probably damaging	Het
Slco1a4	T	A	6: 141,770,771 (GRCm39)	T282S	probably benign	Het
Smad4	T	C	18: 73,808,968 (GRCm39)	R100G	probably damaging	Het
Sox8	C	T	17: 25,786,915 (GRCm39)	V263M	probably damaging	Het
Sp8	A	G	12: 118,813,552 (GRCm39)	H469R	probably benign	Het
Spata1	A	T	3: 146,175,378 (GRCm39)		probably null	Het
Taar7a	G	A	10: 23,869,117 (GRCm39)	S88F	probably damaging	Het
Tnks2	T	C	19: 36,853,661 (GRCm39)	L749S	probably damaging	Het
Tollip	C	A	7: 141,446,592 (GRCm39)	R19L	probably damaging	Het
Tox2	G	A	2: 163,067,446 (GRCm39)	R55H	probably benign	Het
Vmn2r27	T	C	6: 124,177,636 (GRCm39)	E456G	possibly damaging	Het
Vmn2r77	T	A	7: 86,444,543 (GRCm39)	N65K	probably benign	Het
Vwf	T	C	6: 125,644,513 (GRCm39)	M2456T	probably benign	Het
Zfp526	A	G	7: 24,923,939 (GRCm39)	N66S	possibly damaging	Het
Zic1	T	C	9: 91,243,629 (GRCm39)	Y446C	probably damaging	Het

Other mutations in Or4c123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Or4c123	APN	2	89,126,799 (GRCm39)	missense	probably benign	0.40
IGL01419:Or4c123	APN	2	89,126,689 (GRCm39)	unclassified	probably benign
IGL01644:Or4c123	APN	2	89,126,976 (GRCm39)	missense	probably benign	0.01
IGL01653:Or4c123	APN	2	89,127,471 (GRCm39)	missense	probably benign	0.08
IGL01674:Or4c123	APN	2	89,127,014 (GRCm39)	missense	probably damaging	1.00
IGL02124:Or4c123	APN	2	89,127,407 (GRCm39)	missense	probably benign	0.01
IGL03053:Or4c123	APN	2	89,126,789 (GRCm39)	missense	probably damaging	0.97
R0504:Or4c123	UTSW	2	89,127,083 (GRCm39)	missense	probably damaging	0.99
R1473:Or4c123	UTSW	2	89,127,250 (GRCm39)	nonsense	probably null
R1899:Or4c123	UTSW	2	89,127,014 (GRCm39)	missense	probably damaging	1.00
R1900:Or4c123	UTSW	2	89,127,014 (GRCm39)	missense	probably damaging	1.00
R1945:Or4c123	UTSW	2	89,127,128 (GRCm39)	missense	probably damaging	1.00
R2935:Or4c123	UTSW	2	89,127,604 (GRCm39)	missense	possibly damaging	0.69
R3421:Or4c123	UTSW	2	89,126,897 (GRCm39)	missense	probably benign	0.03
R5185:Or4c123	UTSW	2	89,126,731 (GRCm39)	missense	probably benign
R5377:Or4c123	UTSW	2	89,127,506 (GRCm39)	missense	probably damaging	0.99
R5400:Or4c123	UTSW	2	89,127,257 (GRCm39)	missense	probably damaging	1.00
R6083:Or4c123	UTSW	2	89,127,368 (GRCm39)	missense	probably damaging	1.00
R6086:Or4c123	UTSW	2	89,127,198 (GRCm39)	missense	probably damaging	1.00
R6155:Or4c123	UTSW	2	89,126,765 (GRCm39)	missense	probably damaging	1.00
R6218:Or4c123	UTSW	2	89,127,306 (GRCm39)	missense	probably damaging	0.98
R6361:Or4c123	UTSW	2	89,126,990 (GRCm39)	missense	probably damaging	0.98
R8053:Or4c123	UTSW	2	89,127,540 (GRCm39)	missense	possibly damaging	0.69
R8905:Or4c123	UTSW	2	89,126,801 (GRCm39)	missense	possibly damaging	0.89
Z1176:Or4c123	UTSW	2	89,127,297 (GRCm39)	missense	probably damaging	1.00
Z1177:Or4c123	UTSW	2	89,126,796 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ACACAAGCCCTGCTGTGACAAG -3'
(R):5'- TGAAGGAAGGCGGAAAGCTCTCTC -3'

Sequencing Primer
(F):5'- CCCTGCTGTGACAAGGATAG -3'
(R):5'- GGAAAGCTCTCTCCACATGTAG -3'

Posted On

2014-05-23