Mutagenetix > Incidental Mutation

Incidental Mutation 'R9446:Or8g54'

713949

Institutional Source

Beutler Lab

Gene Symbol

Or8g54

Ensembl Gene

ENSMUSG00000094254

Gene Name

olfactory receptor family 8 subfamily G member 54

Synonyms

MOR171-7, Olfr969, GA_x6K02T2PVTD-33492981-33493916

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R9446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39706673-39707608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39707342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 224 (S224C)

Ref Sequence

ENSEMBL: ENSMUSP00000149551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074566] [ENSMUST00000213266]

AlphaFold

Q8VG89

Predicted Effect

probably damaging
Transcript: ENSMUST00000074566
AA Change: S224C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: S224C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.2e-50	PFAM
Pfam:7tm_1	41	290	2.7e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213266
AA Change: S224C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	G	2: 120,976,530 (GRCm39)	I90S	probably null	Het
Adck2	G	T	6: 39,551,221 (GRCm39)		probably benign	Het
Adgrf3	G	T	5: 30,401,957 (GRCm39)	D690E	probably benign	Het
Aff3	C	T	1: 38,574,337 (GRCm39)	G175S	probably benign	Het
Atf7	T	C	15: 102,459,923 (GRCm39)	H159R	probably damaging	Het
BB014433	GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,091,810 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,925,491 (GRCm39)	K2241R	probably damaging	Het
Cacna1s	A	G	1: 136,045,362 (GRCm39)	E1670G	probably benign	Het
Clca4b	C	T	3: 144,638,134 (GRCm39)	A43T	probably benign	Het
Clock	T	A	5: 76,396,288 (GRCm39)	I154L	probably benign	Het
Dnah10	A	T	5: 124,823,677 (GRCm39)	D566V	probably damaging	Het
Eml1	T	C	12: 108,481,465 (GRCm39)	W443R	probably damaging	Het
Ghitm	A	G	14: 36,853,606 (GRCm39)	I78T	possibly damaging	Het
Gm4181	A	T	14: 51,873,062 (GRCm39)	M1K	probably null	Het
Gm9195	T	C	14: 72,717,957 (GRCm39)	Y187C	probably damaging	Het
Htt	A	G	5: 34,919,272 (GRCm39)	M8V	probably benign	Het
Ighv1-9	T	C	12: 114,547,388 (GRCm39)	Y51C	probably benign	Het
Kif13b	G	A	14: 64,984,470 (GRCm39)	E636K	probably damaging	Het
Mamdc4	T	A	2: 25,453,645 (GRCm39)	M1179L	probably benign	Het
Map3k4	G	A	17: 12,451,375 (GRCm39)	A1506V	probably damaging	Het
Mbtd1	T	C	11: 93,834,508 (GRCm39)	S622P	unknown	Het
Med13l	T	A	5: 118,876,567 (GRCm39)	D914E	probably benign	Het
Mettl9	T	A	7: 120,675,531 (GRCm39)	D310E	possibly damaging	Het
Myh13	T	G	11: 67,255,325 (GRCm39)	V1565G	probably benign	Het
Nrf1	A	G	6: 30,090,019 (GRCm39)	T33A	probably damaging	Het
Oas1d	A	G	5: 121,054,947 (GRCm39)	K173R	probably benign	Het
Or12e10	A	T	2: 87,640,199 (GRCm39)	M12L	probably benign	Het
Or1e34	T	A	11: 73,778,530 (GRCm39)	T223S	probably benign	Het
Or4k6	A	G	14: 50,475,974 (GRCm39)	Y123H	probably damaging	Het
Pde6a	T	A	18: 61,419,067 (GRCm39)	D814E	probably benign	Het
Pilrb2	T	C	5: 137,869,429 (GRCm39)	D57G	possibly damaging	Het
Psg21	T	A	7: 18,388,865 (GRCm39)	T76S	probably benign	Het
Ralgapa1	A	G	12: 55,754,808 (GRCm39)	V1161A	probably damaging	Het
Rtl1	C	G	12: 109,556,604 (GRCm39)	*1745S	probably null	Het
Samd8	T	C	14: 21,833,769 (GRCm39)	C296R		Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfmbt1	T	C	14: 30,506,697 (GRCm39)	I247T	possibly damaging	Het
Smarca4	G	A	9: 21,547,155 (GRCm39)	A227T	unknown	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Trpm7	T	A	2: 126,672,185 (GRCm39)		probably null	Het
Wnt10a	C	A	1: 74,842,728 (GRCm39)	F401L	possibly damaging	Het
Zfp970	A	T	2: 177,167,064 (GRCm39)	K213*	probably null	Het

Other mutations in Or8g54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Or8g54	APN	9	39,706,674 (GRCm39)	start codon destroyed	probably null	1.00
IGL02108:Or8g54	APN	9	39,706,808 (GRCm39)	missense	probably damaging	0.99
IGL02999:Or8g54	APN	9	39,706,752 (GRCm39)	missense	probably damaging	1.00
IGL03089:Or8g54	APN	9	39,706,977 (GRCm39)	missense	probably benign	0.18
IGL03107:Or8g54	APN	9	39,707,475 (GRCm39)	missense	probably benign	0.03
R1232:Or8g54	UTSW	9	39,707,264 (GRCm39)	missense	probably benign	0.18
R1682:Or8g54	UTSW	9	39,706,954 (GRCm39)	nonsense	probably null
R1796:Or8g54	UTSW	9	39,707,301 (GRCm39)	missense	possibly damaging	0.82
R2152:Or8g54	UTSW	9	39,706,943 (GRCm39)	missense	probably benign	0.01
R4534:Or8g54	UTSW	9	39,707,296 (GRCm39)	missense	probably benign	0.00
R4941:Or8g54	UTSW	9	39,707,160 (GRCm39)	missense	possibly damaging	0.78
R5239:Or8g54	UTSW	9	39,707,492 (GRCm39)	missense	probably damaging	0.99
R5602:Or8g54	UTSW	9	39,707,490 (GRCm39)	missense	possibly damaging	0.94
R6681:Or8g54	UTSW	9	39,706,710 (GRCm39)	missense	probably benign	0.02
R6819:Or8g54	UTSW	9	39,706,905 (GRCm39)	missense	probably benign	0.00
R7066:Or8g54	UTSW	9	39,707,420 (GRCm39)	missense	probably benign	0.00
R7138:Or8g54	UTSW	9	39,707,086 (GRCm39)	nonsense	probably null
R8995:Or8g54	UTSW	9	39,707,313 (GRCm39)	missense	possibly damaging	0.52
Z1176:Or8g54	UTSW	9	39,707,225 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GTGCCACATCTCACACAGTCTG -3'
(R):5'- AAAGGGTTCAGCATGGGCAC -3'

Sequencing Primer
(F):5'- CACACAGTCTGCATGTTAAGAGTGC -3'
(R):5'- TTCAGCATGGGCACAACAATG -3'

Posted On

2022-06-15