Mutagenetix > Incidental Mutation

Incidental Mutation 'R5239:Or8g54'

400612

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

042810-MU

Accession Numbers

Essential gene?

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

Stock #

R5239 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39706673-39707608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39707492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 274 (S274T)

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: S274T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074151
Gene: ENSMUSG00000094254
AA Change: S274T

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: S274T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (60/64)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,848 (GRCm39)	N168S	probably benign	Het
Adam3	T	A	8: 25,184,207 (GRCm39)	T598S	possibly damaging	Het
Ago1	G	T	4: 126,335,008 (GRCm39)	H405N	probably damaging	Het
Atp8b4	T	C	2: 126,234,781 (GRCm39)		probably null	Het
Baz1a	A	G	12: 54,945,129 (GRCm39)	S1409P	probably damaging	Het
Brinp2	T	C	1: 158,078,908 (GRCm39)	E305G	probably benign	Het
Bub1	T	A	2: 127,663,616 (GRCm39)	R262W	probably damaging	Het
Cish	T	A	9: 107,177,111 (GRCm39)		probably null	Het
Clip4	T	A	17: 72,106,072 (GRCm39)	I85K	probably damaging	Het
Cpsf2	T	A	12: 101,953,532 (GRCm39)	C187*	probably null	Het
Ddx51	C	A	5: 110,801,514 (GRCm39)	T54K	probably benign	Het
Drc1	A	T	5: 30,520,467 (GRCm39)	T603S	probably benign	Het
Eif3l	T	A	15: 78,973,995 (GRCm39)	M470K	possibly damaging	Het
Entpd2	A	G	2: 25,290,830 (GRCm39)	T445A	probably damaging	Het
Epha1	C	A	6: 42,341,944 (GRCm39)	V369L	possibly damaging	Het
Galnt9	T	A	5: 110,692,635 (GRCm39)	L23H	probably damaging	Het
Gm1110	A	G	9: 26,804,866 (GRCm39)	F399S	probably benign	Het
Gm43972	G	A	5: 25,866,119 (GRCm39)		noncoding transcript	Het
Gm6489	T	A	1: 31,326,351 (GRCm39)		noncoding transcript	Het
Grik5	A	T	7: 24,764,895 (GRCm39)	M82K	probably damaging	Het
Hibch	T	C	1: 52,904,767 (GRCm39)	Y121H	probably damaging	Het
Hyou1	T	A	9: 44,296,560 (GRCm39)	I495N	possibly damaging	Het
Il1rl2	T	C	1: 40,404,255 (GRCm39)	S459P	probably benign	Het
Kel	A	T	6: 41,665,048 (GRCm39)	L254*	probably null	Het
Lasp1	A	G	11: 97,690,686 (GRCm39)	K23E	probably damaging	Het
Lemd2	C	A	17: 27,422,773 (GRCm39)	R207L	possibly damaging	Het
Myh1	A	T	11: 67,106,051 (GRCm39)	Q1222L	probably benign	Het
Myh2	G	A	11: 67,083,269 (GRCm39)	V1411I	probably benign	Het
Myo1f	T	C	17: 33,820,709 (GRCm39)	F851L	probably benign	Het
Myom3	G	A	4: 135,528,303 (GRCm39)		probably benign	Het
Nbas	C	A	12: 13,491,519 (GRCm39)	L1464I	probably benign	Het
Nr2e3	G	T	9: 59,857,059 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 91,011,537 (GRCm39)	D364G	probably damaging	Het
Or2y1	A	G	11: 49,385,555 (GRCm39)	H65R	possibly damaging	Het
Or5p68	T	A	7: 107,945,853 (GRCm39)	T112S	probably benign	Het
Or9g4b	T	G	2: 85,616,002 (GRCm39)	I49S	probably damaging	Het
Otog	T	A	7: 45,936,859 (GRCm39)	S1523T	probably benign	Het
Pcnx2	A	T	8: 126,587,821 (GRCm39)		probably null	Het
Pkdcc	C	A	17: 83,523,413 (GRCm39)	H173Q	probably damaging	Het
Pkn1	A	G	8: 84,410,811 (GRCm39)	L267P	probably damaging	Het
Polr1a	A	G	6: 71,890,021 (GRCm39)	H80R	probably damaging	Het
Pwwp3a	C	T	10: 80,064,255 (GRCm39)	R14*	probably null	Het
Rag1	G	T	2: 101,473,300 (GRCm39)	A614E	possibly damaging	Het
Ryr1	T	C	7: 28,735,553 (GRCm39)	D4075G	probably damaging	Het
Sdk2	C	A	11: 113,758,859 (GRCm39)	R455L	probably damaging	Het
Smoc2	A	G	17: 14,589,227 (GRCm39)	N232S	probably benign	Het
Snd1	T	C	6: 28,545,524 (GRCm39)	L360P	probably damaging	Het
Tmem26	T	A	10: 68,587,096 (GRCm39)	F181L	probably damaging	Het
Tnrc6a	A	G	7: 122,785,842 (GRCm39)	M1512V	probably benign	Het
Tsc22d1	T	A	14: 76,655,852 (GRCm39)	I20N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r122	T	C	7: 20,868,023 (GRCm39)	T11A	possibly damaging	Het
Vpreb1a	A	T	16: 16,686,592 (GRCm39)	Y99*	probably null	Het
Wnt9b	A	T	11: 103,622,054 (GRCm39)		probably null	Het
Zfp143	A	G	7: 109,693,559 (GRCm39)	E604G	probably damaging	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
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
R9446:Or8g54	UTSW	9	39,707,342 (GRCm39)	missense	probably damaging	1.00
Z1176:Or8g54	UTSW	9	39,707,225 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCTCTTACATCTTCATCATAGCCAG -3'
(R):5'- TTGCTAAAACTGTCCTGCCC -3'

Sequencing Primer
(F):5'- TCATAGCCAGCATCCTCCGG -3'
(R):5'- GGCAGTAATTTCATATCATGTTGCCC -3'

Posted On

2016-07-06