Mutagenetix > Incidental Mutation

Incidental Mutation 'R7931:Or8g55'

643598

Institutional Source

Beutler Lab

Gene Symbol

Or8g55

Ensembl Gene

ENSMUSG00000094449

Gene Name

olfactory receptor family 8 subfamily G member 55

Synonyms

GA_x6K02T2PVTD-33572803-33573747, MOR171-17, Olfr972

MMRRC Submission

045978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7931 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

39784573-39785517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39785146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 192 (T192S)

Ref Sequence

ENSEMBL: ENSMUSP00000150389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079767] [ENSMUST00000215303] [ENSMUST00000216167]

AlphaFold

Q9EQA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079767
AA Change: T192S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078700
Gene: ENSMUSG00000094449
AA Change: T192S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	7.1e-54	PFAM
Pfam:7tm_1	41	290	2.1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215303
AA Change: T192S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216167
AA Change: T192S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

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
Acp2	A	T	2: 91,037,060 (GRCm39)		probably null	Het
Aire	G	A	10: 77,866,130 (GRCm39)	A536V	probably damaging	Het
Aox4	A	G	1: 58,294,645 (GRCm39)	I951M	probably benign	Het
Ash1l	G	T	3: 88,950,848 (GRCm39)	C2190F	probably damaging	Het
C1s1	C	T	6: 124,510,359 (GRCm39)	V363M	probably damaging	Het
Col7a1	C	A	9: 108,809,590 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,092,152 (GRCm39)		probably benign	Het
Diaph3	A	T	14: 87,352,456 (GRCm39)	D48E	possibly damaging	Het
Dnajc13	A	G	9: 104,095,763 (GRCm39)	V559A	probably benign	Het
Dzank1	T	C	2: 144,323,614 (GRCm39)	I610V	probably benign	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,201,351 (GRCm39)		probably benign	Het
Hoxa13	G	GCA	6: 52,237,620 (GRCm39)		probably null	Het
Igkv4-70	C	A	6: 69,244,975 (GRCm39)	R82L	probably damaging	Het
Lnp1	T	A	16: 56,748,281 (GRCm39)	R4*	probably null	Het
Lrrc3b	T	C	14: 15,358,018 (GRCm38)	N196S	probably benign	Het
Mlxip	A	G	5: 123,588,558 (GRCm39)	D816G	probably damaging	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Myom3	A	T	4: 135,516,947 (GRCm39)	H839L	probably benign	Het
Nebl	C	T	2: 17,381,433 (GRCm39)		probably null	Het
Ninj1	T	C	13: 49,347,432 (GRCm39)	I99T	probably damaging	Het
Nvl	C	T	1: 180,936,720 (GRCm39)		probably benign	Het
Or11g1	A	C	14: 50,651,786 (GRCm39)	M262L	probably damaging	Het
Or2l5	A	G	16: 19,334,258 (GRCm39)	S43P	possibly damaging	Het
Or4a76	T	A	2: 89,460,448 (GRCm39)	I265F	possibly damaging	Het
Otop1	A	G	5: 38,445,364 (GRCm39)	H174R	probably damaging	Het
Pcdhb16	A	G	18: 37,611,510 (GRCm39)	N157D	possibly damaging	Het
Prss44	A	C	9: 110,643,746 (GRCm39)	Q130P	probably damaging	Het
Ptprh	C	A	7: 4,574,987 (GRCm39)	S344I	probably benign	Het
Rps6kl1	T	C	12: 85,196,566 (GRCm39)	I33V	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,148,156 (GRCm39)	S110G	probably damaging	Het
Sdk2	C	A	11: 113,784,267 (GRCm39)	K157N	possibly damaging	Het
Serpina1d	A	T	12: 103,733,815 (GRCm39)	V163D	probably damaging	Het
Serpina3g	T	C	12: 104,205,428 (GRCm39)	S56P	probably benign	Het
Slc4a4	T	C	5: 89,318,640 (GRCm39)	L636P	probably benign	Het
Slc6a1	T	C	6: 114,288,863 (GRCm39)	F474S	probably benign	Het
Slco6d1	A	G	1: 98,356,141 (GRCm39)	D235G	probably damaging	Het
Srgn	A	T	10: 62,330,763 (GRCm39)	M114K	possibly damaging	Het
Syne3	A	T	12: 104,929,491 (GRCm39)	V243E	probably damaging	Het
Tbc1d5	T	C	17: 51,106,892 (GRCm39)		probably benign	Het
Tcf19	A	G	17: 35,825,804 (GRCm39)	F118L	probably damaging	Het
Tln2	A	T	9: 67,165,742 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,907,672 (GRCm39)	T1239A	probably damaging	Het
Traip	A	G	9: 107,848,241 (GRCm39)	I453M	probably benign	Het
Usp5	T	C	6: 124,801,409 (GRCm39)		probably benign	Het
Vmn1r157	C	T	7: 22,461,210 (GRCm39)	A30V	probably damaging	Het
Vmn1r233	G	A	17: 21,214,125 (GRCm39)	A275V	probably benign	Het
Vps13d	G	A	4: 144,822,854 (GRCm39)	R2976*	probably null	Het
Wdr75	T	C	1: 45,858,795 (GRCm39)	F655L	probably benign	Het
Wwp1	A	G	4: 19,650,114 (GRCm39)		probably null	Het
Zc3h4	T	C	7: 16,166,909 (GRCm39)	L747P	unknown	Het
Zfp268	G	A	4: 145,349,126 (GRCm39)	D188N	possibly damaging	Het

Other mutations in Or8g55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01805:Or8g55	APN	9	39,785,075 (GRCm39)	missense	probably damaging	1.00
IGL02008:Or8g55	APN	9	39,784,781 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or8g55	APN	9	39,784,906 (GRCm39)	missense	possibly damaging	0.73
BB008:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
BB018:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
IGL02991:Or8g55	UTSW	9	39,785,362 (GRCm39)	missense	probably benign	0.36
R0494:Or8g55	UTSW	9	39,784,698 (GRCm39)	missense	probably damaging	1.00
R0725:Or8g55	UTSW	9	39,784,643 (GRCm39)	missense	probably damaging	0.99
R1179:Or8g55	UTSW	9	39,785,371 (GRCm39)	missense	possibly damaging	0.78
R1500:Or8g55	UTSW	9	39,784,707 (GRCm39)	missense	probably benign	0.36
R1796:Or8g55	UTSW	9	39,785,267 (GRCm39)	missense	probably benign	0.12
R1970:Or8g55	UTSW	9	39,785,234 (GRCm39)	missense	probably damaging	1.00
R2018:Or8g55	UTSW	9	39,785,354 (GRCm39)	missense	probably benign	0.35
R4065:Or8g55	UTSW	9	39,784,718 (GRCm39)	missense	possibly damaging	0.86
R5254:Or8g55	UTSW	9	39,784,741 (GRCm39)	missense	possibly damaging	0.94
R5799:Or8g55	UTSW	9	39,785,392 (GRCm39)	missense	possibly damaging	0.78
R6751:Or8g55	UTSW	9	39,784,976 (GRCm39)	missense	probably benign	0.00
R7525:Or8g55	UTSW	9	39,785,435 (GRCm39)	nonsense	probably null
R7570:Or8g55	UTSW	9	39,784,751 (GRCm39)	missense	possibly damaging	0.59
R7803:Or8g55	UTSW	9	39,785,378 (GRCm39)	missense	probably benign	0.23
R8344:Or8g55	UTSW	9	39,785,231 (GRCm39)	missense	probably benign	0.42
R8859:Or8g55	UTSW	9	39,784,894 (GRCm39)	missense	probably benign	0.05
R9404:Or8g55	UTSW	9	39,784,708 (GRCm39)	missense	possibly damaging	0.56
Z1177:Or8g55	UTSW	9	39,784,819 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGGCTGTAATGGCATATGACCG -3'
(R):5'- GCAACAGCTGATATGTGTGAGC -3'

Sequencing Primer
(F):5'- CTGTAATGGCATATGACCGCTATG -3'
(R):5'- CAGCTGATATGTGTGAGCTGCAG -3'

Posted On

2020-08-07