Mutagenetix > Incidental Mutation

Incidental Mutation 'R4065:Or8g55'

316066

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

040972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4065 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39784573-39785517 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39784718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 49 (I49T)

Ref Sequence

ENSEMBL: ENSMUSP00000150498 (fasta)

Gene Model

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

AlphaFold

Q9EQA2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079767
AA Change: I49T

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

SMART Domains

Protein: ENSMUSP00000078700
Gene: ENSMUSG00000094449
AA Change: I49T

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: I49T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216167
AA Change: I49T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	T	3: 89,966,073 (GRCm39)	R178*	probably null	Het
Abcc9	T	C	6: 142,591,616 (GRCm39)	E769G	probably damaging	Het
Adcy9	C	A	16: 4,106,298 (GRCm39)	V939F	probably damaging	Het
Atg2a	T	C	19: 6,308,396 (GRCm39)	F1643S	probably damaging	Het
B430305J03Rik	A	G	3: 61,271,646 (GRCm39)		probably benign	Het
C2cd5	A	G	6: 143,019,397 (GRCm39)	I306T	probably benign	Het
Camk1d	A	T	2: 5,570,584 (GRCm39)	F26I	probably damaging	Het
Cant1	G	T	11: 118,298,823 (GRCm39)	D313E	probably benign	Het
Dhx29	T	A	13: 113,101,276 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,492,405 (GRCm39)	I1182V	probably benign	Het
Dnajc21	A	G	15: 10,451,639 (GRCm39)		probably null	Het
Dnajc7	T	C	11: 100,492,607 (GRCm39)	Y38C	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dync2i2	A	G	2: 29,922,820 (GRCm39)	L309P	probably benign	Het
Fat4	A	T	3: 39,063,346 (GRCm39)	H4434L	probably benign	Het
Fbxo16	T	A	14: 65,508,278 (GRCm39)	N31K	probably damaging	Het
Foxj3	T	C	4: 119,467,206 (GRCm39)	I183T	probably benign	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fshr	T	C	17: 89,293,394 (GRCm39)	Y428C	probably damaging	Het
Gm11437	A	G	11: 84,055,337 (GRCm39)	V93A	probably benign	Het
Gm12258	C	T	11: 58,749,352 (GRCm39)	L176F	probably benign	Het
Grem1	A	G	2: 113,580,033 (GRCm39)	L156P	probably damaging	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Lamc3	C	A	2: 31,835,270 (GRCm39)	H1530Q	probably benign	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mga	T	C	2: 119,777,483 (GRCm39)	V1846A	probably damaging	Het
Mthfd1l	A	G	10: 3,982,242 (GRCm39)	H483R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Mvp	A	G	7: 126,595,489 (GRCm39)	V207A	probably damaging	Het
Nsun2	T	C	13: 69,760,579 (GRCm39)		probably null	Het
Or13a26	T	C	7: 140,284,182 (GRCm39)	L6P	probably benign	Het
Pcnx4	T	C	12: 72,603,134 (GRCm39)		probably null	Het
Plxna4	T	A	6: 32,213,300 (GRCm39)	K637*	probably null	Het
Ppm1d	A	G	11: 85,236,678 (GRCm39)	T486A	probably benign	Het
Prb1a	T	A	6: 132,184,658 (GRCm39)	Q325L	unknown	Het
Sf3a1	T	A	11: 4,117,824 (GRCm39)	F195L	probably damaging	Het
Spcs2	A	G	7: 99,494,012 (GRCm39)	I164T	possibly damaging	Het
Ssbp4	T	C	8: 71,052,210 (GRCm39)	T77A	possibly damaging	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uhrf1	T	A	17: 56,625,020 (GRCm39)	I521N	probably damaging	Het
Uros	A	G	7: 133,304,057 (GRCm39)		probably null	Het
Usp47	A	G	7: 111,652,623 (GRCm39)	D100G	probably benign	Het
Utp6	T	C	11: 79,837,073 (GRCm39)	R337G	probably damaging	Het
Vcan	T	C	13: 89,828,006 (GRCm39)	T3147A	probably damaging	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Zfp654	G	A	16: 64,606,288 (GRCm39)	T638M	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
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
R7931:Or8g55	UTSW	9	39,785,146 (GRCm39)	missense	possibly damaging	0.86
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'- CCATCTCTTTCTAAATAGAACTCCCAG -3'
(R):5'- AGCGGTCATATGCCATTACAGC -3'

Sequencing Primer
(F):5'- TCCCAGAAGAAAATGTTCCAAGG -3'
(R):5'- TTACAGCCAACATCTGACATTCTG -3'

Posted On

2015-05-15