Mutagenetix > Incidental Mutation

Incidental Mutation 'R9330:Or7c70'

706807

Institutional Source

Beutler Lab

Gene Symbol

Or7c70

Ensembl Gene

ENSMUSG00000051190

Gene Name

olfactory receptor family 7 subfamily C member 70

Synonyms

MOR142-2_p, Olfr1356, MOR142-1, GA_x6K02T2QGN0-2962025-2962987

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R9330 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78682785-78683747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78683153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 199 (T199A)

Ref Sequence

ENSEMBL: ENSMUSP00000144815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061289] [ENSMUST00000205100]

AlphaFold

Q7TQU8

Predicted Effect

probably benign
Transcript: ENSMUST00000061289
AA Change: T199A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054345
Gene: ENSMUSG00000051190
AA Change: T199A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.6e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.4e-5	PFAM
Pfam:7tm_1	41	290	6.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205100
AA Change: T199A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144815
Gene: ENSMUSG00000051190
AA Change: T199A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	3.6e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.4e-5	PFAM
Pfam:7tm_1	41	290	6.5e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,330,833 (GRCm39)	D1127V	probably benign	Het
Ajap1	A	G	4: 153,516,961 (GRCm39)	S127P	probably damaging	Het
Cdon	T	A	9: 35,400,275 (GRCm39)	Y996*	probably null	Het
Cnr2	A	G	4: 135,644,312 (GRCm39)	D130G	probably damaging	Het
Cyp2j12	A	G	4: 95,994,791 (GRCm39)	V344A	probably damaging	Het
Cyp4a32	T	A	4: 115,478,635 (GRCm39)	C456S	probably damaging	Het
Dipk1a	A	T	5: 108,059,583 (GRCm39)	D123E	probably benign	Het
Dsc1	T	A	18: 20,243,214 (GRCm39)	T80S	possibly damaging	Het
Esyt2	G	A	12: 116,305,765 (GRCm39)	V332I	probably benign	Het
Fcgbpl1	C	T	7: 27,856,410 (GRCm39)	H2066Y	probably benign	Het
G2e3	C	T	12: 51,403,928 (GRCm39)	Q161*	probably null	Het
Galnt18	C	A	7: 111,071,271 (GRCm39)	R566L	probably benign	Het
Gatb	C	T	3: 85,559,801 (GRCm39)	P542S	probably benign	Het
Gpt	G	A	15: 76,581,215 (GRCm39)	R53H	possibly damaging	Het
Herpud2	T	C	9: 25,036,246 (GRCm39)	E138G	probably damaging	Het
Hivep1	A	G	13: 42,317,713 (GRCm39)	Y2063C	probably damaging	Het
Hoxd12	T	A	2: 74,505,733 (GRCm39)	Y101*	probably null	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Lama4	T	C	10: 38,954,722 (GRCm39)	F1092L	probably damaging	Het
Lrp1b	A	G	2: 41,012,993 (GRCm39)	S1985P		Het
Malrd1	C	T	2: 16,260,089 (GRCm39)	P2103L	unknown	Het
Mbnl1	C	A	3: 60,511,168 (GRCm39)	N41K	possibly damaging	Het
Muc16	T	C	9: 18,552,332 (GRCm39)	N4654D	probably benign	Het
Mug1	A	G	6: 121,859,723 (GRCm39)	T1241A	probably benign	Het
Ncam1	T	C	9: 49,456,097 (GRCm39)	D507G	probably benign	Het
Nfxl1	A	T	5: 72,681,451 (GRCm39)	D693E	probably benign	Het
Npr1	A	T	3: 90,365,979 (GRCm39)	I604N	possibly damaging	Het
Obscn	G	A	11: 58,971,047 (GRCm39)	H2280Y	possibly damaging	Het
Or5b105	T	A	19: 13,080,588 (GRCm39)	I27F	probably benign	Het
Pcdh10	T	C	3: 45,335,618 (GRCm39)	V644A	probably damaging	Het
Pgk2	T	A	17: 40,519,078 (GRCm39)	I117F	probably benign	Het
Pinx1	T	A	14: 64,109,777 (GRCm39)	S110T	probably benign	Het
Pira1	A	T	7: 3,742,234 (GRCm39)	C98S	probably damaging	Het
Psmd1	A	G	1: 86,061,490 (GRCm39)	Y900C	probably damaging	Het
Rab3a	C	T	8: 71,209,881 (GRCm39)	R149C	probably damaging	Het
Samsn1	T	A	16: 75,673,433 (GRCm39)	N148Y	probably damaging	Het
Sin3a	C	T	9: 57,032,481 (GRCm39)	R1142C	probably damaging	Het
Snrnp27	A	G	6: 86,653,184 (GRCm39)	C145R	probably benign	Het
Sorl1	A	C	9: 41,979,229 (GRCm39)	V423G	probably damaging	Het
Sptlc3	G	T	2: 139,388,423 (GRCm39)	M138I	probably benign	Het
Tex15	T	A	8: 34,065,143 (GRCm39)	F1524L	probably benign	Het
Tln2	T	C	9: 67,229,213 (GRCm39)	N113D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfsf14	T	A	17: 57,501,020 (GRCm39)	D17V	probably damaging	Het
Trmt44	T	C	5: 35,727,264 (GRCm39)	D317G	probably damaging	Het
Trpc2	T	C	7: 101,739,764 (GRCm39)	F563L	probably benign	Het
Ubox5	T	C	2: 130,442,165 (GRCm39)	K174R	probably benign	Het
Vrk3	T	C	7: 44,424,910 (GRCm39)	S442P	probably damaging	Het
Wdr64	A	T	1: 175,554,024 (GRCm39)	T185S	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,632 (GRCm39)	C64S	probably damaging	Het
Zfp688	A	G	7: 127,021,077 (GRCm39)	Y34H	probably damaging	Het
Zfp808	A	T	13: 62,319,974 (GRCm39)	H401L	probably benign	Het

Other mutations in Or7c70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Or7c70	APN	10	78,683,597 (GRCm39)	missense	probably damaging	1.00
IGL01343:Or7c70	APN	10	78,683,431 (GRCm39)	missense	probably damaging	0.97
IGL01576:Or7c70	APN	10	78,683,207 (GRCm39)	missense	possibly damaging	0.94
IGL02314:Or7c70	APN	10	78,683,099 (GRCm39)	missense	probably damaging	1.00
IGL02474:Or7c70	APN	10	78,682,897 (GRCm39)	missense	probably damaging	1.00
IGL02960:Or7c70	APN	10	78,683,371 (GRCm39)	missense	probably damaging	1.00
IGL03049:Or7c70	APN	10	78,683,356 (GRCm39)	missense	possibly damaging	0.81
IGL03328:Or7c70	APN	10	78,683,201 (GRCm39)	missense	probably benign	0.39
R1602:Or7c70	UTSW	10	78,682,802 (GRCm39)	missense	probably benign
R1722:Or7c70	UTSW	10	78,682,805 (GRCm39)	missense	probably benign
R2178:Or7c70	UTSW	10	78,683,612 (GRCm39)	missense	probably damaging	0.96
R3903:Or7c70	UTSW	10	78,683,132 (GRCm39)	missense	probably benign	0.00
R3904:Or7c70	UTSW	10	78,683,132 (GRCm39)	missense	probably benign	0.00
R4241:Or7c70	UTSW	10	78,683,739 (GRCm39)	missense	probably benign	0.00
R4833:Or7c70	UTSW	10	78,683,409 (GRCm39)	missense	probably damaging	1.00
R5465:Or7c70	UTSW	10	78,682,852 (GRCm39)	missense	probably benign	0.00
R5527:Or7c70	UTSW	10	78,683,609 (GRCm39)	missense	probably benign	0.02
R5606:Or7c70	UTSW	10	78,683,395 (GRCm39)	missense	probably benign	0.19
R5977:Or7c70	UTSW	10	78,683,572 (GRCm39)	missense	possibly damaging	0.95
R6219:Or7c70	UTSW	10	78,683,093 (GRCm39)	missense	possibly damaging	0.88
R6996:Or7c70	UTSW	10	78,683,351 (GRCm39)	missense	probably benign	0.00
R7136:Or7c70	UTSW	10	78,683,615 (GRCm39)	missense	probably benign	0.43
R7782:Or7c70	UTSW	10	78,683,447 (GRCm39)	missense	probably benign	0.01
R7996:Or7c70	UTSW	10	78,683,155 (GRCm39)	missense	probably damaging	1.00
R8955:Or7c70	UTSW	10	78,683,576 (GRCm39)	missense	probably damaging	1.00
R9427:Or7c70	UTSW	10	78,682,906 (GRCm39)	missense	probably damaging	0.99
R9474:Or7c70	UTSW	10	78,682,891 (GRCm39)	missense	probably damaging	0.99
Z1176:Or7c70	UTSW	10	78,682,855 (GRCm39)	missense	possibly damaging	0.73
Z1177:Or7c70	UTSW	10	78,683,290 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTAGACCCCTAGACCATTGC -3'
(R):5'- GCCATCCCTTGCACTATGTG -3'

Sequencing Primer
(F):5'- GGTAGACCCCTAGACCATTGCTATAG -3'
(R):5'- GCACTATGTGGTCATCATGAATTC -3'

Posted On

2022-04-18