Mutagenetix > Incidental Mutation

Incidental Mutation 'R7996:Or7c70'

616097

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

046036-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R7996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78682785-78683747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78683155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 198 (V198E)

Ref Sequence

ENSEMBL: ENSMUSP00000144815 (fasta)

Gene Model

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

AlphaFold

Q7TQU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000061289
AA Change: V198E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000054345
Gene: ENSMUSG00000051190
AA Change: V198E

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 damaging
Transcript: ENSMUST00000205100
AA Change: V198E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144815
Gene: ENSMUSG00000051190
AA Change: V198E

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,977,490 (GRCm39)	N394K	probably damaging	Het
Amotl1	T	C	9: 14,505,001 (GRCm39)	D69G	possibly damaging	Het
Arid5a	G	T	1: 36,356,526 (GRCm39)	C121F	unknown	Het
Ccne2	C	A	4: 11,201,347 (GRCm39)	Q292K	probably benign	Het
Cfap70	A	G	14: 20,459,194 (GRCm39)	I723T	probably benign	Het
Chrnd	A	G	1: 87,118,828 (GRCm39)	T62A	probably damaging	Het
Cobll1	T	A	2: 64,981,329 (GRCm39)	H87L	possibly damaging	Het
Derl1	T	G	15: 57,741,970 (GRCm39)	M122L	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Efcab12	T	C	6: 115,800,378 (GRCm39)	Q215R	probably benign	Het
Eif3m	T	C	2: 104,831,694 (GRCm39)	N289D	probably benign	Het
Elapor2	A	C	5: 9,512,881 (GRCm39)	K958N	probably damaging	Het
Emsy	T	A	7: 98,242,888 (GRCm39)	I1084L	probably benign	Het
Garin3	T	C	11: 46,295,889 (GRCm39)	V87A		Het
Garre1	G	T	7: 33,963,024 (GRCm39)	T216K	possibly damaging	Het
Gm3336	A	T	8: 71,173,146 (GRCm39)	T53S	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Hr	G	A	14: 70,801,043 (GRCm39)	W676*	probably null	Het
Katnb1	A	T	8: 95,824,643 (GRCm39)	I546F	possibly damaging	Het
Memo1	A	T	17: 74,565,491 (GRCm39)	L24Q	probably damaging	Het
Mmel1	C	G	4: 154,976,912 (GRCm39)	Q529E	probably benign	Het
Naip5	A	G	13: 100,358,164 (GRCm39)	F1024S	probably damaging	Het
Or4c58	T	C	2: 89,674,759 (GRCm39)	D186G	probably benign	Het
Paics	A	G	5: 77,107,276 (GRCm39)	K110R	probably benign	Het
Pate13	G	A	9: 35,820,650 (GRCm39)	R34H	probably damaging	Het
Pcdhgc4	C	T	18: 37,950,459 (GRCm39)	S625F	probably damaging	Het
Pnpla8	T	A	12: 44,329,766 (GRCm39)	L106*	probably null	Het
Rabggtb	T	C	3: 153,617,605 (GRCm39)	H31R	probably damaging	Het
Rhot1	G	A	11: 80,148,363 (GRCm39)	C601Y	probably damaging	Het
Rps27	A	G	3: 90,120,309 (GRCm39)	V53A	probably benign	Het
Sdr39u1	C	A	14: 56,135,344 (GRCm39)	G200*	probably null	Het
Sesn1	T	A	10: 41,770,929 (GRCm39)	Y153*	probably null	Het
Slc25a40	A	G	5: 8,493,653 (GRCm39)	T168A	probably damaging	Het
Smoc2	C	T	17: 14,595,730 (GRCm39)	R286*	probably null	Het
Smtnl2	T	A	11: 72,291,200 (GRCm39)	K349N	probably damaging	Het
Snx16	G	T	3: 10,500,509 (GRCm39)	D153E	probably benign	Het
Spata31e5	C	T	1: 28,817,487 (GRCm39)	E182K	probably damaging	Het
Ssu72	A	C	4: 155,816,450 (GRCm39)	N144T	probably benign	Het
Stk40	C	A	4: 126,030,667 (GRCm39)	L296I	probably damaging	Het
Sult3a2	T	C	10: 33,644,254 (GRCm39)	M225V	probably damaging	Het
Syne2	T	C	12: 76,051,441 (GRCm39)	L4057P	probably damaging	Het
Tbx2	A	G	11: 85,725,616 (GRCm39)	H189R	probably damaging	Het
Tead1	T	C	7: 112,441,311 (GRCm39)		probably null	Het
Tgs1	T	C	4: 3,605,842 (GRCm39)	S786P	probably damaging	Het
Tmco4	T	C	4: 138,748,172 (GRCm39)	Y251H	probably damaging	Het
Trim14	A	T	4: 46,533,086 (GRCm39)	C76S	probably benign	Het
Tubgcp6	T	A	15: 88,993,231 (GRCm39)	Q506L	possibly damaging	Het
Vmn2r50	A	T	7: 9,781,795 (GRCm39)	F317I	probably damaging	Het
Vwa5a	T	A	9: 38,639,124 (GRCm39)	Y335*	probably null	Het
Zgrf1	C	T	3: 127,389,573 (GRCm39)	T1257I	possibly damaging	Het
Zpr1	A	G	9: 46,184,863 (GRCm39)	N87D	possibly damaging	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
R8955:Or7c70	UTSW	10	78,683,576 (GRCm39)	missense	probably damaging	1.00
R9330:Or7c70	UTSW	10	78,683,153 (GRCm39)	missense	probably benign	0.00
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'- ATGTGGCTGCAGAGCTAAGG -3'
(R):5'- GTGGTCATCATGAATTCTTGCTTC -3'

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

Posted On

2020-01-23