Mutagenetix > Incidental Mutation

Incidental Mutation 'R4833:Or7c70'

373001

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

042449-MU

Accession Numbers

Essential gene?

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

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78682785-78683747 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78683409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 113 (L113F)

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: L113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054345
Gene: ENSMUSG00000051190
AA Change: L113F

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: L113F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144815
Gene: ENSMUSG00000051190
AA Change: L113F

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,766,872 (GRCm39)	T153K	possibly damaging	Het
Abca5	A	C	11: 110,170,142 (GRCm39)	Y1318D	probably benign	Het
Adam18	A	G	8: 25,164,117 (GRCm39)	I22T	probably benign	Het
Adgrv1	T	A	13: 81,708,963 (GRCm39)	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,032,296 (GRCm39)		probably null	Het
Bdkrb2	T	C	12: 105,557,917 (GRCm39)	W53R	probably benign	Het
Blm	T	A	7: 80,116,574 (GRCm39)	I1111L	probably benign	Het
Bltp1	A	G	3: 37,019,117 (GRCm39)	I2007V	probably damaging	Het
Bmp3	T	G	5: 99,003,066 (GRCm39)	L32R	probably damaging	Het
Cdh23	T	G	10: 60,220,817 (GRCm39)	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,486,183 (GRCm39)	T560M	probably benign	Het
Cimap1a	T	C	7: 140,428,191 (GRCm39)	M1T	probably null	Het
Cmtm8	C	A	9: 114,625,233 (GRCm39)	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120 (GRCm39)	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,507,323 (GRCm39)	V252E	unknown	Het
Col6a4	A	T	9: 105,949,178 (GRCm39)	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783 (GRCm39)	S372P	probably benign	Het
Daam2	A	T	17: 49,797,173 (GRCm39)	I204N	possibly damaging	Het
Dock6	T	C	9: 21,755,576 (GRCm39)	D216G	probably damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Erich2	T	C	2: 70,364,636 (GRCm39)	Y311H	possibly damaging	Het
Gm3985	A	G	8: 33,380,505 (GRCm39)		noncoding transcript	Het
Gnb1	A	G	4: 155,627,524 (GRCm39)	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,544,980 (GRCm39)	A204V	probably null	Het
Hnrnpu	T	C	1: 178,161,459 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,009,569 (GRCm39)	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,775,889 (GRCm39)	D223V	probably damaging	Het
Kpna6	A	G	4: 129,551,572 (GRCm39)	S71P	possibly damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Lipt1	T	G	1: 37,914,610 (GRCm39)	L222R	probably damaging	Het
Lrrc41	A	G	4: 115,950,374 (GRCm39)		probably benign	Het
Lrrc59	T	C	11: 94,525,498 (GRCm39)	V98A	probably benign	Het
Mast4	A	G	13: 102,910,692 (GRCm39)		probably null	Het
Mdc1	C	T	17: 36,161,286 (GRCm39)	S733F	probably benign	Het
Mknk1	C	T	4: 115,735,383 (GRCm39)		probably benign	Het
Mtmr7	A	G	8: 41,043,505 (GRCm39)	F141S	probably damaging	Het
Myo15b	A	G	11: 115,778,428 (GRCm39)	D1G	possibly damaging	Het
Phkb	T	A	8: 86,628,540 (GRCm39)	V183E	probably damaging	Het
Pola2	T	C	19: 6,003,892 (GRCm39)	Y161C	probably damaging	Het
Psen1	G	A	12: 83,778,552 (GRCm39)	V412I	probably benign	Het
Psmc4	C	A	7: 27,746,937 (GRCm39)	G77V	probably damaging	Het
Psmd3	A	G	11: 98,578,586 (GRCm39)	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653 (GRCm38)	M84K	probably damaging	Het
Rab44	A	C	17: 29,355,311 (GRCm39)	Q19P	probably damaging	Het
Rbks	A	G	5: 31,781,859 (GRCm39)	Y314H	probably benign	Het
Rftn2	T	C	1: 55,253,399 (GRCm39)	D68G	possibly damaging	Het
Rims2	T	A	15: 39,399,310 (GRCm39)	S838R	probably damaging	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Slfn14	A	G	11: 83,169,982 (GRCm39)	L554P	probably damaging	Het
Spink2	G	T	5: 77,353,239 (GRCm39)	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Taar8b	A	T	10: 23,968,030 (GRCm39)	S55T	possibly damaging	Het
Tbca	A	G	13: 94,968,918 (GRCm39)	E35G	probably benign	Het
Tmc5	C	A	7: 118,228,052 (GRCm39)	H307Q	probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem72	T	C	6: 116,675,319 (GRCm39)	T58A	probably benign	Het
Ttc7	C	T	17: 87,641,749 (GRCm39)	P449S	probably damaging	Het
Ttf2	T	C	3: 100,868,722 (GRCm39)	E449G	probably benign	Het
Ubr4	C	A	4: 139,129,857 (GRCm39)	T659K	probably damaging	Het
Wdr1	A	G	5: 38,704,372 (GRCm39)	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,129,878 (GRCm39)	Y88H	probably benign	Het
Zfp384	A	T	6: 125,007,811 (GRCm39)	H247L	probably damaging	Het
Zfp526	C	T	7: 24,925,295 (GRCm39)	A518V	probably damaging	Het
Zfp788	T	A	7: 41,296,992 (GRCm39)	H47Q	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
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
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'- GGACTTCGGGAAGATCACAG -3'
(R):5'- TTGTGGCCATCATATCTGACCC -3'

Sequencing Primer
(F):5'- GGAATTTCCATGTTTGTACAGAAGG -3'
(R):5'- ATCATATCTGACCCCCACCTG -3'

Posted On

2016-03-01