Mutagenetix > Incidental Mutation

Incidental Mutation 'R7542:Or4c107'

583922

Institutional Source

Beutler Lab

Gene Symbol

Or4c107

Ensembl Gene

ENSMUSG00000048226

Gene Name

olfactory receptor family 4 subfamily C member 107

Synonyms

Olfr1212, MOR233-17, GA_x6K02T2Q125-50437014-50437949, MOR233-20

MMRRC Submission

045614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7542 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88788812-88789747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88789119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 103 (E103V)

Ref Sequence

ENSEMBL: ENSMUSP00000149781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055895] [ENSMUST00000215781]

AlphaFold

Q7TR08

Predicted Effect

probably benign
Transcript: ENSMUST00000055895
AA Change: E103V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000052837
Gene: ENSMUSG00000048226
AA Change: E103V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.9e-46	PFAM
Pfam:7tm_1	39	286	7.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215781
AA Change: E103V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

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

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,848 (GRCm39)	T439S	possibly damaging	Het
Akap11	A	T	14: 78,747,732 (GRCm39)	S1552T		Het
Akap6	A	G	12: 53,116,017 (GRCm39)	E1040G	probably damaging	Het
Alms1	A	T	6: 85,606,344 (GRCm39)	T2196S	possibly damaging	Het
Alox12e	T	C	11: 70,212,582 (GRCm39)	Q89R	possibly damaging	Het
AW551984	T	A	9: 39,505,927 (GRCm39)	E423D	possibly damaging	Het
Ccpg1	T	A	9: 72,919,741 (GRCm39)	V452D	probably damaging	Het
Cdk5r1	T	C	11: 80,369,190 (GRCm39)	F286L	probably damaging	Het
Cgref1	A	T	5: 31,090,937 (GRCm39)	N292K	probably damaging	Het
Clgn	A	T	8: 84,122,174 (GRCm39)	S32C	possibly damaging	Het
Csk	C	A	9: 57,536,283 (GRCm39)		probably null	Het
Dchs2	A	G	3: 83,176,591 (GRCm39)	T850A	probably benign	Het
Defb2	T	C	8: 22,333,360 (GRCm39)	V45A	probably benign	Het
Disp2	A	G	2: 118,621,599 (GRCm39)	Q777R	probably damaging	Het
Dll1	C	T	17: 15,590,609 (GRCm39)	C369Y	probably damaging	Het
Dnah7c	A	G	1: 46,823,658 (GRCm39)	I3766V	probably benign	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam53a	A	G	5: 33,764,815 (GRCm39)	M297T	probably damaging	Het
Fat4	A	G	3: 39,035,504 (GRCm39)	D3052G	possibly damaging	Het
Fat4	A	T	3: 39,035,770 (GRCm39)	I3141F	possibly damaging	Het
Fbxw10	T	C	11: 62,741,422 (GRCm39)	V180A	probably benign	Het
Frem2	A	T	3: 53,560,000 (GRCm39)	D1502E	probably damaging	Het
Fsip2	A	T	2: 82,815,196 (GRCm39)	N3643I	possibly damaging	Het
Furin	A	G	7: 80,043,207 (GRCm39)	S335P	probably damaging	Het
Glb1l3	C	A	9: 26,729,491 (GRCm39)	A659S	possibly damaging	Het
Gm8011	A	T	14: 42,288,741 (GRCm39)	R175*	probably null	Het
Gna15	A	G	10: 81,350,136 (GRCm39)	S89P	probably damaging	Het
Grm2	A	T	9: 106,528,368 (GRCm39)	L172Q	probably damaging	Het
Iqcn	A	G	8: 71,161,415 (GRCm39)	T203A	possibly damaging	Het
Kcnc3	A	G	7: 44,245,138 (GRCm39)	D476G	possibly damaging	Het
Kcnh6	A	G	11: 105,905,387 (GRCm39)	T216A	possibly damaging	Het
Kdm2a	G	A	19: 4,383,858 (GRCm39)		probably benign	Het
Lrrc9	T	C	12: 72,553,094 (GRCm39)	I1332T	probably damaging	Het
Maea	T	C	5: 33,529,007 (GRCm39)	C317R	probably damaging	Het
Manba	T	C	3: 135,272,354 (GRCm39)	V707A	probably benign	Het
Mcph1	C	T	8: 18,681,705 (GRCm39)	R281C	probably benign	Het
Med25	A	T	7: 44,541,215 (GRCm39)	D99E	probably damaging	Het
Megf10	C	A	18: 57,322,642 (GRCm39)	D62E	probably benign	Het
Minar1	T	A	9: 89,483,964 (GRCm39)	T478S	probably damaging	Het
Myod1	A	T	7: 46,026,097 (GRCm39)	M1L	probably benign	Het
Nav3	A	T	10: 109,659,394 (GRCm39)	M741K	possibly damaging	Het
Odf2l	A	C	3: 144,859,197 (GRCm39)	K618T	probably damaging	Het
Pcdha2	G	A	18: 37,073,142 (GRCm39)	G258R	probably damaging	Het
Pcdha3	G	A	18: 37,080,784 (GRCm39)	A509T	possibly damaging	Het
Pde4dip	A	G	3: 97,673,971 (GRCm39)	V315A	possibly damaging	Het
Prim1	T	C	10: 127,853,903 (GRCm39)	V107A	probably damaging	Het
Pxdc1	A	G	13: 34,822,146 (GRCm39)		probably null	Het
Rab7b	C	T	1: 131,639,379 (GRCm39)	H182Y	probably benign	Het
Reln	C	A	5: 22,160,179 (GRCm39)	G2130V	probably damaging	Het
Retreg1	T	A	15: 25,941,296 (GRCm39)	M1K	probably null	Het
Rras	G	A	7: 44,669,766 (GRCm39)	R94Q	probably damaging	Het
Rundc3a	T	A	11: 102,290,871 (GRCm39)	L318Q	probably benign	Het
Scgb2b18	A	T	7: 32,872,747 (GRCm39)		probably null	Het
Setd1b	A	T	5: 123,286,510 (GRCm39)	M519L	unknown	Het
Tep1	G	A	14: 51,099,948 (GRCm39)	Q426*	probably null	Het
Tesk1	G	T	4: 43,445,941 (GRCm39)	M291I	probably benign	Het
Tgs1	A	G	4: 3,595,439 (GRCm39)	D536G	probably benign	Het
Thbs1	C	T	2: 117,951,655 (GRCm39)	T825M	probably damaging	Het
Tmem59l	T	C	8: 70,937,814 (GRCm39)	N189D	possibly damaging	Het
Trim30c	A	T	7: 104,031,425 (GRCm39)	D463E	possibly damaging	Het
Trpc4	A	G	3: 54,223,075 (GRCm39)	Y706C	probably damaging	Het
Ttc13	A	T	8: 125,401,842 (GRCm39)		probably null	Het
Tulp1	T	C	17: 28,582,729 (GRCm39)	K140E	probably benign	Het
Urb2	A	G	8: 124,755,327 (GRCm39)	I345V	probably benign	Het
Vmn2r43	T	C	7: 8,258,488 (GRCm39)	M242V	probably benign	Het
Zcwpw1	T	C	5: 137,817,785 (GRCm39)	V509A	probably benign	Het
Zfp202	T	C	9: 40,122,443 (GRCm39)	C402R	probably benign	Het

Other mutations in Or4c107

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Or4c107	APN	2	88,789,110 (GRCm39)	missense	probably damaging	0.98
IGL01398:Or4c107	APN	2	88,789,193 (GRCm39)	missense	probably damaging	1.00
IGL01537:Or4c107	APN	2	88,788,885 (GRCm39)	missense	probably benign	0.00
IGL02197:Or4c107	APN	2	88,789,028 (GRCm39)	missense	probably benign	0.05
IGL02557:Or4c107	APN	2	88,789,025 (GRCm39)	missense	probably benign	0.00
R0276:Or4c107	UTSW	2	88,789,099 (GRCm39)	nonsense	probably null
R0568:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R0699:Or4c107	UTSW	2	88,788,960 (GRCm39)	missense	probably benign	0.31
R1101:Or4c107	UTSW	2	88,789,328 (GRCm39)	missense	possibly damaging	0.60
R1205:Or4c107	UTSW	2	88,788,932 (GRCm39)	missense	probably benign	0.00
R1468:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R1468:Or4c107	UTSW	2	88,789,387 (GRCm39)	nonsense	probably null
R1845:Or4c107	UTSW	2	88,789,211 (GRCm39)	missense	probably damaging	0.99
R2031:Or4c107	UTSW	2	88,789,643 (GRCm39)	missense	probably benign	0.19
R2418:Or4c107	UTSW	2	88,789,380 (GRCm39)	missense	probably benign	0.01
R2419:Or4c107	UTSW	2	88,789,380 (GRCm39)	missense	probably benign	0.01
R3781:Or4c107	UTSW	2	88,789,091 (GRCm39)	nonsense	probably null
R4049:Or4c107	UTSW	2	88,789,617 (GRCm39)	missense	probably benign	0.09
R4440:Or4c107	UTSW	2	88,789,685 (GRCm39)	missense	probably benign	0.22
R4583:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4646:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4648:Or4c107	UTSW	2	88,789,556 (GRCm39)	missense	probably damaging	0.99
R4674:Or4c107	UTSW	2	88,789,216 (GRCm39)	missense	probably damaging	0.98
R4851:Or4c107	UTSW	2	88,788,930 (GRCm39)	missense	probably damaging	1.00
R4971:Or4c107	UTSW	2	88,788,863 (GRCm39)	missense	probably damaging	1.00
R5610:Or4c107	UTSW	2	88,789,170 (GRCm39)	missense	probably damaging	1.00
R5805:Or4c107	UTSW	2	88,788,985 (GRCm39)	missense	possibly damaging	0.50
R5887:Or4c107	UTSW	2	88,789,098 (GRCm39)	missense	possibly damaging	0.60
R6023:Or4c107	UTSW	2	88,789,059 (GRCm39)	missense	possibly damaging	0.76
R6118:Or4c107	UTSW	2	88,789,462 (GRCm39)	nonsense	probably null
R7490:Or4c107	UTSW	2	88,789,392 (GRCm39)	missense	probably benign	0.00
R7612:Or4c107	UTSW	2	88,788,849 (GRCm39)	missense	probably damaging	1.00
R7972:Or4c107	UTSW	2	88,789,177 (GRCm39)	nonsense	probably null
R8422:Or4c107	UTSW	2	88,789,341 (GRCm39)	missense	probably benign	0.05
R9111:Or4c107	UTSW	2	88,789,055 (GRCm39)	missense	probably benign	0.00
Z1177:Or4c107	UTSW	2	88,789,721 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGCAGTGACAATCCTCTGC -3'
(R):5'- AAATGATCAATGACATTGGGTCCAC -3'

Sequencing Primer
(F):5'- AGTGACAATCCTCTGCACTCCTG -3'
(R):5'- TCAATGACATTGGGTCCACAAAAG -3'

Posted On

2019-10-17