Mutagenetix > Incidental Mutation

Incidental Mutation 'R4851:Or4c107'

373521

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

042463-MU

Accession Numbers

Essential gene?

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

Stock #

R4851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88788812-88789747 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88788930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 40 (N40S)

Ref Sequence

ENSEMBL: ENSMUSP00000149781 (fasta)

Gene Model

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

AlphaFold

Q7TR08

Predicted Effect

probably damaging
Transcript: ENSMUST00000055895
AA Change: N40S

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

SMART Domains

Protein: ENSMUSP00000052837
Gene: ENSMUSG00000048226
AA Change: N40S

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 damaging
Transcript: ENSMUST00000215781
AA Change: N40S

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

Meta Mutation Damage Score

0.5920

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (99/99)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,890 (GRCm39)	R4148S	probably benign	Het
Acoxl	T	A	2: 127,886,311 (GRCm39)	L182Q	possibly damaging	Het
Aldh7a1	T	C	18: 56,665,088 (GRCm39)	T364A	possibly damaging	Het
App	T	C	16: 84,853,322 (GRCm39)	D252G	unknown	Het
Arid1a	A	G	4: 133,408,672 (GRCm39)	I1945T	unknown	Het
Arsk	C	T	13: 76,213,398 (GRCm39)		probably null	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Best1	C	A	19: 9,969,062 (GRCm39)	R218L	probably damaging	Het
Cacna1e	A	T	1: 154,312,300 (GRCm39)		probably null	Het
Cdh13	C	T	8: 119,484,129 (GRCm39)	T130I	possibly damaging	Het
Cela2a	T	C	4: 141,552,902 (GRCm39)	E25G	probably benign	Het
Cgnl1	T	A	9: 71,632,314 (GRCm39)	I346F	probably damaging	Het
Chil6	C	T	3: 106,297,244 (GRCm39)	G299D	possibly damaging	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cnpy1	T	C	5: 28,450,738 (GRCm39)	I23V	probably benign	Het
Col6a3	T	A	1: 90,707,011 (GRCm39)	Y2034F	unknown	Het
Coq10b	T	C	1: 55,110,903 (GRCm39)	Y224H	probably benign	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Cyb5rl	T	G	4: 106,941,510 (GRCm39)	S252A	probably benign	Het
Cyp2ab1	T	A	16: 20,133,814 (GRCm39)	R125S	probably damaging	Het
Dclk1	G	A	3: 55,387,811 (GRCm39)	G86R	probably damaging	Het
Dmtn	A	G	14: 70,842,254 (GRCm39)	M382T	probably damaging	Het
Dnaaf8	A	G	16: 4,794,138 (GRCm39)		noncoding transcript	Het
Dnah12	T	A	14: 26,437,784 (GRCm39)	L471*	probably null	Het
Dock10	A	T	1: 80,526,874 (GRCm39)	S782T	probably benign	Het
Egfem1	C	A	3: 29,206,032 (GRCm39)	H90N	possibly damaging	Het
Ephb6	T	A	6: 41,595,079 (GRCm39)	W698R	probably benign	Het
Exoc4	T	A	6: 33,895,343 (GRCm39)	C787S	probably damaging	Het
Exosc8	A	T	3: 54,639,523 (GRCm39)		probably benign	Het
Galc	T	A	12: 98,193,533 (GRCm39)	Q352L	probably benign	Het
Galns	A	G	8: 123,327,272 (GRCm39)	Y167H	probably damaging	Het
Glb1l	T	C	1: 75,185,528 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,033,750 (GRCm39)		noncoding transcript	Het
Gm7694	T	C	1: 170,128,794 (GRCm39)	N245S	probably benign	Het
Gmcl1	T	G	6: 86,681,538 (GRCm39)	K385N	possibly damaging	Het
Gramd1c	A	T	16: 43,810,200 (GRCm39)	W463R	probably damaging	Het
Gtpbp8	C	G	16: 44,566,433 (GRCm39)	A90P	probably benign	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Hcar1	T	C	5: 124,016,731 (GRCm39)	E320G	probably benign	Het
Hhatl	T	C	9: 121,618,077 (GRCm39)	D226G	probably damaging	Het
Hoxc5	T	A	15: 102,923,801 (GRCm39)	I199N	probably damaging	Het
Iars2	T	C	1: 185,059,845 (GRCm39)	D121G	probably damaging	Het
Il5ra	T	A	6: 106,715,432 (GRCm39)	H134L	probably benign	Het
Isl2	T	A	9: 55,452,271 (GRCm39)	I281N	possibly damaging	Het
Kcnk13	T	C	12: 99,932,383 (GRCm39)	F60L	probably damaging	Het
Kdelr3	C	T	15: 79,409,066 (GRCm39)	T85M	possibly damaging	Het
Kdf1	A	T	4: 133,255,676 (GRCm39)	H131L	probably damaging	Het
Mipol1	T	A	12: 57,379,087 (GRCm39)	L182I	probably damaging	Het
Morc1	T	G	16: 48,381,980 (GRCm39)	S513R	probably benign	Het
Moxd2	A	T	6: 40,855,756 (GRCm39)	L611H	probably damaging	Het
Mpped2	T	C	2: 106,529,724 (GRCm39)		probably benign	Het
Mrpl51	T	C	6: 125,170,270 (GRCm39)	V92A	probably benign	Het
Mrps26	G	A	2: 130,405,681 (GRCm39)		probably benign	Het
Mrps5	A	G	2: 127,432,665 (GRCm39)	T29A	probably benign	Het
Mustn1	A	G	14: 30,601,517 (GRCm39)		probably benign	Het
Ncor2	G	A	5: 125,110,431 (GRCm39)	P858S	possibly damaging	Het
Nfasc	A	G	1: 132,529,759 (GRCm39)	F807S	probably damaging	Het
Nup50	G	A	15: 84,823,912 (GRCm39)	V422I	probably benign	Het
Or10x1	T	A	1: 174,196,562 (GRCm39)	F26L	probably benign	Het
Or13a25	A	T	7: 140,247,226 (GRCm39)	M2L	probably benign	Het
Or1e25	A	T	11: 73,493,883 (GRCm39)	H159L	probably damaging	Het
Or2ag13	A	T	7: 106,473,221 (GRCm39)	V77D	probably damaging	Het
Or3a1d	C	A	11: 74,237,769 (GRCm39)	V214L	probably benign	Het
Or8b44	T	A	9: 38,410,319 (GRCm39)	M118K	probably damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Osbpl8	T	A	10: 111,040,661 (GRCm39)	M1K	probably null	Het
Pcdhb22	A	C	18: 37,652,087 (GRCm39)	D185A	possibly damaging	Het
Pcdhga8	G	T	18: 37,949,457 (GRCm39)	R291L	probably damaging	Het
Saysd1	A	T	14: 20,127,672 (GRCm39)	L84Q	possibly damaging	Het
Slc41a1	T	C	1: 131,758,508 (GRCm39)	I50T	probably benign	Het
Smg7	G	A	1: 152,720,020 (GRCm39)	P834S	probably benign	Het
Speer4a1	C	T	5: 26,243,210 (GRCm39)	V92M	probably damaging	Het
Srf	T	C	17: 46,860,400 (GRCm39)	T461A	probably benign	Het
Ssu72	A	G	4: 155,800,053 (GRCm39)	D72G	possibly damaging	Het
Suco	T	C	1: 161,661,761 (GRCm39)	E890G	probably damaging	Het
Tenm3	A	G	8: 48,763,656 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,515,091 (GRCm39)	E7G	probably null	Het
Tm9sf2	A	G	14: 122,378,616 (GRCm39)	K240R	probably benign	Het
Tmem52	T	A	4: 155,554,825 (GRCm39)	Y149*	probably null	Het
Tpgs2	A	T	18: 25,284,305 (GRCm39)	Y68N	possibly damaging	Het
Vmn1r205	T	A	13: 22,777,074 (GRCm39)	E9D	probably benign	Het
Vmn2r32	A	G	7: 7,482,953 (GRCm39)	V7A	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,156 (GRCm39)	Y661H	possibly damaging	Het
Vps39	G	A	2: 120,152,312 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Zfp641	T	A	15: 98,186,598 (GRCm39)	S342C	probably damaging	Het
Zfp961	T	C	8: 72,722,847 (GRCm39)		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
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
R7542:Or4c107	UTSW	2	88,789,119 (GRCm39)	missense	probably benign	0.01
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'- GTTTGCATATCAGTACACATGTCTG -3'
(R):5'- TGTGTCATACAGCCTTCAAAGG -3'

Sequencing Primer
(F):5'- ACTTAGAGAGCCTGCATATGC -3'
(R):5'- AGGAAATGGTTTTGCTTTCATTGAC -3'

Posted On

2016-03-01