Mutagenetix > Incidental Mutation

Incidental Mutation 'R8193:Or4c105'

635271

Institutional Source

Beutler Lab

Gene Symbol

Or4c105

Ensembl Gene

ENSMUSG00000064084

Gene Name

olfactory receptor family 4 subfamily C member 105

Synonyms

Olfr1202, GA_x6K02T2Q125-50290367-50291296, MOR232-7

MMRRC Submission

067616-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88643145-88648446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88647803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 96 (M96K)

Ref Sequence

ENSEMBL: ENSMUSP00000071935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072057]

AlphaFold

Q8VF98

Predicted Effect

probably damaging
Transcript: ENSMUST00000072057
AA Change: M96K

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

SMART Domains

Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: M96K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6.8e-47	PFAM
Pfam:7tm_1	39	285	1.2e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,213,517 (GRCm39)	V48E	possibly damaging	Het
4930522H14Rik	A	G	4: 109,381,529 (GRCm39)	L83S	probably benign	Het
Abhd18	C	A	3: 40,884,660 (GRCm39)	T233K	probably benign	Het
Adam26a	A	T	8: 44,022,273 (GRCm39)	C406S	probably damaging	Het
Anp32e	G	A	3: 95,836,710 (GRCm39)		probably benign	Het
Cd33	C	T	7: 43,181,696 (GRCm39)	A155T	possibly damaging	Het
Cdc25c	A	T	18: 34,882,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,737,825 (GRCm39)	S2673P	probably benign	Het
Chodl	T	C	16: 78,738,412 (GRCm39)	S127P	probably damaging	Het
Clstn2	A	G	9: 97,465,683 (GRCm39)	S103P	probably damaging	Het
Crocc2	T	A	1: 93,117,888 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,622 (GRCm39)	L507P	probably damaging	Het
Dcbld2	T	A	16: 58,284,373 (GRCm39)		probably null	Het
Dnah14	T	C	1: 181,515,770 (GRCm39)	Y1991H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Edrf1	C	T	7: 133,263,606 (GRCm39)	T971I	possibly damaging	Het
Ermap	A	G	4: 119,041,140 (GRCm39)	I290T	possibly damaging	Het
Eva1a	A	T	6: 82,068,921 (GRCm39)	S83C	probably benign	Het
Fcgbp	A	T	7: 27,804,276 (GRCm39)	N1795Y	probably damaging	Het
Foxg1	A	G	12: 49,432,377 (GRCm39)	H370R	possibly damaging	Het
Gabra1	A	G	11: 42,037,968 (GRCm39)	Y217H	probably damaging	Het
Gm3086	A	G	12: 70,016,264 (GRCm39)	N62S	noncoding transcript	Het
Hmcn1	A	T	1: 150,453,228 (GRCm39)	Y5362*	probably null	Het
Igkv5-37	C	A	6: 69,940,796 (GRCm39)		probably benign	Het
Ints3	A	G	3: 90,307,929 (GRCm39)	V647A	possibly damaging	Het
Itga1	A	G	13: 115,104,991 (GRCm39)		probably null	Het
Limk2	T	C	11: 3,297,691 (GRCm39)	K481E	possibly damaging	Het
Lonp2	G	T	8: 87,358,091 (GRCm39)	G104V	probably damaging	Het
Lpar5	T	C	6: 125,058,302 (GRCm39)	S8P	probably benign	Het
Map2k7	T	C	8: 4,294,059 (GRCm39)	F202L	probably benign	Het
Mark1	T	G	1: 184,660,249 (GRCm39)	M136L	probably damaging	Het
Myo15b	T	C	11: 115,775,973 (GRCm39)	S590P	probably damaging	Het
Nbas	T	C	12: 13,483,010 (GRCm39)	V1429A	probably damaging	Het
Nbeal1	T	A	1: 60,292,640 (GRCm39)	Y1097*	probably null	Het
Ncf4	T	C	15: 78,146,466 (GRCm39)	S299P	probably damaging	Het
Nfkbiz	T	C	16: 55,642,214 (GRCm39)	D68G	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nrp1	G	T	8: 129,187,187 (GRCm39)	W411L	probably damaging	Het
Or10d1b	T	C	9: 39,613,498 (GRCm39)	D189G	possibly damaging	Het
Or5t18	T	G	2: 86,637,209 (GRCm39)	I45L	noncoding transcript	Het
Or8g2b	T	C	9: 39,750,757 (GRCm39)	I9T	probably benign	Het
Or9g4b	T	C	2: 85,616,305 (GRCm39)	V150A	probably benign	Het
Pcsk5	A	G	19: 17,563,415 (GRCm39)	V574A	possibly damaging	Het
Prex1	C	A	2: 166,435,780 (GRCm39)	R589L	possibly damaging	Het
Prl7d1	A	G	13: 27,893,230 (GRCm39)	V227A		Het
Prpf40b	T	A	15: 99,201,949 (GRCm39)	F16I	unknown	Het
Rasa2	G	A	9: 96,484,791 (GRCm39)	P141L	probably damaging	Het
Rtl1	A	G	12: 109,558,650 (GRCm39)	V1063A	probably benign	Het
Sema4d	A	T	13: 51,859,192 (GRCm39)	C512*	probably null	Het
Slc19a2	A	G	1: 164,084,794 (GRCm39)	N228S	probably benign	Het
Tcf4	A	T	18: 69,633,994 (GRCm39)		probably benign	Het
Tnks2	T	C	19: 36,832,353 (GRCm39)	V264A	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp53	T	C	3: 122,741,012 (GRCm39)	E746G	probably benign	Het
Utp18	T	C	11: 93,766,903 (GRCm39)	D268G	probably damaging	Het
Vmn1r172	T	A	7: 23,359,752 (GRCm39)	Y212*	probably null	Het
Vmn2r100	T	A	17: 19,725,102 (GRCm39)	C10*	probably null	Het
Vmn2r113	G	T	17: 23,164,501 (GRCm39)	V135F	probably benign	Het
Vps54	T	C	11: 21,242,045 (GRCm39)	F387L	probably benign	Het
Xab2	A	C	8: 3,663,389 (GRCm39)	D450E	probably benign	Het
Zfp408	G	T	2: 91,475,361 (GRCm39)	R598S	probably benign	Het
Zfp788	T	A	7: 41,298,038 (GRCm39)	C225S	probably benign	Het
Zfp944	T	A	17: 22,558,861 (GRCm39)	K129*	probably null	Het

Other mutations in Or4c105

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03221:Or4c105	APN	2	88,647,781 (GRCm39)	missense	possibly damaging	0.54
R0105:Or4c105	UTSW	2	88,648,253 (GRCm39)	missense	probably damaging	1.00
R0699:Or4c105	UTSW	2	88,647,568 (GRCm39)	missense	probably damaging	1.00
R0709:Or4c105	UTSW	2	88,648,226 (GRCm39)	missense	probably benign	0.42
R1177:Or4c105	UTSW	2	88,647,704 (GRCm39)	missense	probably benign	0.06
R1436:Or4c105	UTSW	2	88,648,336 (GRCm39)	missense	possibly damaging	0.48
R1827:Or4c105	UTSW	2	88,648,402 (GRCm39)	missense	probably benign	0.04
R1828:Or4c105	UTSW	2	88,648,402 (GRCm39)	missense	probably benign	0.04
R1872:Or4c105	UTSW	2	88,648,280 (GRCm39)	missense	probably benign	0.02
R1878:Or4c105	UTSW	2	88,647,805 (GRCm39)	missense	probably benign	0.00
R4903:Or4c105	UTSW	2	88,648,342 (GRCm39)	missense	probably benign	0.14
R5035:Or4c105	UTSW	2	88,648,443 (GRCm39)	missense	probably benign	0.01
R6279:Or4c105	UTSW	2	88,647,719 (GRCm39)	missense	probably damaging	1.00
R7402:Or4c105	UTSW	2	88,647,687 (GRCm39)	missense	probably damaging	1.00
R7809:Or4c105	UTSW	2	88,647,902 (GRCm39)	missense	probably damaging	0.96
R8172:Or4c105	UTSW	2	88,647,986 (GRCm39)	missense	probably damaging	1.00
R8673:Or4c105	UTSW	2	88,647,590 (GRCm39)	missense	probably benign
R8730:Or4c105	UTSW	2	88,648,043 (GRCm39)	missense	possibly damaging	0.64
R9459:Or4c105	UTSW	2	88,647,967 (GRCm39)	missense	probably benign	0.12
R9772:Or4c105	UTSW	2	88,647,958 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTCACACAGAATCTGCAC -3'
(R):5'- GGGCCACAGAAAGGTAATCC -3'

Sequencing Primer
(F):5'- CTCTGTGGTAGGAAATTTGCTC -3'
(R):5'- TTGTATACCTCCATGAAGAAAGCCTC -3'

Posted On

2020-07-13