Mutagenetix > Incidental Mutation

Incidental Mutation 'R8730:Or4c105'

662685

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

068578-MU

Accession Numbers

Essential gene?

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

Stock #

R8730 (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 88648043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 176 (M176K)

Ref Sequence

ENSEMBL: ENSMUSP00000150743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072057] [ENSMUST00000214703] [ENSMUST00000217059]

AlphaFold

Q8VF98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072057
AA Change: M176K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: M176K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214703
AA Change: M176K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217059
AA Change: M176K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	C	5: 8,208,830 (GRCm39)	S200A	probably benign	Het
Adgrg3	G	A	8: 95,766,556 (GRCm39)	R409H	probably benign	Het
Aldh1l2	C	T	10: 83,342,506 (GRCm39)	V548M	possibly damaging	Het
Ampd1	T	A	3: 102,992,676 (GRCm39)	C143*	probably null	Het
Angpt4	A	G	2: 151,771,467 (GRCm39)	Q261R	probably damaging	Het
Ccar1	T	C	10: 62,601,191 (GRCm39)	K491E	probably damaging	Het
Cd177	A	T	7: 24,457,501 (GRCm39)	M180K	possibly damaging	Het
Dcst2	C	T	3: 89,280,553 (GRCm39)	R620C	probably damaging	Het
Dcun1d4	T	A	5: 73,688,832 (GRCm39)		probably benign	Het
Dhrs1	T	A	14: 55,980,978 (GRCm39)	T103S	probably benign	Het
Dnah2	A	G	11: 69,384,087 (GRCm39)	L1043P	possibly damaging	Het
Eci3	A	T	13: 35,144,405 (GRCm39)	N19K	probably benign	Het
Ets1	A	T	9: 32,649,614 (GRCm39)	D317V	probably damaging	Het
Fem1c	T	C	18: 46,638,668 (GRCm39)	I445V	possibly damaging	Het
Gabpb1	T	C	2: 126,492,484 (GRCm39)	I176M	possibly damaging	Het
Gm6563	A	T	19: 23,653,429 (GRCm39)	K73I	probably damaging	Het
Grap2	A	G	15: 80,532,140 (GRCm39)	R252G	possibly damaging	Het
Gsx1	T	C	5: 147,126,651 (GRCm39)	L158P	probably damaging	Het
Hand2	T	A	8: 57,775,468 (GRCm39)	V176E	probably benign	Het
Hey2	G	T	10: 30,718,622 (GRCm39)	T8K	possibly damaging	Het
Igsf3	T	C	3: 101,334,532 (GRCm39)	I203T	probably benign	Het
Itgax	G	A	7: 127,739,066 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,725,139 (GRCm39)	I212V	possibly damaging	Het
Kcnu1	G	T	8: 26,403,708 (GRCm39)	V740L	probably damaging	Het
Kcnv1	A	G	15: 44,972,797 (GRCm39)	I362T	probably damaging	Het
Klhdc9	C	T	1: 171,186,488 (GRCm39)	G316D	probably damaging	Het
Mcmbp	T	C	7: 128,317,738 (GRCm39)	E169G	probably damaging	Het
Muc20	G	T	16: 32,599,490 (GRCm39)	H645N	probably benign	Het
Nrm	A	G	17: 36,175,423 (GRCm39)	T52A	probably benign	Het
Or13a23-ps1	T	C	7: 140,119,197 (GRCm39)	S256P	unknown	Het
Or14c41	A	G	7: 86,235,259 (GRCm39)	K259E	probably benign	Het
Or2y3	A	T	17: 38,392,925 (GRCm39)	*315K	probably null	Het
Or4g7	T	A	2: 111,309,934 (GRCm39)	D268E	probably damaging	Het
Or51f23	T	C	7: 102,453,348 (GRCm39)	V221A	probably benign	Het
Pde11a	A	T	2: 75,889,334 (GRCm39)	N713K	probably damaging	Het
Pfpl	T	C	19: 12,405,944 (GRCm39)	L65S	probably damaging	Het
Prox1	A	G	1: 189,894,238 (GRCm39)	V69A	possibly damaging	Het
Prss39	A	G	1: 34,539,198 (GRCm39)	H146R	probably damaging	Het
Pxt1	A	T	17: 29,153,702 (GRCm39)	F44I	possibly damaging	Het
Rbp3	A	G	14: 33,677,795 (GRCm39)	D581G	probably benign	Het
Rims2	A	G	15: 39,381,239 (GRCm39)	T1057A	probably benign	Het
Robo1	G	A	16: 72,786,495 (GRCm39)	G836R	probably benign	Het
Slc34a3	A	T	2: 25,122,057 (GRCm39)	S155T	possibly damaging	Het
Slc35d1	T	C	4: 103,030,951 (GRCm39)	Y308C		Het
Slfn9	T	C	11: 82,878,194 (GRCm39)	I312V	possibly damaging	Het
St3gal5	T	A	6: 72,130,461 (GRCm39)	L351Q	probably damaging	Het
Tanc1	A	G	2: 59,601,590 (GRCm39)	D157G	probably benign	Het
Tmprss11g	C	T	5: 86,638,837 (GRCm39)		probably null	Het
Tnpo1	A	T	13: 98,989,916 (GRCm39)	I745N	probably benign	Het
Uggt1	C	A	1: 36,236,624 (GRCm39)		probably null	Het
Ugt8a	G	A	3: 125,732,105 (GRCm39)		probably benign	Het
Urod	T	C	4: 116,850,729 (GRCm39)		probably benign	Het
Vmn1r211	A	T	13: 23,035,838 (GRCm39)	Y276*	probably null	Het
Vwa3a	T	A	7: 120,381,910 (GRCm39)	S582T	probably damaging	Het
Zfp869	A	T	8: 70,159,177 (GRCm39)	C465*	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
R8193:Or4c105	UTSW	2	88,647,803 (GRCm39)	missense	probably damaging	1.00
R8673:Or4c105	UTSW	2	88,647,590 (GRCm39)	missense	probably benign
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'- TTGGAGGAACTGAAGTCATCTTG -3'
(R):5'- ACAGGTAGAGAGGGCTTTGC -3'

Sequencing Primer
(F):5'- GGAGGAACTGAAGTCATCTTGCTTAC -3'
(R):5'- GCTTTGCGCCTGCCTTCTG -3'

Posted On

2021-03-08