Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Or4c3d'

567430

Institutional Source

Beutler Lab

Gene Symbol

Or4c3d

Ensembl Gene

ENSMUSG00000075068

Gene Name

olfactory receptor family 4 subfamily C member 3D

Synonyms

Olfr140, MOR235-1, GA_x6K02T2Q125-51484508-51483600, A16

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89881758-89882666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89881801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 289 (N289I)

Ref Sequence

ENSEMBL: ENSMUSP00000107131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099757] [ENSMUST00000111506] [ENSMUST00000216475]

AlphaFold

Q60878

Predicted Effect

probably damaging
Transcript: ENSMUST00000099757
AA Change: N289I

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

SMART Domains

Protein: ENSMUSP00000097346
Gene: ENSMUSG00000075068
AA Change: N289I

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	285	1.3e-30	PFAM
Pfam:7tm_4	137	278	7e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111506
AA Change: N289I

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

SMART Domains

Protein: ENSMUSP00000107131
Gene: ENSMUSG00000075068
AA Change: N289I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	2.9e-48	PFAM
Pfam:7tm_1	39	285	9.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216475
AA Change: N289I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Esf1	A	T	2: 139,967,011 (GRCm39)		probably null	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	probably benign	Het

Other mutations in Or4c3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Or4c3d	APN	2	89,882,038 (GRCm39)	missense	probably damaging	1.00
IGL02631:Or4c3d	APN	2	89,881,786 (GRCm39)	missense	probably damaging	0.97
IGL03354:Or4c3d	APN	2	89,881,911 (GRCm39)	missense	probably damaging	1.00
3-1:Or4c3d	UTSW	2	89,882,496 (GRCm39)	missense	possibly damaging	0.48
R0673:Or4c3d	UTSW	2	89,882,596 (GRCm39)	missense	probably benign	0.04
R1355:Or4c3d	UTSW	2	89,881,957 (GRCm39)	missense	probably benign	0.29
R1452:Or4c3d	UTSW	2	89,882,015 (GRCm39)	missense	possibly damaging	0.68
R1719:Or4c3d	UTSW	2	89,882,128 (GRCm39)	missense	probably damaging	1.00
R2230:Or4c3d	UTSW	2	89,882,569 (GRCm39)	missense	probably benign
R2231:Or4c3d	UTSW	2	89,882,569 (GRCm39)	missense	probably benign
R2232:Or4c3d	UTSW	2	89,882,569 (GRCm39)	missense	probably benign
R4540:Or4c3d	UTSW	2	89,882,494 (GRCm39)	missense	probably damaging	1.00
R4710:Or4c3d	UTSW	2	89,882,494 (GRCm39)	missense	probably damaging	1.00
R5304:Or4c3d	UTSW	2	89,882,257 (GRCm39)	missense	probably benign	0.29
R5599:Or4c3d	UTSW	2	89,882,563 (GRCm39)	missense	probably benign	0.00
R7361:Or4c3d	UTSW	2	89,882,089 (GRCm39)	missense	probably benign	0.01
R8314:Or4c3d	UTSW	2	89,882,441 (GRCm39)	missense	probably benign	0.00
R8922:Or4c3d	UTSW	2	89,882,695 (GRCm39)	start gained	probably benign
Z1176:Or4c3d	UTSW	2	89,882,609 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAGACAAAGGTTGCTCTTC -3'
(R):5'- AGCTCTGTCTACCTGTGGAG -3'

Sequencing Primer
(F):5'- GGAAGACAAAGGTTGCTCTTCTATAC -3'
(R):5'- GGAGCCCACTTCACTGTTG -3'

Posted On

2019-06-26