Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Or4d10c'

671657

Institutional Source

Beutler Lab

Gene Symbol

Or4d10c

Ensembl Gene

ENSMUSG00000044994

Gene Name

olfactory receptor family 4 subfamily D member 10C

Synonyms

Olfr1426, MOR239-1, GA_x6K02T2RE5P-2447610-2446675

MMRRC Submission

068640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12064974-12069211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12065469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 229 (E229G)

Ref Sequence

ENSEMBL: ENSMUSP00000108575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112952] [ENSMUST00000208703] [ENSMUST00000217952] [ENSMUST00000219005] [ENSMUST00000219155] [ENSMUST00000219996] [ENSMUST00000220005]

AlphaFold

Q8VG74

Predicted Effect

probably benign
Transcript: ENSMUST00000112952
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108575
Gene: ENSMUSG00000044994
AA Change: E229G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	2.1e-49	PFAM
Pfam:7tm_1	39	300	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208703
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000217952
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000219005
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000219155
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000219996
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000220005
AA Change: E229G

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

Coding Region Coverage

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

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,998,290 (GRCm39)	S431T	probably benign	Het
Acot7	T	G	4: 152,302,272 (GRCm39)	V128G	probably damaging	Het
Actn3	T	C	19: 4,914,691 (GRCm39)	D508G	probably benign	Het
Adam18	T	C	8: 25,137,878 (GRCm39)	I321V	probably benign	Het
Ak1	T	C	2: 32,523,490 (GRCm39)	V186A	probably benign	Het
Aldh3a2	A	G	11: 61,139,756 (GRCm39)	F459L	probably benign	Het
Atp11a	T	C	8: 12,875,721 (GRCm39)	L256P	probably benign	Het
Bcan	T	C	3: 87,903,999 (GRCm39)	E162G	probably benign	Het
Birc6	A	G	17: 74,959,033 (GRCm39)	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,689,084 (GRCm39)		probably benign	Het
Btla	A	G	16: 45,059,430 (GRCm39)	T45A	probably benign	Het
Cad	T	G	5: 31,226,908 (GRCm39)	S1222A	probably damaging	Het
Cbarp	A	G	10: 79,972,976 (GRCm39)	V39A	possibly damaging	Het
Cct2	A	C	10: 116,894,090 (GRCm39)	D221E	probably benign	Het
Cmya5	T	C	13: 93,177,991 (GRCm39)	D3621G	probably damaging	Het
Col20a1	G	T	2: 180,643,131 (GRCm39)	R867L	possibly damaging	Het
Cops3	A	G	11: 59,718,802 (GRCm39)	V164A	probably benign	Het
Crygf	A	G	1: 65,967,148 (GRCm39)	R91G	probably damaging	Het
Csmd2	T	A	4: 128,440,477 (GRCm39)	S3181T		Het
Cyb5r1	G	T	1: 134,333,696 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,070,383 (GRCm39)	I429F	probably benign	Het
Dock1	A	G	7: 134,475,816 (GRCm39)	T864A	probably benign	Het
Eea1	A	T	10: 95,859,853 (GRCm39)	D713V	probably benign	Het
Fam78b	G	A	1: 166,829,160 (GRCm39)	C9Y	probably damaging	Het
Gga2	A	C	7: 121,597,002 (GRCm39)	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,255,186 (GRCm39)	V2E	unknown	Het
Hectd4	A	T	5: 121,461,994 (GRCm39)	M954L	probably benign	Het
Hmcn1	A	G	1: 150,610,248 (GRCm39)	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Izumo3	T	C	4: 92,033,310 (GRCm39)		probably null	Het
Kremen1	T	C	11: 5,144,981 (GRCm39)	D465G	probably benign	Het
Ksr1	T	C	11: 79,036,882 (GRCm39)	E75G	probably benign	Het
Mmp17	G	T	5: 129,675,773 (GRCm39)	E311*	probably null	Het
Mmrn1	T	A	6: 60,965,271 (GRCm39)	F1101I	probably damaging	Het
Muc13	G	A	16: 33,633,287 (GRCm39)		probably benign	Het
Myl4	T	A	11: 104,475,403 (GRCm39)	M147K	probably damaging	Het
Myo1a	T	A	10: 127,546,856 (GRCm39)	N334K	probably benign	Het
Myo3b	T	C	2: 70,083,338 (GRCm39)	S664P	probably benign	Het
Nptxr	T	C	15: 79,678,655 (GRCm39)	N211D	probably damaging	Het
Ntf5	A	G	7: 45,065,485 (GRCm39)	T206A	probably benign	Het
Obscn	T	A	11: 58,945,229 (GRCm39)	E4596D	probably benign	Het
Or4f14d	T	C	2: 111,960,427 (GRCm39)	H243R	probably damaging	Het
Or5ak20	T	A	2: 85,184,078 (GRCm39)	Q64L	probably damaging	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5b3	A	T	19: 13,388,037 (GRCm39)	I35F	probably damaging	Het
Or7e169	A	T	9: 19,757,462 (GRCm39)	I151N	possibly damaging	Het
Paip2	A	G	18: 35,749,273 (GRCm39)	N114D	possibly damaging	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,637,870 (GRCm39)	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,818,492 (GRCm39)		probably benign	Het
Ppp1r35	T	A	5: 137,777,731 (GRCm39)	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,320,405 (GRCm39)	V296E	probably benign	Het
Prh1	C	T	6: 132,548,948 (GRCm39)	P152S	unknown	Het
Pygl	T	C	12: 70,242,390 (GRCm39)	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,369,269 (GRCm39)	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,783,842 (GRCm39)	R121L	probably damaging	Het
Scarf2	A	T	16: 17,620,695 (GRCm39)	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,851,821 (GRCm39)	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,163,143 (GRCm39)	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,305,558 (GRCm39)	H278Y	probably damaging	Het
Stambp	C	T	6: 83,524,212 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,311,535 (GRCm39)	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,870,104 (GRCm39)	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,772,816 (GRCm39)	T305A	probably benign	Het
Twf1	T	C	15: 94,479,136 (GRCm39)	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,484,389 (GRCm39)	K212E	probably damaging	Het
Ush2a	A	T	1: 188,676,998 (GRCm39)	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,247,800 (GRCm39)	V1001A	probably benign	Het
Zfp335	C	T	2: 164,751,290 (GRCm39)	R92Q	probably benign	Het

Other mutations in Or4d10c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Or4d10c	APN	19	12,065,357 (GRCm39)	missense	probably benign	0.28
IGL01549:Or4d10c	APN	19	12,065,329 (GRCm39)	missense	probably benign	0.20
IGL02479:Or4d10c	APN	19	12,065,269 (GRCm39)	missense	probably benign	0.01
IGL03065:Or4d10c	APN	19	12,065,975 (GRCm39)	missense	possibly damaging	0.91
IGL03092:Or4d10c	APN	19	12,065,230 (GRCm39)	nonsense	probably null
IGL03046:Or4d10c	UTSW	19	12,065,391 (GRCm39)	missense	probably damaging	0.98
R0734:Or4d10c	UTSW	19	12,065,483 (GRCm39)	missense	probably benign	0.12
R1190:Or4d10c	UTSW	19	12,066,051 (GRCm39)	missense	possibly damaging	0.82
R1990:Or4d10c	UTSW	19	12,065,620 (GRCm39)	missense	probably damaging	0.98
R2331:Or4d10c	UTSW	19	12,065,522 (GRCm39)	missense	probably benign	0.00
R3500:Or4d10c	UTSW	19	12,065,421 (GRCm39)	missense	possibly damaging	0.58
R3768:Or4d10c	UTSW	19	12,065,304 (GRCm39)	missense	probably damaging	1.00
R3825:Or4d10c	UTSW	19	12,065,391 (GRCm39)	missense	probably damaging	0.98
R4589:Or4d10c	UTSW	19	12,065,305 (GRCm39)	missense	possibly damaging	0.61
R5175:Or4d10c	UTSW	19	12,065,926 (GRCm39)	missense	probably damaging	1.00
R6436:Or4d10c	UTSW	19	12,065,299 (GRCm39)	missense	probably benign	0.24
R6729:Or4d10c	UTSW	19	12,065,860 (GRCm39)	missense	probably benign	0.04
R6965:Or4d10c	UTSW	19	12,066,120 (GRCm39)	missense	possibly damaging	0.95
R7099:Or4d10c	UTSW	19	12,065,530 (GRCm39)	missense	possibly damaging	0.78
R7393:Or4d10c	UTSW	19	12,065,992 (GRCm39)	missense	probably benign	0.13
R7582:Or4d10c	UTSW	19	12,065,370 (GRCm39)	missense	probably benign	0.01
R8000:Or4d10c	UTSW	19	12,065,358 (GRCm39)	missense	probably damaging	0.98
R8833:Or4d10c	UTSW	19	12,065,643 (GRCm39)	missense	possibly damaging	0.92
R8846:Or4d10c	UTSW	19	12,065,433 (GRCm39)	missense	probably damaging	0.96
R8951:Or4d10c	UTSW	19	12,066,056 (GRCm39)	nonsense	probably null
R9469:Or4d10c	UTSW	19	12,065,434 (GRCm39)	missense	probably benign	0.20
RF011:Or4d10c	UTSW	19	12,065,611 (GRCm39)	missense	probably benign	0.09
Z1177:Or4d10c	UTSW	19	12,065,308 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGTCTCCTCATGGCTGACTTC -3'
(R):5'- TCTGTGGACCCAATGTTCTTG -3'

Sequencing Primer
(F):5'- CCTGGTTCCTCAGTGTATAGATCAAG -3'
(R):5'- GTGGACCCAATGTTCTTGATACTTTC -3'

Posted On

2021-04-30