Mutagenetix > Incidental Mutation

Incidental Mutation 'R0503:Or10d4c'

47262

Institutional Source

Beutler Lab

Gene Symbol

Or10d4c

Ensembl Gene

ENSMUSG00000059106

Gene Name

olfactory receptor family 10 subfamily D member 4C

Synonyms

GA_x6K02T2PVTD-33343617-33344561, MOR224-5, Olfr961

MMRRC Submission

038698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39558024-39558968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39558772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 250 (Y250C)

Ref Sequence

ENSEMBL: ENSMUSP00000151840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076548] [ENSMUST00000219295]

AlphaFold

Q9EQ84

Predicted Effect

probably damaging
Transcript: ENSMUST00000076548
AA Change: Y250C

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

SMART Domains

Protein: ENSMUSP00000075863
Gene: ENSMUSG00000059106
AA Change: Y250C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.1e-50	PFAM
Pfam:7tm_1	39	286	4.5e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000219295
AA Change: Y250C

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,322 (GRCm39)	H755R	possibly damaging	Het
Atp2c2	A	G	8: 120,461,316 (GRCm39)	E279G	probably null	Het
Ccdc65	G	T	15: 98,607,041 (GRCm39)	D83Y	probably damaging	Het
Cd200r2	T	A	16: 44,698,325 (GRCm39)	M1K	probably null	Het
Clca4c-ps	A	T	3: 144,585,583 (GRCm39)		noncoding transcript	Het
Col6a6	A	T	9: 105,644,550 (GRCm39)	M1246K	probably benign	Het
Comp	A	T	8: 70,828,384 (GRCm39)	N130I	possibly damaging	Het
Crot	A	G	5: 9,026,075 (GRCm39)	V304A	possibly damaging	Het
Dapk1	T	A	13: 60,878,662 (GRCm39)		probably null	Het
Dspp	A	T	5: 104,325,122 (GRCm39)	D495V	unknown	Het
Erich2	A	T	2: 70,340,043 (GRCm39)	R169S	probably damaging	Het
Erich2	C	A	2: 70,371,119 (GRCm39)	S426R	unknown	Het
Gab1	C	T	8: 81,526,771 (GRCm39)	R109H	probably damaging	Het
Ggcx	GTCTAT	GTCTATCTAT	6: 72,406,140 (GRCm39)		probably null	Het
Gria1	T	G	11: 57,080,542 (GRCm39)	V175G	probably damaging	Het
Hmcn1	C	T	1: 150,735,003 (GRCm39)	V170M	probably damaging	Het
Irx4	T	A	13: 73,414,703 (GRCm39)		probably null	Het
Katnb1	A	G	8: 95,821,802 (GRCm39)	T212A	probably damaging	Het
Kirrel1	A	G	3: 87,005,109 (GRCm39)	S80P	probably benign	Het
Lrrc75b	T	C	10: 75,389,488 (GRCm39)	T81A	possibly damaging	Het
Macf1	A	G	4: 123,363,608 (GRCm39)	S1775P	probably damaging	Het
Mmp10	A	T	9: 7,507,340 (GRCm39)	I387F	probably damaging	Het
Mphosph10	A	T	7: 64,039,641 (GRCm39)	C110S	probably benign	Het
Mpig6b	A	G	17: 35,283,424 (GRCm39)		probably benign	Het
Mrps27	G	T	13: 99,546,303 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mybpc2	A	G	7: 44,161,994 (GRCm39)		probably benign	Het
Nbea	C	T	3: 55,550,257 (GRCm39)	G2724S	possibly damaging	Het
Nck2	A	G	1: 43,572,728 (GRCm39)	M1V	probably null	Het
Nefl	T	A	14: 68,321,432 (GRCm39)	D7E	probably benign	Het
Nktr	T	A	9: 121,579,806 (GRCm39)		probably benign	Het
Nlrp12	C	T	7: 3,298,007 (GRCm39)	E55K	probably damaging	Het
Nsun7	T	A	5: 66,440,924 (GRCm39)		probably benign	Het
Or4c109	C	T	2: 88,818,322 (GRCm39)	V75I	probably benign	Het
Or4k5	T	A	14: 50,385,935 (GRCm39)	Y132F	probably damaging	Het
Or51a5	A	T	7: 102,771,643 (GRCm39)	M112K	possibly damaging	Het
Or6c2b	T	C	10: 128,947,671 (GRCm39)	T208A	probably damaging	Het
Or6f2	T	C	7: 139,756,354 (GRCm39)	V113A	possibly damaging	Het
Pcdh15	A	G	10: 74,046,217 (GRCm39)	T165A	probably damaging	Het
Pikfyve	A	T	1: 65,259,058 (GRCm39)	H410L	probably damaging	Het
Polr3c	A	T	3: 96,620,952 (GRCm39)		probably null	Het
Ptdss2	T	A	7: 140,731,710 (GRCm39)		probably benign	Het
Ptprg	A	G	14: 12,237,138 (GRCm38)	M1386V	possibly damaging	Het
Ptpru	T	C	4: 131,520,954 (GRCm39)	N784S	probably benign	Het
Rfx4	T	A	10: 84,730,196 (GRCm39)	I495K	possibly damaging	Het
Serpina12	C	A	12: 103,997,418 (GRCm39)	A368S	probably damaging	Het
Tmem39b	A	C	4: 129,580,779 (GRCm39)	Y238D	possibly damaging	Het
Tspan11	T	C	6: 127,916,075 (GRCm39)	W124R	probably benign	Het
Ttll10	T	C	4: 156,132,005 (GRCm39)		probably benign	Het
Tyro3	T	C	2: 119,633,711 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,045,127 (GRCm39)	M644V	probably benign	Het
Vmn1r196	G	A	13: 22,477,557 (GRCm39)	M65I	probably benign	Het
Vmn2r85	T	C	10: 130,258,609 (GRCm39)	Y482C	probably damaging	Het
Zfp940	A	G	7: 29,545,445 (GRCm39)		probably benign	Het
Zfyve9	A	T	4: 108,576,961 (GRCm39)	L40*	probably null	Het
Zkscan1	T	A	5: 138,091,588 (GRCm39)	I107N	probably damaging	Het

Other mutations in Or10d4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Or10d4c	APN	9	39,558,636 (GRCm39)	missense	probably benign	0.19
IGL01792:Or10d4c	APN	9	39,558,955 (GRCm39)	missense	probably benign	0.07
R0344:Or10d4c	UTSW	9	39,558,646 (GRCm39)	missense	probably damaging	1.00
R0525:Or10d4c	UTSW	9	39,558,767 (GRCm39)	missense	probably damaging	1.00
R0531:Or10d4c	UTSW	9	39,558,168 (GRCm39)	missense	probably benign
R1188:Or10d4c	UTSW	9	39,558,772 (GRCm39)	missense	probably damaging	1.00
R1453:Or10d4c	UTSW	9	39,558,459 (GRCm39)	missense	probably benign	0.01
R2970:Or10d4c	UTSW	9	39,558,195 (GRCm39)	missense	probably damaging	1.00
R3883:Or10d4c	UTSW	9	39,558,420 (GRCm39)	missense	probably benign	0.07
R4423:Or10d4c	UTSW	9	39,558,412 (GRCm39)	missense	probably damaging	1.00
R5129:Or10d4c	UTSW	9	39,558,790 (GRCm39)	missense	probably benign	0.03
R6148:Or10d4c	UTSW	9	39,558,555 (GRCm39)	missense	probably damaging	1.00
R6738:Or10d4c	UTSW	9	39,557,957 (GRCm39)	start gained	probably benign
R6778:Or10d4c	UTSW	9	39,558,043 (GRCm39)	missense	probably damaging	1.00
R7194:Or10d4c	UTSW	9	39,558,387 (GRCm39)	missense	probably benign	0.15
R7545:Or10d4c	UTSW	9	39,558,403 (GRCm39)	missense	probably damaging	0.97
R8547:Or10d4c	UTSW	9	39,558,798 (GRCm39)	nonsense	probably null
R8956:Or10d4c	UTSW	9	39,558,496 (GRCm39)	missense	probably damaging	1.00
R9081:Or10d4c	UTSW	9	39,558,196 (GRCm39)	missense	probably damaging	1.00
R9098:Or10d4c	UTSW	9	39,558,379 (GRCm39)	missense	probably damaging	1.00
R9734:Or10d4c	UTSW	9	39,558,202 (GRCm39)	missense	probably damaging	1.00
RF008:Or10d4c	UTSW	9	39,558,559 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGGCCTATGACCGCTTTGTTGC -3'
(R):5'- ATGCCTCAGGGCTGCTTTCACATC -3'

Sequencing Primer
(F):5'- ATTCCTCTCTAGCACAGAGGGTAG -3'
(R):5'- ACATCCTTGTTCCTCAGGCTG -3'

Posted On

2013-06-12