Mutagenetix > Incidental Mutation

Incidental Mutation 'R2512:Or8c15'

253464

Institutional Source

Beutler Lab

Gene Symbol

Or8c15

Ensembl Gene

ENSMUSG00000093901

Gene Name

olfactory receptor family 8 subfamily C member 15

Synonyms

GA_x6K02T2PVTD-31889215-31890153, Olfr893, MOR170-11

MMRRC Submission

040418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2512 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38120348-38121289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38120670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 54 (C54F)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093867] [ENSMUST00000211975]

AlphaFold

K7N678

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093867
AA Change: C107F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091390
Gene: ENSMUSG00000093901
AA Change: C107F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	309	1.2e-45	PFAM
Pfam:7tm_1	43	292	8e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211975
AA Change: C105F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212815
AA Change: C54F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,219,945 (GRCm39)	T831A	possibly damaging	Het
Actg2	T	A	6: 83,503,829 (GRCm39)	I72F	probably damaging	Het
Add1	A	G	5: 34,774,030 (GRCm39)	T80A	probably benign	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Aplp2	C	T	9: 31,078,973 (GRCm39)	R325H	probably damaging	Het
Aptx	G	A	4: 40,694,917 (GRCm39)	P140S	probably benign	Het
Carm1	A	G	9: 21,486,708 (GRCm39)		probably null	Het
Carmil2	A	T	8: 106,424,025 (GRCm39)	I1293F	probably benign	Het
Cdh8	T	C	8: 100,127,495 (GRCm39)	T39A	probably benign	Het
Cimip3	T	C	17: 47,724,651 (GRCm39)	T60A	probably benign	Het
Col15a1	T	A	4: 47,245,868 (GRCm39)	N206K	possibly damaging	Het
Copg2	C	T	6: 30,873,591 (GRCm39)		probably null	Het
Ctr9	T	G	7: 110,646,078 (GRCm39)	I690S	probably damaging	Het
Dcaf8	T	G	1: 172,016,602 (GRCm39)	I463S	possibly damaging	Het
Dcp1b	G	T	6: 119,183,473 (GRCm39)	A187S	possibly damaging	Het
Ddo	T	A	10: 40,508,935 (GRCm39)	D58E	possibly damaging	Het
Dkkl1	G	T	7: 44,857,157 (GRCm39)	R137S	probably damaging	Het
Dxo	A	G	17: 35,056,718 (GRCm39)	N115S	probably benign	Het
Ep400	A	T	5: 110,856,781 (GRCm39)		probably benign	Het
F11	A	G	8: 45,714,098 (GRCm39)	V7A	probably benign	Het
Fermt1	G	T	2: 132,781,438 (GRCm39)		probably null	Het
Fign	A	T	2: 63,810,143 (GRCm39)	F376I	probably benign	Het
Flg2	G	T	3: 93,109,082 (GRCm39)	G370V	probably damaging	Het
Fndc3a	A	T	14: 72,793,715 (GRCm39)	D953E	probably benign	Het
Fsip2	A	T	2: 82,808,511 (GRCm39)	H1610L	probably benign	Het
Gfra3	T	C	18: 34,837,564 (GRCm39)	N145D	probably benign	Het
Inpp4b	G	T	8: 82,737,179 (GRCm39)	W525C	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lgi2	A	G	5: 52,695,307 (GRCm39)	*543R	probably null	Het
Lyn	A	G	4: 3,745,542 (GRCm39)	T114A	probably benign	Het
Lynx1	A	G	15: 74,623,169 (GRCm39)	Y88H	probably damaging	Het
Map4	C	A	9: 109,863,770 (GRCm39)	P332T	possibly damaging	Het
Mapk8ip3	A	T	17: 25,133,677 (GRCm39)	C250*	probably null	Het
Metap1d	A	G	2: 71,352,954 (GRCm39)	H261R	probably damaging	Het
Mfrp	T	C	9: 44,013,835 (GRCm39)	V115A	probably benign	Het
Mtbp	A	G	15: 55,440,932 (GRCm39)	Y373C	probably damaging	Het
Mtor	C	A	4: 148,614,948 (GRCm39)	R1628S	possibly damaging	Het
Muc5b	A	G	7: 141,412,813 (GRCm39)	N1920D	unknown	Het
Myo1d	T	A	11: 80,670,543 (GRCm39)	M26L	probably benign	Het
Neb	A	C	2: 52,100,843 (GRCm39)	D643E	probably damaging	Het
Nme1	A	G	11: 93,851,513 (GRCm39)	F108L	possibly damaging	Het
Or2r11	A	G	6: 42,437,207 (GRCm39)	S249P	probably damaging	Het
Pan2	T	A	10: 128,140,326 (GRCm39)	D82E	probably damaging	Het
Pclo	A	G	5: 14,762,612 (GRCm39)	D3695G	unknown	Het
Pcnx4	A	T	12: 72,603,573 (GRCm39)		probably null	Het
Plg	A	G	17: 12,622,116 (GRCm39)	T479A	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Pramel32	T	G	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Ptgis	T	C	2: 167,049,196 (GRCm39)	D372G	probably damaging	Het
Ranbp3l	A	G	15: 8,997,949 (GRCm39)	T14A	probably benign	Het
Rcc1l	A	T	5: 134,195,508 (GRCm39)	V230D	probably damaging	Het
Reln	T	C	5: 22,184,688 (GRCm39)	D1609G	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,802,967 (GRCm39)	L696F	possibly damaging	Het
Sacs	T	A	14: 61,440,529 (GRCm39)	D858E	probably benign	Het
Sec16a	C	T	2: 26,329,037 (GRCm39)	V993I	probably benign	Het
Skint5	T	A	4: 113,487,616 (GRCm39)	I901F	unknown	Het
Slc17a3	A	T	13: 24,030,230 (GRCm39)	I114F	probably benign	Het
Slc17a7	T	A	7: 44,818,288 (GRCm39)	L71Q	probably damaging	Het
Slc43a2	T	C	11: 75,461,403 (GRCm39)	S452P	probably damaging	Het
Smarca4	A	G	9: 21,546,994 (GRCm39)	N173S	possibly damaging	Het
Tbc1d21	T	C	9: 58,270,195 (GRCm39)	Y161C	probably damaging	Het
Tpsab1	C	A	17: 25,564,081 (GRCm39)	C94F	probably damaging	Het
Ubr5	G	A	15: 38,002,563 (GRCm39)	P1496L	probably damaging	Het
Unc80	G	T	1: 66,710,767 (GRCm39)	A2679S	possibly damaging	Het
Vdac1	T	A	11: 52,274,904 (GRCm39)	V184E	probably damaging	Het
Vmn2r24	T	A	6: 123,763,985 (GRCm39)	S287R	probably benign	Het
Vmn2r91	T	C	17: 18,356,048 (GRCm39)	F572L	probably benign	Het
Vps13b	G	A	15: 35,884,701 (GRCm39)	E3125K	probably benign	Het
Ythdf3	A	G	3: 16,259,059 (GRCm39)	N406S	possibly damaging	Het
Zfp708	T	C	13: 67,219,251 (GRCm39)	K158E	probably damaging	Het

Other mutations in Or8c15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Or8c15	APN	9	38,120,534 (GRCm39)	missense	probably damaging	1.00
IGL00914:Or8c15	APN	9	38,121,095 (GRCm39)	splice site	probably null
IGL01563:Or8c15	APN	9	38,120,997 (GRCm39)	missense	probably damaging	1.00
IGL01696:Or8c15	APN	9	38,120,345 (GRCm39)	unclassified	probably benign
IGL02064:Or8c15	APN	9	38,120,874 (GRCm39)	missense	probably damaging	1.00
IGL02605:Or8c15	APN	9	38,120,532 (GRCm39)	missense	probably damaging	0.99
R0415:Or8c15	UTSW	9	38,121,269 (GRCm39)	missense	probably benign
R0463:Or8c15	UTSW	9	38,120,360 (GRCm39)	missense	probably benign	0.00
R0843:Or8c15	UTSW	9	38,120,579 (GRCm39)	missense	possibly damaging	0.81
R1441:Or8c15	UTSW	9	38,120,777 (GRCm39)	missense	probably damaging	1.00
R1939:Or8c15	UTSW	9	38,120,725 (GRCm39)	nonsense	probably null
R4890:Or8c15	UTSW	9	38,120,586 (GRCm39)	missense	probably benign	0.00
R5439:Or8c15	UTSW	9	38,121,050 (GRCm39)	missense	probably benign	0.00
R6918:Or8c15	UTSW	9	38,120,948 (GRCm39)	missense	possibly damaging	0.95
R7621:Or8c15	UTSW	9	38,120,447 (GRCm39)	missense	probably benign	0.09
R7715:Or8c15	UTSW	9	38,120,775 (GRCm39)	missense	probably benign	0.30
R7940:Or8c15	UTSW	9	38,120,496 (GRCm39)	missense	probably benign	0.00
R8710:Or8c15	UTSW	9	38,121,066 (GRCm39)	missense	possibly damaging	0.60
R8712:Or8c15	UTSW	9	38,121,099 (GRCm39)	missense	probably benign	0.39
R8882:Or8c15	UTSW	9	38,120,461 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCGTGATGGGAAATTTGAGC -3'
(R):5'- TTCGAATCACAAAACTTGAGCC -3'

Sequencing Primer
(F):5'- CCGTGATGGGAAATTTGAGCTTAATG -3'
(R):5'- TGAGCCTAATCATGCAGCCAGTATG -3'

Posted On

2014-12-04