Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Or12d13'

651049

Institutional Source

Beutler Lab

Gene Symbol

Or12d13

Ensembl Gene

ENSMUSG00000049618

Gene Name

olfactory receptor family 12 subfamily D member 13

Synonyms

MOR250-3, Olfr103, MOR250-8_p, GA_x6K02T2PSCP-1798423-1797482

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37647180-37648121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37647392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 244 (F244L)

Ref Sequence

ENSEMBL: ENSMUSP00000134539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058826] [ENSMUST00000173472]

AlphaFold

Q920Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000058826
AA Change: F244L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: F244L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	3.5e-52	PFAM
Pfam:7tm_1	39	289	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173472
AA Change: F244L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: F244L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	289	2.8e-31	PFAM
Pfam:7tm_4	137	282	1.1e-38	PFAM

Coding Region Coverage

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 77,036,515 (GRCm39)	I342N	probably damaging	Het
Alb	A	T	5: 90,619,932 (GRCm39)	N453I	possibly damaging	Het
Aox4	C	A	1: 58,274,366 (GRCm39)	S384Y	probably damaging	Het
Ap1g1	C	T	8: 110,564,399 (GRCm39)	R315*	probably null	Het
Cachd1	T	C	4: 100,832,060 (GRCm39)	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,395,456 (GRCm39)	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,216,921 (GRCm39)	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,426,960 (GRCm39)	N582K	possibly damaging	Het
Cdh20	A	G	1: 109,921,835 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,963,342 (GRCm39)	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 104,915,307 (GRCm39)	V132A	probably damaging	Het
Cwc25	G	A	11: 97,644,044 (GRCm39)	Q230*	probably null	Het
Dsel	G	A	1: 111,787,449 (GRCm39)	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,326,227 (GRCm39)		probably benign	Het
Fam120a	T	C	13: 49,055,750 (GRCm39)	Y646C	probably damaging	Het
Hltf	T	C	3: 20,146,968 (GRCm39)	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,279,359 (GRCm39)	N1787S	probably benign	Het
Ift122	A	G	6: 115,897,313 (GRCm39)	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,013,806 (GRCm39)	T2I	unknown	Het
Ino80	T	G	2: 119,269,874 (GRCm39)	R590S	possibly damaging	Het
Intu	T	A	3: 40,652,069 (GRCm39)	I842N	probably damaging	Het
Itgae	A	T	11: 73,024,913 (GRCm39)	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna10	A	G	3: 107,101,663 (GRCm39)	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,780,837 (GRCm39)	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,564,676 (GRCm39)	I923V	probably benign	Het
Kptn	A	G	7: 15,859,697 (GRCm39)	D307G	probably damaging	Het
Myo3b	T	C	2: 70,083,458 (GRCm39)	Y704H	probably damaging	Het
Or4c100	T	A	2: 88,356,014 (GRCm39)	L29*	probably null	Het
Or4c58	A	T	2: 89,674,611 (GRCm39)	C235*	probably null	Het
Or4f59	T	C	2: 111,872,523 (GRCm39)	T285A	possibly damaging	Het
Pmel	G	A	10: 128,551,819 (GRCm39)	V218M	probably damaging	Het
Prkar2b	T	C	12: 32,013,024 (GRCm39)	H364R	possibly damaging	Het
Psd4	T	C	2: 24,294,867 (GRCm39)	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,078,838 (GRCm39)	S59P		Het
Rgr	A	G	14: 36,766,645 (GRCm39)	F134L	probably benign	Het
Rspry1	G	T	8: 95,349,753 (GRCm39)	R47L	probably damaging	Het
Scd3	G	T	19: 44,222,688 (GRCm39)	E113*	probably null	Het
Slc22a12	G	A	19: 6,586,938 (GRCm39)	A476V	possibly damaging	Het
Smg1	T	C	7: 117,792,878 (GRCm39)	E560G	unknown	Het
Snx3	A	G	10: 42,378,346 (GRCm39)	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Tbc1d12	A	G	19: 38,905,285 (GRCm39)	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,142,104 (GRCm39)	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,966,583 (GRCm39)	I395F	probably damaging	Het
Tes	C	A	6: 17,096,322 (GRCm39)	N103K	probably benign	Het
Tet2	T	C	3: 133,193,426 (GRCm39)	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,287,726 (GRCm39)	N491S	probably damaging	Het
Tomt	T	C	7: 101,549,554 (GRCm39)	I245V	probably damaging	Het
Trbc1	T	C	6: 41,515,236 (GRCm39)	L28P		Het
Trp63	T	C	16: 25,639,436 (GRCm39)	V208A	unknown	Het
Ttll8	G	T	15: 88,799,565 (GRCm39)	N625K	probably benign	Het
Ush2a	T	A	1: 188,132,135 (GRCm39)	W786R	probably benign	Het
Vmn2r97	A	T	17: 19,167,854 (GRCm39)	I703F	probably damaging	Het

Other mutations in Or12d13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Or12d13	APN	17	37,647,474 (GRCm39)	nonsense	probably null
IGL01953:Or12d13	APN	17	37,647,766 (GRCm39)	missense	probably damaging	1.00
IGL02556:Or12d13	APN	17	37,647,887 (GRCm39)	missense	probably benign	0.00
IGL02574:Or12d13	APN	17	37,647,415 (GRCm39)	missense	probably damaging	1.00
IGL02737:Or12d13	APN	17	37,647,664 (GRCm39)	missense	possibly damaging	0.94
IGL02995:Or12d13	APN	17	37,647,600 (GRCm39)	missense	probably damaging	1.00
R1078:Or12d13	UTSW	17	37,647,917 (GRCm39)	missense	probably damaging	0.98
R1466:Or12d13	UTSW	17	37,647,847 (GRCm39)	missense	probably benign	0.43
R1466:Or12d13	UTSW	17	37,647,847 (GRCm39)	missense	probably benign	0.43
R3024:Or12d13	UTSW	17	37,647,918 (GRCm39)	missense	probably damaging	1.00
R3858:Or12d13	UTSW	17	37,648,117 (GRCm39)	nonsense	probably null
R4979:Or12d13	UTSW	17	37,647,759 (GRCm39)	missense	probably benign	0.06
R5062:Or12d13	UTSW	17	37,647,822 (GRCm39)	missense	probably damaging	0.99
R5215:Or12d13	UTSW	17	37,647,704 (GRCm39)	missense	probably benign	0.00
R5441:Or12d13	UTSW	17	37,647,159 (GRCm39)	splice site	probably null
R5453:Or12d13	UTSW	17	37,647,953 (GRCm39)	missense	possibly damaging	0.96
R5525:Or12d13	UTSW	17	37,647,517 (GRCm39)	missense	probably damaging	0.99
R5660:Or12d13	UTSW	17	37,647,535 (GRCm39)	missense	probably damaging	1.00
R5859:Or12d13	UTSW	17	37,647,260 (GRCm39)	missense	possibly damaging	0.61
R6211:Or12d13	UTSW	17	37,647,599 (GRCm39)	missense	possibly damaging	0.90
R6958:Or12d13	UTSW	17	37,647,308 (GRCm39)	missense	probably benign
R7060:Or12d13	UTSW	17	37,647,352 (GRCm39)	missense	probably benign	0.02
R7567:Or12d13	UTSW	17	37,648,062 (GRCm39)	missense	probably benign	0.00
R7784:Or12d13	UTSW	17	37,647,946 (GRCm39)	missense	probably damaging	0.99
R7784:Or12d13	UTSW	17	37,647,469 (GRCm39)	missense	probably benign	0.13
R8284:Or12d13	UTSW	17	37,647,587 (GRCm39)	missense	probably benign	0.01
R8419:Or12d13	UTSW	17	37,647,466 (GRCm39)	missense	possibly damaging	0.75
R8957:Or12d13	UTSW	17	37,647,382 (GRCm39)	missense	probably damaging	1.00
R9761:Or12d13	UTSW	17	37,648,057 (GRCm39)	missense	possibly damaging	0.81
Z1088:Or12d13	UTSW	17	37,647,596 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTGCCTGGTTATTTACACCTCAG -3'
(R):5'- TGGAAACACTGAGCTCAACC -3'

Sequencing Primer
(F):5'- GCCTGGTTATTTACACCTCAGTAGAG -3'
(R):5'- GGAAACACTGAGCTCAACCTTTGG -3'

Posted On

2020-09-15