Mutagenetix > Incidental Mutation

Incidental Mutation 'R7567:Or12d13'

585555

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

MMRRC Submission

045629-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7567 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37647180-37648121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37648062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 20 (E20D)

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: E20D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: E20D

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: E20D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: E20D

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: 99.6%
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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,226,838 (GRCm39)	Q464H	probably damaging	Het
Abcc5	A	T	16: 20,224,260 (GRCm39)	S108T	probably damaging	Het
Acss3	T	C	10: 106,959,174 (GRCm39)	S91G	probably benign	Het
Adgrf4	T	A	17: 42,978,333 (GRCm39)	I337L	probably benign	Het
Adgrv1	A	G	13: 81,581,648 (GRCm39)	S4799P	probably benign	Het
Adgrv1	T	C	13: 81,727,596 (GRCm39)	D348G	probably damaging	Het
Afdn	A	G	17: 14,109,070 (GRCm39)	D1546G	probably benign	Het
Agr2	A	T	12: 36,045,946 (GRCm39)	R64S	probably benign	Het
Ankrd13a	T	A	5: 114,927,545 (GRCm39)		probably null	Het
Apon	T	A	10: 128,090,922 (GRCm39)	M200K	possibly damaging	Het
Art4	T	C	6: 136,831,428 (GRCm39)	S238G	possibly damaging	Het
Atp2a2	A	T	5: 122,629,847 (GRCm39)	V74D	probably benign	Het
Atrnl1	T	C	19: 57,687,955 (GRCm39)	S807P	probably damaging	Het
C2cd3	T	C	7: 100,080,022 (GRCm39)	V936A		Het
Car15	T	A	16: 17,654,652 (GRCm39)	H122L	probably damaging	Het
Cav3	A	T	6: 112,449,428 (GRCm39)	R149W	probably benign	Het
Ccdc8	A	T	7: 16,728,687 (GRCm39)	I59F	probably damaging	Het
Ccng2	G	A	5: 93,418,731 (GRCm39)	V119I	probably benign	Het
Ceacam2	A	G	7: 25,227,333 (GRCm39)	I178T	probably benign	Het
Ces2a	A	G	8: 105,467,930 (GRCm39)	D520G	probably benign	Het
Cln8	T	C	8: 14,945,057 (GRCm39)	S124P	probably benign	Het
Coro2a	T	A	4: 46,546,674 (GRCm39)	D227V	probably damaging	Het
Cpa4	A	C	6: 30,573,889 (GRCm39)	R32S	probably benign	Het
Creb3l4	G	T	3: 90,149,729 (GRCm39)	D45E	probably benign	Het
Crybb2	C	T	5: 113,213,759 (GRCm39)		probably null	Het
Cul7	T	A	17: 46,965,521 (GRCm39)	H566Q	probably benign	Het
Cyp2b10	A	G	7: 25,614,204 (GRCm39)	Y226C	probably damaging	Het
Dennd2a	A	T	6: 39,499,743 (GRCm39)	V274D	probably benign	Het
Dmbt1	G	A	7: 130,663,093 (GRCm39)		probably null	Het
Drc7	T	C	8: 95,794,684 (GRCm39)	I363T	probably benign	Het
Drd3	G	A	16: 43,643,047 (GRCm39)	V396I	probably benign	Het
Dync2i1	A	T	12: 116,218,130 (GRCm39)		probably null	Het
Eif2ak4	A	G	2: 118,280,795 (GRCm39)	N1054S	probably benign	Het
Epc1	A	C	18: 6,450,084 (GRCm39)	V458G	probably damaging	Het
Exoc1	T	A	5: 76,685,562 (GRCm39)	D91E	probably damaging	Het
Fat4	T	A	3: 38,943,485 (GRCm39)	F793I	probably damaging	Het
Fhod1	T	C	8: 106,074,469 (GRCm39)	E6G	unknown	Het
Galnt16	G	A	12: 80,628,084 (GRCm39)		probably null	Het
Ganc	A	T	2: 120,286,582 (GRCm39)	T804S	probably benign	Het
Gpam	A	T	19: 55,070,062 (GRCm39)	V398E	possibly damaging	Het
Gpr68	A	G	12: 100,844,623 (GRCm39)	V307A	probably benign	Het
Grm7	C	T	6: 111,335,722 (GRCm39)	S711L	probably damaging	Het
Hemgn	T	A	4: 46,397,034 (GRCm39)	R67S	probably damaging	Het
Hmg20b	T	C	10: 81,182,493 (GRCm39)	D281G	possibly damaging	Het
Ifi211	A	C	1: 173,729,401 (GRCm39)	F277V	probably damaging	Het
Ighmbp2	T	C	19: 3,322,981 (GRCm39)	I322V	probably benign	Het
Iqce	A	T	5: 140,671,830 (GRCm39)	L265H	probably damaging	Het
Itgal	G	T	7: 126,898,960 (GRCm39)	A101S	probably benign	Het
Kif5a	C	T	10: 127,073,248 (GRCm39)	M647I	probably benign	Het
Kirrel1	G	T	3: 87,002,988 (GRCm39)	T135K	probably damaging	Het
Klf16	T	C	10: 80,412,622 (GRCm39)	Y138C	probably benign	Het
Klhl7	A	G	5: 24,331,844 (GRCm39)	T49A	probably benign	Het
Mr1	T	C	1: 155,022,474 (GRCm39)		probably benign	Het
Mrc1	A	T	2: 14,330,104 (GRCm39)	I1238F	probably damaging	Het
Ncoa5	C	T	2: 164,846,171 (GRCm39)	M225I	possibly damaging	Het
Nf1	A	T	11: 79,438,052 (GRCm39)	T121S	probably damaging	Het
Ngfr	T	C	11: 95,465,147 (GRCm39)	T234A	probably benign	Het
Ninj1	T	G	13: 49,347,356 (GRCm39)	F74V	probably damaging	Het
Npffr1	T	C	10: 61,462,088 (GRCm39)	V408A	probably benign	Het
Nsd2	T	C	5: 34,003,570 (GRCm39)	V240A	probably damaging	Het
Obi1	T	C	14: 104,716,814 (GRCm39)	T520A	probably damaging	Het
Or2z2	A	G	11: 58,345,992 (GRCm39)	M261T	probably damaging	Het
Or7a35	T	A	10: 78,853,379 (GRCm39)	F74L	probably benign	Het
Or8b44	G	A	9: 38,410,369 (GRCm39)	V135I	probably benign	Het
Or8g34	T	C	9: 39,373,173 (GRCm39)	S146P	possibly damaging	Het
Ovol1	T	C	19: 5,601,614 (GRCm39)	H136R	probably damaging	Het
Prag1	T	A	8: 36,569,760 (GRCm39)	D114E	possibly damaging	Het
Pramel17	T	C	4: 101,694,331 (GRCm39)	N184S	probably benign	Het
Prss3b	C	A	6: 41,010,127 (GRCm39)	R69L	probably benign	Het
Prss57	T	A	10: 79,623,234 (GRCm39)	H71L	probably benign	Het
Ptgs2	T	C	1: 149,978,448 (GRCm39)	F187L	probably damaging	Het
Ptprz1	A	T	6: 22,959,779 (GRCm39)	N92I	probably damaging	Het
Rab23	A	T	1: 33,773,812 (GRCm39)	T91S	possibly damaging	Het
Rag1	A	G	2: 101,474,006 (GRCm39)	S379P	probably damaging	Het
Ribc2	G	T	15: 85,027,448 (GRCm39)	D310Y	probably damaging	Het
Rims1	A	G	1: 22,507,291 (GRCm39)	Y620H	probably damaging	Het
Rock1	A	C	18: 10,090,820 (GRCm39)	V938G	probably benign	Het
Rsph10b	A	G	5: 143,886,244 (GRCm39)	N314S	possibly damaging	Het
Sertad1	A	G	7: 27,189,327 (GRCm39)	D216G	possibly damaging	Het
Shisal1	G	A	15: 84,290,914 (GRCm39)	T131M	probably benign	Het
Slco6d1	T	A	1: 98,425,252 (GRCm39)	V600D	probably damaging	Het
Snapc2	T	C	8: 4,305,314 (GRCm39)	I232T	probably damaging	Het
Snx13	A	G	12: 35,136,913 (GRCm39)	S125G	probably damaging	Het
Srcin1	C	T	11: 97,425,551 (GRCm39)	R502H	probably damaging	Het
Tesmin	A	G	19: 3,442,218 (GRCm39)	E167G	possibly damaging	Het
Tex10	T	C	4: 48,468,787 (GRCm39)	I129M	possibly damaging	Het
Tmem235	A	G	11: 117,754,967 (GRCm39)	S140G	probably benign	Het
Trim60	T	A	8: 65,454,177 (GRCm39)	D24V	probably damaging	Het
Ttc39c	A	G	18: 12,822,936 (GRCm39)	E148G	probably benign	Het
Vmn2r70	G	T	7: 85,214,243 (GRCm39)	T303K	probably benign	Het
Wdr48	A	T	9: 119,745,894 (GRCm39)	T426S	possibly damaging	Het
Xirp2	A	T	2: 67,346,326 (GRCm39)	T2856S	probably benign	Het
Zswim8	A	G	14: 20,770,001 (GRCm39)	N1356S	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
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
R7978:Or12d13	UTSW	17	37,647,392 (GRCm39)	missense	probably benign	0.00
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'- AGCAGGGATTCTGTGGTACC -3'
(R):5'- TACACAGGATCTGAGGCTGG -3'

Sequencing Primer
(F):5'- TGAAGCTGAGTTATGCATCCC -3'
(R):5'- TACACAGGATCTGAGGCTGGATTAC -3'

Posted On

2019-10-17