Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Or12d13'

682128

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

068793-MU

Accession Numbers

Essential gene?

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

Stock #

R8957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37647180-37648121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37647382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 247 (V247A)

Ref Sequence

ENSEMBL: ENSMUSP00000094934 (fasta)

Gene Model

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

AlphaFold

Q920Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000058826
AA Change: V247A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: V247A

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

SMART Domains

Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: V247A

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: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Des	A	T	1: 75,340,295 (GRCm39)	I401F	probably damaging	Het
Dis3	T	C	14: 99,337,027 (GRCm39)	D28G	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Map9	A	G	3: 82,278,687 (GRCm39)	Y229C	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or1a1	T	A	11: 74,086,772 (GRCm39)	S148T	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Smok2b	T	A	17: 13,453,873 (GRCm39)	L11Q	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tmub1	G	T	5: 24,651,775 (GRCm39)	T63K	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	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
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
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'- CTGGTTATTTACACCTCAGTAGAGTTC -3'
(R):5'- TGAGCTCAACCTTTGGCTGC -3'

Sequencing Primer
(F):5'- CACCTCAGTAGAGTTCTTTAGATTTC -3'
(R):5'- GGCTGCTTAATACCGTTACAGG -3'

Posted On

2021-08-31