Mutagenetix > Incidental Mutation

Incidental Mutation 'R7784:Or12d13'

599473

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

045840-MU

Accession Numbers

Essential gene?

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

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37647180-37648121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37647469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 218 (Y218C)

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: Y218C

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: Y218C

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: Y218C

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: Y218C

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

Meta Mutation Damage Score

0.1950

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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
1700001J03Rik	A	T	5: 146,119,638 (GRCm39)		probably null	Het
3425401B19Rik	A	T	14: 32,381,797 (GRCm39)	S1389R	probably benign	Het
Abca9	A	T	11: 110,045,243 (GRCm39)	C363*	probably null	Het
Actbl2	T	A	13: 111,391,945 (GRCm39)	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,223,197 (GRCm39)	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,739,510 (GRCm39)	W653*	probably null	Het
Akap13	T	A	7: 75,260,076 (GRCm39)	V97D	probably benign	Het
Cacna1d	T	A	14: 29,845,396 (GRCm39)	D613V	probably damaging	Het
Col10a1	C	A	10: 34,270,214 (GRCm39)	P62H	unknown	Het
Cpb2	A	T	14: 75,512,480 (GRCm39)	N298Y	probably damaging	Het
Ddc	A	G	11: 11,789,396 (GRCm39)		probably null	Het
Ddx6	T	C	9: 44,541,439 (GRCm39)		probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Eps8	T	A	6: 137,476,585 (GRCm39)	I605L	probably benign	Het
Eps8l1	T	C	7: 4,475,121 (GRCm39)	L304P	probably damaging	Het
Erbb4	T	A	1: 68,114,658 (GRCm39)	I929F	probably damaging	Het
Erc2	A	T	14: 27,620,551 (GRCm39)	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,479,187 (GRCm39)	D355N		Het
Ffar2	T	C	7: 30,518,683 (GRCm39)	K286E	probably benign	Het
Gabrd	A	G	4: 155,473,389 (GRCm39)		probably null	Het
Ganc	G	A	2: 120,267,149 (GRCm39)	W488*	probably null	Het
Ifi207	T	A	1: 173,557,698 (GRCm39)	M347L	unknown	Het
Kat6b	A	T	14: 21,710,909 (GRCm39)	I619F	probably damaging	Het
Kif26a	A	G	12: 112,144,581 (GRCm39)	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,837,320 (GRCm39)		probably null	Het
Krt39	A	T	11: 99,411,857 (GRCm39)	C76*	probably null	Het
Lcmt1	G	T	7: 123,000,718 (GRCm39)	R84L	probably benign	Het
Lrit1	A	G	14: 36,783,737 (GRCm39)	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,512,397 (GRCm39)		probably null	Het
Med23	C	T	10: 24,778,346 (GRCm39)	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,959,517 (GRCm39)		probably null	Het
Mtmr6	A	G	14: 60,537,894 (GRCm39)	D593G	probably benign	Het
Myo15b	G	A	11: 115,752,166 (GRCm39)	V683M		Het
Neb	T	A	2: 52,125,500 (GRCm39)	M506L		Het
Or2a20	T	A	6: 43,194,322 (GRCm39)	H158Q	possibly damaging	Het
Or9m1	G	A	2: 87,733,537 (GRCm39)	T161I	probably benign	Het
Pdzd8	A	G	19: 59,316,295 (GRCm39)	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,377,544 (GRCm39)	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 92,044,201 (GRCm39)	T350A		Het
Rbp3	A	T	14: 33,676,115 (GRCm39)	H21L	probably benign	Het
Rp1	C	A	1: 4,212,881 (GRCm39)	V1069F	unknown	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Ryr3	A	G	2: 112,606,040 (GRCm39)	F2407L	probably damaging	Het
Septin2	T	A	1: 93,425,166 (GRCm39)	D107E	probably damaging	Het
Septin4	A	G	11: 87,469,834 (GRCm39)	T7A	probably benign	Het
Slc34a3	T	A	2: 25,122,237 (GRCm39)	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,639,936 (GRCm39)	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,889,114 (GRCm39)	E66V	probably damaging	Het
Slco1a7	C	T	6: 141,658,919 (GRCm39)		probably null	Het
Sp140l2	T	A	1: 85,190,195 (GRCm39)		probably null	Het
Spata33	A	G	8: 123,939,991 (GRCm39)	R68G	unknown	Het
Spta1	G	A	1: 174,030,017 (GRCm39)	D928N	probably damaging	Het
St8sia5	A	G	18: 77,342,246 (GRCm39)	S319G	probably benign	Het
Tmem208	A	G	8: 106,055,465 (GRCm39)	D149G	possibly damaging	Het
Trank1	A	T	9: 111,193,171 (GRCm39)	I583F	probably damaging	Het
Trio	C	T	15: 27,764,080 (GRCm39)	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,654,141 (GRCm39)	Q207*	probably null	Het
Tshr	A	G	12: 91,472,079 (GRCm39)	D143G	probably benign	Het
Txlna	C	T	4: 129,525,950 (GRCm39)	R299H	probably damaging	Het
Ush2a	A	T	1: 188,176,789 (GRCm39)	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,642,660 (GRCm39)	K186R	probably damaging	Het
Vars2	C	T	17: 35,969,050 (GRCm39)	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp775	A	G	6: 48,596,183 (GRCm39)	Q19R	possibly 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
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'- ACATGATGGCAATGATTCTGTC -3'
(R):5'- GTGACCATCTGGACCATTGC -3'

Sequencing Primer
(F):5'- CTGTCCTGGTCTAAAGAGCTGC -3'
(R):5'- TCTGTAATGACATCTCGTTTGAGC -3'

Posted On

2019-11-26