Mutagenetix > Incidental Mutation

Incidental Mutation 'R7442:Or12d2'

577052

Institutional Source

Beutler Lab

Gene Symbol

Or12d2

Ensembl Gene

ENSMUSG00000091531

Gene Name

olfactory receptor family 12 subfamily D member 2

Synonyms

Olfr102, MOR250-4, GA_x6K02T2PSCP-1775063-1774137

MMRRC Submission

045518-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37624302-37625328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37624816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 153 (H153L)

Ref Sequence

ENSEMBL: ENSMUSP00000149168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169373] [ENSMUST00000217590]

AlphaFold

B2RT33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169373
AA Change: H153L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126737
Gene: ENSMUSG00000091531
AA Change: H153L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	2.6e-52	PFAM
Pfam:7tm_1	39	289	8.3e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217590
AA Change: H153L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,919 (GRCm39)	I109T	probably damaging	Het
A430033K04Rik	T	C	5: 138,645,509 (GRCm39)	S465P	possibly damaging	Het
Acap3	T	C	4: 155,990,078 (GRCm39)	F753L	probably damaging	Het
Adam9	A	T	8: 25,457,223 (GRCm39)	V635E	probably damaging	Het
Adgre4	T	A	17: 56,159,340 (GRCm39)	V675E	probably benign	Het
Anapc4	T	C	5: 53,014,543 (GRCm39)	Y469H	probably benign	Het
Ankdd1b	T	G	13: 96,561,268 (GRCm39)	K325N	possibly damaging	Het
Aox1	T	C	1: 58,121,172 (GRCm39)	V881A	probably damaging	Het
Arhgap5	A	G	12: 52,563,739 (GRCm39)	T237A	probably benign	Het
Asah1	T	C	8: 41,796,602 (GRCm39)	D331G	possibly damaging	Het
Atp5f1a	G	A	18: 77,866,820 (GRCm39)	R231H	probably benign	Het
Bod1l	G	A	5: 41,964,522 (GRCm39)	P2694L	probably damaging	Het
Bst1	T	C	5: 43,979,084 (GRCm39)	S143P	probably benign	Het
Cacna1b	A	C	2: 24,497,513 (GRCm39)	S2132A	probably benign	Het
Caps2	G	T	10: 112,044,259 (GRCm39)	R486L	probably damaging	Het
Ccdc168	A	G	1: 44,097,868 (GRCm39)	S1077P	possibly damaging	Het
Cd68	T	C	11: 69,556,754 (GRCm39)	T18A	probably benign	Het
Cdk8	T	C	5: 146,229,579 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,932,072 (GRCm39)	I127N	unknown	Het
Dsc3	T	C	18: 20,114,213 (GRCm39)	D347G	probably damaging	Het
Dyrk2	T	C	10: 118,695,786 (GRCm39)	S491G	probably damaging	Het
Edem1	T	A	6: 108,828,266 (GRCm39)	Y530*	probably null	Het
Enc1	A	T	13: 97,383,248 (GRCm39)	H586L	probably benign	Het
Ephb6	T	G	6: 41,594,981 (GRCm39)		probably null	Het
Etv5	G	T	16: 22,254,809 (GRCm39)	Q48K	probably damaging	Het
Exoc3l	A	G	8: 106,019,558 (GRCm39)	W404R	probably damaging	Het
Fbn1	C	A	2: 125,245,132 (GRCm39)	A252S	possibly damaging	Het
Foxe3	A	G	4: 114,782,490 (GRCm39)	S241P	unknown	Het
Gm49380	T	A	9: 44,023,709 (GRCm39)	M180L	probably benign	Het
Hoxd1	A	T	2: 74,593,903 (GRCm39)	D153V	probably damaging	Het
Ifi207	C	T	1: 173,554,997 (GRCm39)	S895N	probably benign	Het
Igf1r	G	A	7: 67,823,026 (GRCm39)	V385M	probably damaging	Het
Ints9	C	T	14: 65,232,513 (GRCm39)	Q191*	probably null	Het
Ktn1	A	G	14: 47,952,097 (GRCm39)	E979G	probably benign	Het
Lama3	G	A	18: 12,605,238 (GRCm39)		probably null	Het
Lrtm2	C	T	6: 119,294,392 (GRCm39)	M246I	probably damaging	Het
Mdm1	T	C	10: 117,982,590 (GRCm39)	V75A	probably benign	Het
Mia3	T	C	1: 183,140,220 (GRCm39)	E165G	probably benign	Het
Mrps21	T	C	3: 95,770,128 (GRCm39)	E67G	probably damaging	Het
Mybpc1	A	C	10: 88,362,155 (GRCm39)	I995S	probably damaging	Het
Mylk2	T	G	2: 152,753,346 (GRCm39)		probably benign	Het
Myo16	G	A	8: 10,322,537 (GRCm39)	C11Y	probably damaging	Het
Nudt18	A	C	14: 70,816,798 (GRCm39)	D134A	probably benign	Het
Obox1	G	T	7: 15,289,491 (GRCm39)	K93N	probably benign	Het
Or2r3	A	T	6: 42,448,434 (GRCm39)	M226K	probably benign	Het
Or56a4	T	C	7: 104,806,289 (GRCm39)	Y200C	probably damaging	Het
Or5ar1	A	T	2: 85,672,096 (GRCm39)	V13D	probably benign	Het
Pkd2l1	T	C	19: 44,145,668 (GRCm39)	H185R	probably benign	Het
Ptpn18	A	G	1: 34,501,831 (GRCm39)	T48A	probably benign	Het
Ptprd	A	T	4: 75,978,058 (GRCm39)	Y583*	probably null	Het
Ptprk	G	A	10: 28,450,815 (GRCm39)	G992D	probably damaging	Het
Setdb2	A	G	14: 59,656,700 (GRCm39)	F206L	probably damaging	Het
Slain1	A	G	14: 103,923,150 (GRCm39)	D247G	probably damaging	Het
Slc10a2	A	T	8: 5,139,086 (GRCm39)	V286E	possibly damaging	Het
Slc44a2	C	T	9: 21,256,819 (GRCm39)	T367I	probably damaging	Het
Slco4a1	T	C	2: 180,115,919 (GRCm39)	V685A	probably benign	Het
Srp54c	T	A	12: 55,302,347 (GRCm39)	Y333N	probably damaging	Het
Srrm2	T	C	17: 24,039,091 (GRCm39)	S1912P	unknown	Het
St7l	A	G	3: 104,796,645 (GRCm39)	T253A	possibly damaging	Het
Styxl2	T	C	1: 165,928,584 (GRCm39)	K343E	probably benign	Het
Sun3	T	G	11: 8,981,445 (GRCm39)	Y53S	possibly damaging	Het
Tktl2	A	G	8: 66,965,561 (GRCm39)	N373S	possibly damaging	Het
Tmco3	T	A	8: 13,370,781 (GRCm39)	S648R	probably damaging	Het
Tmem178	T	A	17: 81,252,185 (GRCm39)	V23D	probably damaging	Het
Tmem229a	C	A	6: 24,955,689 (GRCm39)	G22W	probably damaging	Het
Top3a	C	T	11: 60,644,744 (GRCm39)	S320N	possibly damaging	Het
Treml1	C	A	17: 48,673,719 (GRCm39)	D243E	probably damaging	Het
Trim42	C	T	9: 97,244,998 (GRCm39)	V601M	probably damaging	Het
Ttn	A	G	2: 76,573,350 (GRCm39)	S25848P	probably damaging	Het
Vmn1r86	A	T	7: 12,835,983 (GRCm39)	F298I	possibly damaging	Het
Vmn2r96	T	C	17: 18,793,662 (GRCm39)	F2S	probably benign	Het
Xpc	A	G	6: 91,481,631 (GRCm39)	L230P	probably damaging	Het
Xpo4	A	G	14: 57,867,680 (GRCm39)	V189A	probably benign	Het
Zfhx3	A	G	8: 109,519,468 (GRCm39)	T197A	probably damaging	Het
Zswim1	A	G	2: 164,667,710 (GRCm39)	K321E	probably damaging	Het

Other mutations in Or12d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Or12d2	APN	17	37,624,598 (GRCm39)	missense	possibly damaging	0.90
IGL01947:Or12d2	APN	17	37,624,556 (GRCm39)	missense	probably damaging	1.00
IGL02164:Or12d2	APN	17	37,624,578 (GRCm39)	missense	probably benign	0.01
IGL02465:Or12d2	APN	17	37,624,802 (GRCm39)	missense	probably damaging	0.99
IGL03095:Or12d2	APN	17	37,624,664 (GRCm39)	missense	probably benign	0.01
R0712:Or12d2	UTSW	17	37,624,975 (GRCm39)	missense	probably damaging	0.96
R1572:Or12d2	UTSW	17	37,624,371 (GRCm39)	missense	probably benign
R1749:Or12d2	UTSW	17	37,624,952 (GRCm39)	missense	probably benign	0.05
R3083:Or12d2	UTSW	17	37,625,086 (GRCm39)	missense	probably damaging	1.00
R4022:Or12d2	UTSW	17	37,625,165 (GRCm39)	missense	probably benign
R5203:Or12d2	UTSW	17	37,625,092 (GRCm39)	missense	probably damaging	1.00
R5367:Or12d2	UTSW	17	37,625,147 (GRCm39)	missense	probably damaging	1.00
R5387:Or12d2	UTSW	17	37,625,183 (GRCm39)	missense	probably benign	0.22
R5488:Or12d2	UTSW	17	37,624,559 (GRCm39)	missense	probably damaging	1.00
R6804:Or12d2	UTSW	17	37,625,021 (GRCm39)	missense	probably damaging	1.00
R7473:Or12d2	UTSW	17	37,624,522 (GRCm39)	missense	probably benign	0.03
R8110:Or12d2	UTSW	17	37,624,604 (GRCm39)	missense	probably benign	0.00
R8887:Or12d2	UTSW	17	37,624,642 (GRCm39)	missense	probably damaging	1.00
R9400:Or12d2	UTSW	17	37,624,554 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATGCTGCAAGAACGAGTC -3'
(R):5'- TGGGATGCATAACTCAGCTCC -3'

Sequencing Primer
(F):5'- TCTTGAGGAAAAGATAGGTGATGATG -3'
(R):5'- GGGATGCATAACTCAGCTCCATTTC -3'

Posted On

2019-10-07