Mutagenetix > Incidental Mutation

Incidental Mutation 'R9486:Or1ad1'

716602

Institutional Source

Beutler Lab

Gene Symbol

Or1ad1

Ensembl Gene

ENSMUSG00000061952

Gene Name

olfactory receptor family 1 subfamily AD member 1

Synonyms

Olfr1377, MOR129-1, GA_x6K02T2QP88-4453480-4452557

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R9486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50875530-50876453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50875691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 54 (H54Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075177] [ENSMUST00000213291] [ENSMUST00000216101]

AlphaFold

Q8VGH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075177
AA Change: H54Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074672
Gene: ENSMUSG00000061952
AA Change: H54Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2e-51	PFAM
Pfam:7tm_1	41	289	1.4e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213291
AA Change: H54Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216101
AA Change: H54Q

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,942 (GRCm39)	F396L	probably damaging	Het
Abca13	T	C	11: 9,240,621 (GRCm39)	I828T	possibly damaging	Het
Ace3	A	T	11: 105,896,219 (GRCm39)	T722S	probably benign	Het
Acot2	A	G	12: 84,039,426 (GRCm39)	T312A	probably benign	Het
Adra2a	A	G	19: 54,035,963 (GRCm39)	I440V	probably damaging	Het
Arhgap22	T	A	14: 33,073,303 (GRCm39)	M4K	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bcl2	T	A	1: 106,471,109 (GRCm39)	Y199F	probably benign	Het
Brca1	A	T	11: 101,414,520 (GRCm39)	C1205S	probably benign	Het
Col7a1	T	C	9: 108,811,396 (GRCm39)	V2743A	unknown	Het
Crybg1	A	G	10: 43,880,145 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,808 (GRCm39)	H502L	probably benign	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Cyp4a29	T	C	4: 115,106,916 (GRCm39)	M191T	probably damaging	Het
Dcaf1	A	G	9: 106,735,916 (GRCm39)	R955G	possibly damaging	Het
Dcaf4	G	T	12: 83,582,726 (GRCm39)	A274S	probably damaging	Het
Dlx1	A	G	2: 71,362,828 (GRCm39)	H245R	probably damaging	Het
Dnah14	A	G	1: 181,508,494 (GRCm39)	N1891D	possibly damaging	Het
Dock10	A	T	1: 80,479,452 (GRCm39)	V2167D	unknown	Het
Epyc	A	G	10: 97,511,697 (GRCm39)	Q230R	probably benign	Het
Etnk1	G	A	6: 143,130,310 (GRCm39)	R143H	probably damaging	Het
Fhip2b	T	C	14: 70,826,479 (GRCm39)	D203G	probably benign	Het
Fmo2	T	C	1: 162,708,292 (GRCm39)	E281G	probably damaging	Het
Gm2042	T	A	12: 87,925,963 (GRCm39)	Y304N	possibly damaging	Het
Hecw2	T	C	1: 53,852,466 (GRCm39)	D1551G	probably damaging	Het
Hgd	A	T	16: 37,413,811 (GRCm39)	D91V	probably benign	Het
Hspa12a	A	G	19: 58,797,891 (GRCm39)	F276L	probably benign	Het
Ifitm10	C	T	7: 141,909,812 (GRCm39)	V95M	probably damaging	Het
Ints3	G	A	3: 90,313,579 (GRCm39)	R350*	probably null	Het
Kdm4c	T	A	4: 74,252,966 (GRCm39)	I511K	probably benign	Het
Kif27	A	G	13: 58,492,348 (GRCm39)	S264P	probably damaging	Het
L1td1	A	G	4: 98,624,899 (GRCm39)	T365A	probably benign	Het
Ltbp2	T	A	12: 84,878,648 (GRCm39)	T304S	possibly damaging	Het
Mamdc4	T	A	2: 25,455,164 (GRCm39)	Y962F	probably benign	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mfsd8	C	T	3: 40,789,627 (GRCm39)	R140H	probably damaging	Het
Mmp3	A	G	9: 7,451,256 (GRCm39)	I331V	possibly damaging	Het
Mpdz	T	A	4: 81,254,043 (GRCm39)	I1030F	probably damaging	Het
Mtx1	A	T	3: 89,120,163 (GRCm39)	C62S		Het
Muc20	A	T	16: 32,615,248 (GRCm39)	V43E	possibly damaging	Het
Naa25	A	G	5: 121,577,958 (GRCm39)	E955G	probably damaging	Het
Nelfcd	A	G	2: 174,268,635 (GRCm39)	Y562C	probably damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Obscn	T	C	11: 58,918,272 (GRCm39)	T207A		Het
Or4a39	C	T	2: 89,236,959 (GRCm39)	V155M	possibly damaging	Het
Or4k5	T	A	14: 50,385,672 (GRCm39)	I220L	probably benign	Het
Osbpl11	A	T	16: 33,006,283 (GRCm39)	N37I	possibly damaging	Het
Pcdh9	A	G	14: 93,797,956 (GRCm39)	S1032P	possibly damaging	Het
Pde6b	T	A	5: 108,551,241 (GRCm39)	I175N	probably damaging	Het
Pfkl	T	A	10: 77,824,184 (GRCm39)	M735L	probably benign	Het
Pkp4	T	C	2: 59,138,722 (GRCm39)	V324A	probably benign	Het
Ptprb	T	A	10: 116,155,494 (GRCm39)	C462*	probably null	Het
Rasal3	T	C	17: 32,617,910 (GRCm39)	N221S	probably benign	Het
Reep1	A	T	6: 71,684,969 (GRCm39)	I6F	probably benign	Het
Rhobtb1	T	A	10: 69,106,621 (GRCm39)	F457L	probably damaging	Het
Ryr1	T	C	7: 28,777,965 (GRCm39)	N2184S	probably benign	Het
Scn11a	T	G	9: 119,624,774 (GRCm39)	H516P	possibly damaging	Het
Sipa1l1	T	C	12: 82,404,139 (GRCm39)		probably null	Het
Slc17a7	A	G	7: 44,821,606 (GRCm39)	N381S	possibly damaging	Het
Slc38a3	C	T	9: 107,536,322 (GRCm39)	V25M	probably benign	Het
Spag1	T	G	15: 36,181,954 (GRCm39)	D37E	probably damaging	Het
Spib	G	T	7: 44,178,815 (GRCm39)	D114E	possibly damaging	Het
Tpx2	A	T	2: 152,726,933 (GRCm39)	Y400F	probably damaging	Het
Trhde	A	G	10: 114,532,014 (GRCm39)	I362T	possibly damaging	Het
Usp17ld	C	T	7: 102,899,381 (GRCm39)	G517E	probably benign	Het
Vmn1r22	A	T	6: 57,877,404 (GRCm39)	M191K	probably damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zdhhc22	C	T	12: 87,030,398 (GRCm39)	M183I	probably benign	Het
Zfp1007	C	A	5: 109,824,062 (GRCm39)	G463*	probably null	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Or1ad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Or1ad1	APN	11	50,875,830 (GRCm39)	missense	possibly damaging	0.94
R1386:Or1ad1	UTSW	11	50,876,194 (GRCm39)	missense	probably damaging	0.97
R1486:Or1ad1	UTSW	11	50,875,608 (GRCm39)	missense	probably benign	0.00
R1613:Or1ad1	UTSW	11	50,876,045 (GRCm39)	missense	probably damaging	1.00
R2224:Or1ad1	UTSW	11	50,876,059 (GRCm39)	missense	probably damaging	1.00
R2411:Or1ad1	UTSW	11	50,875,758 (GRCm39)	missense	probably damaging	0.98
R3014:Or1ad1	UTSW	11	50,875,534 (GRCm39)	missense	probably benign	0.00
R4080:Or1ad1	UTSW	11	50,875,683 (GRCm39)	missense	probably damaging	1.00
R4753:Or1ad1	UTSW	11	50,875,978 (GRCm39)	missense	probably benign	0.05
R4764:Or1ad1	UTSW	11	50,875,602 (GRCm39)	missense	probably benign	0.00
R4822:Or1ad1	UTSW	11	50,875,910 (GRCm39)	nonsense	probably null
R4865:Or1ad1	UTSW	11	50,876,370 (GRCm39)	missense	probably damaging	0.99
R5053:Or1ad1	UTSW	11	50,876,137 (GRCm39)	missense	probably damaging	1.00
R6054:Or1ad1	UTSW	11	50,875,631 (GRCm39)	missense	probably benign	0.00
R6368:Or1ad1	UTSW	11	50,875,613 (GRCm39)	missense	probably benign	0.00
R7589:Or1ad1	UTSW	11	50,875,857 (GRCm39)	missense	probably damaging	0.98
R7843:Or1ad1	UTSW	11	50,875,845 (GRCm39)	missense	probably benign	0.06
R8056:Or1ad1	UTSW	11	50,876,368 (GRCm39)	missense	probably damaging	0.98
R9189:Or1ad1	UTSW	11	50,876,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTCTTCCTCACAGACATGGATG -3'
(R):5'- TGACAGATGGCCACATAGCG -3'

Sequencing Primer
(F):5'- TTCCTCACAGACATGGATGGAGAC -3'
(R):5'- TGGCCACATAGCGGTCATAG -3'

Posted On

2022-07-18