Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Or10d5'

634554

Institutional Source

Beutler Lab

Gene Symbol

Or10d5

Ensembl Gene

ENSMUSG00000043331

Gene Name

olfactory receptor family 10 subfamily D member 5

Synonyms

MOR224-2, GA_x6K02T2PVTD-33651220-33650288, Olfr975

MMRRC Submission

067604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39861133-39862065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39861708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 120 (R120C)

Ref Sequence

ENSEMBL: ENSMUSP00000059776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054067] [ENSMUST00000169307]

AlphaFold

Q8VG91

Predicted Effect

probably benign
Transcript: ENSMUST00000054067
AA Change: R120C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: R120C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.9e-51	PFAM
Pfam:7TM_GPCR_Srsx	33	249	1.8e-7	PFAM
Pfam:7tm_1	39	286	3.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169307

SMART Domains

Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	1.5e-48	PFAM
Pfam:7TM_GPCR_Srsx	47	271	1.1e-5	PFAM
Pfam:7tm_1	53	300	2.8e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,225,541 (GRCm39)	A191T	probably benign	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,105,668 (GRCm39)	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Clmp	T	C	9: 40,692,475 (GRCm39)	F248S	probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Ddx54	T	A	5: 120,765,167 (GRCm39)	M812K	probably benign	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,527,134 (GRCm39)	D491G	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,072,196 (GRCm39)	I346T	probably damaging	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	probably benign	Het

Other mutations in Or10d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01480:Or10d5	APN	9	39,861,284 (GRCm39)	missense	probably benign	0.01
IGL01537:Or10d5	APN	9	39,861,921 (GRCm39)	missense	probably benign	0.00
IGL01963:Or10d5	APN	9	39,861,536 (GRCm39)	missense	probably damaging	1.00
IGL02400:Or10d5	APN	9	39,861,635 (GRCm39)	missense	probably benign
IGL03115:Or10d5	APN	9	39,862,040 (GRCm39)	missense	probably damaging	0.98
IGL03226:Or10d5	APN	9	39,861,719 (GRCm39)	splice site	probably null
R0088:Or10d5	UTSW	9	39,861,671 (GRCm39)	missense	probably benign	0.03
R0212:Or10d5	UTSW	9	39,861,236 (GRCm39)	missense	probably benign	0.44
R1668:Or10d5	UTSW	9	39,861,465 (GRCm39)	missense	possibly damaging	0.94
R1878:Or10d5	UTSW	9	39,862,053 (GRCm39)	missense	probably benign	0.35
R2225:Or10d5	UTSW	9	39,861,833 (GRCm39)	missense	possibly damaging	0.84
R2291:Or10d5	UTSW	9	39,861,630 (GRCm39)	missense	probably benign	0.19
R2420:Or10d5	UTSW	9	39,861,824 (GRCm39)	missense	possibly damaging	0.47
R2421:Or10d5	UTSW	9	39,861,824 (GRCm39)	missense	possibly damaging	0.47
R2422:Or10d5	UTSW	9	39,861,824 (GRCm39)	missense	possibly damaging	0.47
R2425:Or10d5	UTSW	9	39,861,137 (GRCm39)	missense	probably null	0.25
R2918:Or10d5	UTSW	9	39,861,660 (GRCm39)	missense	probably benign
R4536:Or10d5	UTSW	9	39,861,731 (GRCm39)	missense	probably damaging	1.00
R4709:Or10d5	UTSW	9	39,861,165 (GRCm39)	missense	probably damaging	0.97
R4831:Or10d5	UTSW	9	39,861,408 (GRCm39)	missense	probably benign	0.01
R4921:Or10d5	UTSW	9	39,861,521 (GRCm39)	missense	probably damaging	0.98
R5113:Or10d5	UTSW	9	39,861,221 (GRCm39)	missense	probably damaging	0.99
R5141:Or10d5	UTSW	9	39,861,170 (GRCm39)	missense	probably benign	0.07
R5195:Or10d5	UTSW	9	39,861,975 (GRCm39)	missense	probably benign
R5213:Or10d5	UTSW	9	39,861,389 (GRCm39)	missense	probably damaging	0.99
R5568:Or10d5	UTSW	9	39,861,983 (GRCm39)	missense	probably benign	0.05
R6993:Or10d5	UTSW	9	39,861,933 (GRCm39)	missense	probably benign
R7080:Or10d5	UTSW	9	39,861,444 (GRCm39)	missense	probably damaging	1.00
R7436:Or10d5	UTSW	9	39,861,349 (GRCm39)	nonsense	probably null
R8178:Or10d5	UTSW	9	39,861,708 (GRCm39)	missense	probably benign	0.05
R8382:Or10d5	UTSW	9	39,861,455 (GRCm39)	missense	probably benign	0.21
R8402:Or10d5	UTSW	9	39,861,713 (GRCm39)	missense	probably benign	0.39
R8511:Or10d5	UTSW	9	39,861,455 (GRCm39)	missense	probably benign	0.21
R8798:Or10d5	UTSW	9	39,862,013 (GRCm39)	missense	probably benign	0.40
R9068:Or10d5	UTSW	9	39,862,087 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTACAGCTTGTGCCAGAGAG -3'
(R):5'- AACCTGTCAGTGCTCGATATC -3'

Sequencing Primer
(F):5'- ACCACTGGAATGTCGCAG -3'
(R):5'- ACCTGTCAGTGCTCGATATCTTTTTC -3'

Posted On

2020-07-13