Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Or10q12'

669925

Institutional Source

Beutler Lab

Gene Symbol

Or10q12

Ensembl Gene

ENSMUSG00000047207

Gene Name

olfactory receptor family 10 subfamily Q member 12

Synonyms

Olfr1495, GA_x6K02T2RE5P-4101369-4102328, MOR266-9

MMRRC Submission

068569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13745708-13746667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13746185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 160 (S160P)

Ref Sequence

ENSEMBL: ENSMUSP00000150205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061669] [ENSMUST00000215930] [ENSMUST00000216980]

AlphaFold

Q8VEZ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000061669
AA Change: S160P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057468
Gene: ENSMUSG00000047207
AA Change: S160P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	35	312	1.4e-52	PFAM
Pfam:7tm_1	45	295	1.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215930
AA Change: S160P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216980
AA Change: S160P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Abce1	A	T	8: 80,427,784 (GRCm39)	I168N	possibly damaging	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,577,673 (GRCm39)	L1761*	probably null	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Exoc2	T	A	13: 31,095,227 (GRCm39)	H223L	probably damaging	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Opn4	G	T	14: 34,315,819 (GRCm39)	R405S	probably benign	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ppp1r12a	G	A	10: 108,096,749 (GRCm39)	R713H	probably damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	possibly damaging	Het

Other mutations in Or10q12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Or10q12	APN	19	13,745,901 (GRCm39)	missense	probably damaging	1.00
IGL01869:Or10q12	APN	19	13,746,534 (GRCm39)	missense	probably benign	0.02
IGL02088:Or10q12	APN	19	13,746,030 (GRCm39)	missense	probably damaging	1.00
R1583:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.10
R1713:Or10q12	UTSW	19	13,746,659 (GRCm39)	missense	probably benign	0.00
R1859:Or10q12	UTSW	19	13,746,088 (GRCm39)	nonsense	probably null
R3717:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3718:Or10q12	UTSW	19	13,746,428 (GRCm39)	missense	probably damaging	0.98
R3881:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R4370:Or10q12	UTSW	19	13,746,315 (GRCm39)	missense	probably benign	0.02
R4873:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R4875:Or10q12	UTSW	19	13,746,126 (GRCm39)	missense	probably damaging	0.99
R6335:Or10q12	UTSW	19	13,746,144 (GRCm39)	missense	probably benign
R6352:Or10q12	UTSW	19	13,745,828 (GRCm39)	missense	probably benign
R7038:Or10q12	UTSW	19	13,745,715 (GRCm39)	missense	probably benign
R7107:Or10q12	UTSW	19	13,746,525 (GRCm39)	missense	probably benign	0.22
R7504:Or10q12	UTSW	19	13,746,096 (GRCm39)	missense	probably damaging	1.00
R7626:Or10q12	UTSW	19	13,745,709 (GRCm39)	start codon destroyed	probably null	0.92
R7812:Or10q12	UTSW	19	13,746,380 (GRCm39)	missense	probably benign	0.05
R7852:Or10q12	UTSW	19	13,745,874 (GRCm39)	missense	probably benign	0.00
R7860:Or10q12	UTSW	19	13,745,716 (GRCm39)	missense	probably benign	0.09
R8183:Or10q12	UTSW	19	13,746,086 (GRCm39)	missense	probably damaging	0.99
R8357:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
R8457:Or10q12	UTSW	19	13,745,721 (GRCm39)	missense	probably benign	0.09
Z1088:Or10q12	UTSW	19	13,745,780 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGATGTGGTGCCCTTGATTC -3'
(R):5'- TGAGCAGGAATGGGACTGTC -3'

Sequencing Primer
(F):5'- AAACCCATATCACTGGCTGGTTG -3'
(R):5'- TGGGACTGTCAGAACTAGGATAC -3'

Posted On

2021-04-30