Mutagenetix > Incidental Mutation

Incidental Mutation 'R9780:Or51b17'

733977

Institutional Source

Beutler Lab

Gene Symbol

Or51b17

Ensembl Gene

ENSMUSG00000063615

Gene Name

olfactory receptor family 51 subfamily B member 17

Synonyms

GA_x6K02T2PBJ9-6648196-6649143, Olfr64, 5'[b]2, MOR1-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R9780 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103542017-103543678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103542631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 104 (S104P)

Ref Sequence

ENSEMBL: ENSMUSP00000080444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081748]

AlphaFold

F8VPZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000081748
AA Change: S104P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080444
Gene: ENSMUSG00000063615
AA Change: S104P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	307	2.4e-113	PFAM
Pfam:7TM_GPCR_Srsx	33	295	4.2e-6	PFAM
Pfam:7tm_1	39	290	1.1e-22	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,911,447 (GRCm39)	T1344A	probably benign	Het
Actrt3	T	A	3: 30,652,876 (GRCm39)	I73F	probably damaging	Het
Ankrd24	T	C	10: 81,482,196 (GRCm39)	S915P	possibly damaging	Het
Ano1	A	T	7: 144,209,358 (GRCm39)	F281I	probably damaging	Het
Arhgap42	A	G	9: 9,059,102 (GRCm39)	V148A	probably benign	Het
Arnt2	A	G	7: 83,954,426 (GRCm39)	I256T	probably benign	Het
Bloc1s3	G	A	7: 19,241,408 (GRCm39)	S40L	possibly damaging	Het
Cep68	G	A	11: 20,192,142 (GRCm39)	P19L	probably benign	Het
Chst9	T	A	18: 15,586,221 (GRCm39)	Q114L	probably benign	Het
Cpa2	T	A	6: 30,545,536 (GRCm39)	F106I	probably benign	Het
Cplane1	A	G	15: 8,258,123 (GRCm39)	E2123G	probably benign	Het
Crocc	T	C	4: 140,756,556 (GRCm39)	D1187G	probably benign	Het
Dhx8	A	T	11: 101,632,403 (GRCm39)	D454V	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif3a	A	T	19: 60,766,398 (GRCm39)	L310H	probably damaging	Het
Ergic3	C	A	2: 155,853,164 (GRCm39)	Y202*	probably null	Het
Fam117a	A	T	11: 95,268,309 (GRCm39)	I237L	possibly damaging	Het
Fcsk	T	C	8: 111,613,743 (GRCm39)	M773V	probably benign	Het
Gcnt4	T	A	13: 97,083,948 (GRCm39)	S415T	probably benign	Het
Hacl1	C	A	14: 31,362,519 (GRCm39)	V43L	possibly damaging	Het
Hbb-bh2	A	G	7: 103,489,624 (GRCm39)	L4P	probably damaging	Het
Hmbs	A	G	9: 44,247,985 (GRCm39)	L357P	probably damaging	Het
Hpcal1	A	G	12: 17,836,494 (GRCm39)	Y108C	probably damaging	Het
Hspa14	A	T	2: 3,490,741 (GRCm39)	M482K	probably damaging	Het
Ifi27l2b	G	T	12: 103,417,461 (GRCm39)	P242Q	unknown	Het
Insyn1	A	G	9: 58,406,881 (GRCm39)	N264D	probably damaging	Het
Itpr1	T	C	6: 108,487,795 (GRCm39)	V2407A	probably benign	Het
Lcp1	T	C	14: 75,440,178 (GRCm39)	F154S	probably damaging	Het
Lmod2	T	C	6: 24,604,233 (GRCm39)	S403P	probably damaging	Het
Lrrc63	G	A	14: 75,360,500 (GRCm39)	A334V	probably damaging	Het
Lrriq1	T	A	10: 103,025,824 (GRCm39)	T933S	probably damaging	Het
Mga	A	G	2: 119,747,253 (GRCm39)	Y468C	probably benign	Het
Msh4	T	C	3: 153,582,342 (GRCm39)	Y510C	probably damaging	Het
Myh11	T	C	16: 14,064,613 (GRCm39)	K235R		Het
Nek2	A	T	1: 191,554,738 (GRCm39)	D150V	probably damaging	Het
Nfkbil1	C	A	17: 35,439,898 (GRCm39)	R205L	possibly damaging	Het
Nox3	A	G	17: 3,736,260 (GRCm39)	F122S	possibly damaging	Het
Nrxn1	A	G	17: 90,931,042 (GRCm39)	V718A	possibly damaging	Het
Oplah	A	G	15: 76,181,940 (GRCm39)	I1061T	probably damaging	Het
Or13e8	G	A	4: 43,697,193 (GRCm39)		probably benign	Het
Or2y16	G	A	11: 49,335,014 (GRCm39)	C112Y	possibly damaging	Het
Or9m1	A	G	2: 87,733,426 (GRCm39)	L198P	probably damaging	Het
Pcf11	A	T	7: 92,313,313 (GRCm39)	D123E	possibly damaging	Het
Pcna	C	T	2: 132,094,794 (GRCm39)	E55K	probably benign	Het
Pip5k1c	T	C	10: 81,141,030 (GRCm39)	V46A	probably benign	Het
Plce1	T	G	19: 38,609,134 (GRCm39)	L481R	possibly damaging	Het
Psma7	A	T	2: 179,678,339 (GRCm39)	Y228N	unknown	Het
Rcbtb1	T	A	14: 59,465,796 (GRCm39)	Y380N	probably benign	Het
Rin2	A	T	2: 145,718,551 (GRCm39)	E677V	probably damaging	Het
Scgb2b11	A	G	7: 31,909,861 (GRCm39)	L75P	probably damaging	Het
Scn4a	A	G	11: 106,226,235 (GRCm39)	V775A	probably damaging	Het
Setx	A	G	2: 29,016,999 (GRCm39)	D34G	possibly damaging	Het
Slc38a9	A	T	13: 112,862,591 (GRCm39)	D430V	probably damaging	Het
Snapc4	A	T	2: 26,267,019 (GRCm39)	N77K	possibly damaging	Het
Stk32a	T	G	18: 43,375,049 (GRCm39)	F20V	probably benign	Het
Taf1b	G	A	12: 24,564,818 (GRCm39)	G145D	probably damaging	Het
Tomt	G	C	7: 101,549,536 (GRCm39)	Q251E	probably benign	Het
Tsc1	G	A	2: 28,565,761 (GRCm39)	E471K	probably damaging	Het
Ttll9	G	A	2: 152,836,023 (GRCm39)	A256T	possibly damaging	Het
Ttn	A	T	2: 76,774,289 (GRCm39)	C2252S	probably benign	Het
Ttn	A	T	2: 76,785,035 (GRCm39)	D797E	unknown	Het
Usf3	T	A	16: 44,039,181 (GRCm39)	N1220K	possibly damaging	Het
Usp22	A	T	11: 61,050,069 (GRCm39)	H355Q	probably benign	Het
Virma	T	A	4: 11,513,442 (GRCm39)	V432E	possibly damaging	Het
Vtn	A	C	11: 78,393,003 (GRCm39)	D456A	probably damaging	Het
Zbbx	A	G	3: 74,945,359 (GRCm39)	S688P	probably damaging	Het
Zfhx2	C	A	14: 55,312,494 (GRCm39)	D67Y	probably benign	Het
Zfp87	T	C	13: 67,665,241 (GRCm39)	H407R	probably damaging	Het

Other mutations in Or51b17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Or51b17	APN	7	103,542,071 (GRCm39)	nonsense	probably null
IGL01597:Or51b17	APN	7	103,542,303 (GRCm39)	missense	probably benign	0.01
IGL01868:Or51b17	APN	7	103,542,583 (GRCm39)	nonsense	probably null
IGL02502:Or51b17	APN	7	103,542,696 (GRCm39)	missense	probably damaging	0.99
R0294:Or51b17	UTSW	7	103,542,137 (GRCm39)	missense	probably benign	0.09
R0534:Or51b17	UTSW	7	103,542,438 (GRCm39)	missense	probably benign	0.00
R0838:Or51b17	UTSW	7	103,542,622 (GRCm39)	missense	probably benign	0.00
R1350:Or51b17	UTSW	7	103,542,937 (GRCm39)	missense	probably benign	0.01
R1733:Or51b17	UTSW	7	103,542,118 (GRCm39)	missense	probably benign	0.40
R1768:Or51b17	UTSW	7	103,542,484 (GRCm39)	missense	probably benign	0.28
R1780:Or51b17	UTSW	7	103,542,762 (GRCm39)	missense	probably damaging	1.00
R1836:Or51b17	UTSW	7	103,542,592 (GRCm39)	missense	probably damaging	0.98
R1956:Or51b17	UTSW	7	103,542,925 (GRCm39)	missense	probably benign	0.01
R2075:Or51b17	UTSW	7	103,542,127 (GRCm39)	missense	probably damaging	0.96
R4677:Or51b17	UTSW	7	103,542,615 (GRCm39)	missense	probably damaging	1.00
R4884:Or51b17	UTSW	7	103,542,862 (GRCm39)	missense	probably benign	0.04
R4899:Or51b17	UTSW	7	103,542,672 (GRCm39)	missense	possibly damaging	0.54
R5753:Or51b17	UTSW	7	103,542,408 (GRCm39)	missense	probably damaging	1.00
R6351:Or51b17	UTSW	7	103,542,342 (GRCm39)	nonsense	probably null
R6997:Or51b17	UTSW	7	103,542,238 (GRCm39)	missense	probably benign	0.00
R8319:Or51b17	UTSW	7	103,542,636 (GRCm39)	missense	probably damaging	1.00
R8337:Or51b17	UTSW	7	103,542,256 (GRCm39)	missense	probably benign
R8984:Or51b17	UTSW	7	103,542,816 (GRCm39)	missense	probably benign	0.01
X0017:Or51b17	UTSW	7	103,542,358 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCAGTTTCATGACATCTTGG -3'
(R):5'- GGATGACCACAACCTCCATG -3'

Sequencing Primer
(F):5'- CATGACATCTTGGTGGAGGCAG -3'
(R):5'- ATGAACCCATGTACTATTTCCTTGC -3'

Posted On

2022-11-14