Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Or51q1c'

25286

Institutional Source

Beutler Lab

Gene Symbol

Or51q1c

Ensembl Gene

ENSMUSG00000094063

Gene Name

olfactory receptor family 51 subfamily Q member 1C

Synonyms

Olfr638, MOR5-1, GA_x6K02T2PBJ9-6737723-6738670

MMRRC Submission

038522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103652466-103653431 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103653232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 250 (V250A)

Ref Sequence

ENSEMBL: ENSMUSP00000151996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138055] [ENSMUST00000209757] [ENSMUST00000215653] [ENSMUST00000218325]

AlphaFold

Q8VH20

Predicted Effect

probably damaging
Transcript: ENSMUST00000098184
AA Change: V256A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: V256A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	318	2.6e-119	PFAM
Pfam:7TM_GPCR_Srsx	43	198	9.8e-10	PFAM
Pfam:7tm_1	49	300	7.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209757
AA Change: V256A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215653

Predicted Effect

probably damaging
Transcript: ENSMUST00000218325
AA Change: V250A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.4115

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dhx40	G	A	11: 86,662,775 (GRCm39)	T639I	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Evc	C	T	5: 37,485,885 (GRCm39)	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hlf	G	A	11: 90,278,701 (GRCm39)	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naa35	A	G	13: 59,757,395 (GRCm39)	T257A	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,665,721 (GRCm39)	M509I	probably benign	Het
Spata18	G	A	5: 73,824,224 (GRCm39)	G35E	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		probably null	Het

Other mutations in Or51q1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Or51q1c	APN	7	103,652,842 (GRCm39)	missense	probably damaging	1.00
IGL01901:Or51q1c	APN	7	103,653,274 (GRCm39)	missense	probably damaging	1.00
IGL02040:Or51q1c	APN	7	103,652,614 (GRCm39)	missense	probably damaging	1.00
IGL02756:Or51q1c	APN	7	103,652,866 (GRCm39)	missense	probably damaging	1.00
R0122:Or51q1c	UTSW	7	103,652,565 (GRCm39)	missense	probably damaging	1.00
R0137:Or51q1c	UTSW	7	103,652,709 (GRCm39)	missense	probably benign	0.13
R0650:Or51q1c	UTSW	7	103,652,446 (GRCm39)	splice site	probably null
R0652:Or51q1c	UTSW	7	103,652,446 (GRCm39)	splice site	probably null
R1382:Or51q1c	UTSW	7	103,652,927 (GRCm39)	missense	probably benign	0.01
R1700:Or51q1c	UTSW	7	103,653,329 (GRCm39)	nonsense	probably null
R1723:Or51q1c	UTSW	7	103,652,518 (GRCm39)	missense	probably damaging	0.97
R1745:Or51q1c	UTSW	7	103,653,270 (GRCm39)	missense	probably benign	0.02
R1840:Or51q1c	UTSW	7	103,653,324 (GRCm39)	missense	probably benign	0.00
R3408:Or51q1c	UTSW	7	103,652,550 (GRCm39)	nonsense	probably null
R3413:Or51q1c	UTSW	7	103,653,039 (GRCm39)	missense	probably damaging	0.99
R4441:Or51q1c	UTSW	7	103,653,279 (GRCm39)	missense	probably damaging	1.00
R4727:Or51q1c	UTSW	7	103,653,097 (GRCm39)	missense	probably benign	0.00
R5096:Or51q1c	UTSW	7	103,652,667 (GRCm39)	missense	probably benign	0.08
R5851:Or51q1c	UTSW	7	103,652,659 (GRCm39)	missense	probably benign	0.13
R6133:Or51q1c	UTSW	7	103,652,532 (GRCm39)	missense	possibly damaging	0.58
R6529:Or51q1c	UTSW	7	103,653,133 (GRCm39)	missense	probably benign	0.06
R6572:Or51q1c	UTSW	7	103,648,391 (GRCm39)	splice site	probably null
R6799:Or51q1c	UTSW	7	103,648,006 (GRCm39)	critical splice donor site	probably null
R7267:Or51q1c	UTSW	7	103,653,046 (GRCm39)	missense	probably benign
R9140:Or51q1c	UTSW	7	103,653,322 (GRCm39)	missense	probably damaging	1.00
X0018:Or51q1c	UTSW	7	103,652,638 (GRCm39)	missense	probably benign
X0063:Or51q1c	UTSW	7	103,652,734 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCAGGTCCTCTGGTTCAACATTC -3'
(R):5'- CAGGAGGCGAGTAATTCCTTGACG -3'

Sequencing Primer
(F):5'- TCACCAGTGAGGTCATTGC -3'
(R):5'- GGATCTGCTTGGTCTTTACACTG -3'

Posted On

2013-04-16