Mutagenetix > Incidental Mutation

Incidental Mutation 'R1723:Or51q1c'

191617

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

039755-MU

Accession Numbers

Essential gene?

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

Stock #

R1723 (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 103652518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 18 (F18S)

Ref Sequence

ENSEMBL: ENSMUSP00000148160 (fasta)

Gene Model

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

AlphaFold

Q8VH20

Predicted Effect

probably damaging
Transcript: ENSMUST00000098184
AA Change: F18S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: F18S

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: F18S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000215653

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218325
AA Change: F12S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	T	6: 85,605,735 (GRCm39)	G2462C	probably damaging	Het
Anapc5	T	C	5: 122,937,406 (GRCm39)	E464G	probably damaging	Het
Aoc3	T	A	11: 101,227,261 (GRCm39)	V378E	possibly damaging	Het
Atp13a5	T	A	16: 29,051,551 (GRCm39)	K1152I	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Calcoco1	C	A	15: 102,627,988 (GRCm39)	G49C	probably damaging	Het
Cd70	T	C	17: 57,453,401 (GRCm39)	T88A	possibly damaging	Het
Cpeb1	C	T	7: 81,085,974 (GRCm39)	R56Q	probably benign	Het
Dglucy	A	G	12: 100,808,938 (GRCm39)	Y212C	probably damaging	Het
Dnhd1	C	A	7: 105,364,127 (GRCm39)	P4160T	possibly damaging	Het
Ecel1	T	C	1: 87,082,143 (GRCm39)	D190G	probably benign	Het
Exoc6b	A	G	6: 85,046,326 (GRCm39)	L21P	probably damaging	Het
Fam110c	A	G	12: 31,124,394 (GRCm39)	R119G	unknown	Het
Gask1b	T	A	3: 79,843,970 (GRCm39)	N32K	probably benign	Het
Gm42791	C	A	5: 148,896,311 (GRCm39)		probably benign	Het
Hpcal4	A	G	4: 123,084,532 (GRCm39)	I154V	probably benign	Het
Itgb1	A	G	8: 129,452,519 (GRCm39)	D728G	probably damaging	Het
Kdm5d	A	T	Y: 927,753 (GRCm39)	D701V	probably damaging	Het
Kif18a	A	G	2: 109,133,227 (GRCm39)	K448E	probably damaging	Het
Kif26a	T	C	12: 112,140,292 (GRCm39)	F507S	possibly damaging	Het
Kmt2c	C	T	5: 25,520,003 (GRCm39)	G2036R	probably damaging	Het
Lrrc43	T	A	5: 123,630,276 (GRCm39)		probably benign	Het
Map3k20	T	C	2: 72,219,836 (GRCm39)	I256T	probably damaging	Het
Med29	T	A	7: 28,092,130 (GRCm39)		probably benign	Het
Mob3b	A	G	4: 34,954,026 (GRCm39)	C215R	probably damaging	Het
Mtf2	T	C	5: 108,235,936 (GRCm39)	Y87H	probably damaging	Het
Myo18a	G	A	11: 77,744,140 (GRCm39)	R1834K	probably damaging	Het
Nlrc4	T	A	17: 74,748,903 (GRCm39)	D779V	probably damaging	Het
Otud3	T	C	4: 138,625,329 (GRCm39)	T242A	probably damaging	Het
Pcare	A	T	17: 72,057,373 (GRCm39)	F768Y	probably damaging	Het
Pnliprp1	T	A	19: 58,720,574 (GRCm39)	M150K	possibly damaging	Het
Polm	T	A	11: 5,784,776 (GRCm39)	Q227L	probably benign	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppfia2	T	A	10: 106,751,533 (GRCm39)		probably null	Het
Rad51	T	G	2: 118,954,295 (GRCm39)	M168R	probably benign	Het
Senp2	A	G	16: 21,846,792 (GRCm39)	T266A	probably benign	Het
Sfswap	A	G	5: 129,616,758 (GRCm39)	T401A	probably benign	Het
Slc35a4	C	A	18: 36,815,788 (GRCm39)	T206K	possibly damaging	Het
Slc40a1	A	G	1: 45,963,921 (GRCm39)	S23P	probably damaging	Het
Spef2	T	C	15: 9,614,295 (GRCm39)	K1217R	probably damaging	Het
St18	A	C	1: 6,880,909 (GRCm39)		probably benign	Het
Tdrd6	T	C	17: 43,939,218 (GRCm39)	D610G	possibly damaging	Het
Tmem163	C	A	1: 127,479,108 (GRCm39)	R137L	probably damaging	Het
Tmem94	T	A	11: 115,685,574 (GRCm39)	D942E	probably damaging	Het
Ttn	T	A	2: 76,580,754 (GRCm39)	I23380F	possibly damaging	Het
Uckl1	T	A	2: 181,212,393 (GRCm39)		probably null	Het
Vav2	T	C	2: 27,208,976 (GRCm39)	D99G	possibly damaging	Het
Vmn2r30	T	A	7: 7,337,259 (GRCm39)	I126F	probably benign	Het
Zbtb41	A	T	1: 139,351,301 (GRCm39)	Q138L	probably benign	Het
Zfp599	T	C	9: 22,169,361 (GRCm39)	Y37C	probably damaging	Het
Zfp784	T	A	7: 5,038,782 (GRCm39)	T259S	possibly damaging	Het
Zfp954	T	C	7: 7,118,837 (GRCm39)	S236G	probably benign	Het
Zng1	A	G	19: 24,925,458 (GRCm39)	V166A	possibly damaging	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
R0312:Or51q1c	UTSW	7	103,653,232 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTACTTCTCAGGGGCAATCTGTCA -3'
(R):5'- AGCTGATTTCCCGAATGTTGAACCA -3'

Sequencing Primer
(F):5'- CTCAGGGGCAATCTGTCATATATAC -3'
(R):5'- TGTTGAACCAGAGGACCTGC -3'

Posted On

2014-05-14