Mutagenetix > Incidental Mutation

Incidental Mutation 'R0122:Or51q1c'

21092

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

038407-MU

Accession Numbers

Essential gene?

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

Stock #

R0122 (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 103652565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 28 (W28R)

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: W34R

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

SMART Domains

Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: W34R

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: W34R

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: W28R

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

Meta Mutation Damage Score

0.6934

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Adam12	T	A	7: 133,614,077 (GRCm39)	I60F	probably benign	Het
Adamts10	A	G	17: 33,747,454 (GRCm39)		probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Adamts7	A	G	9: 90,061,474 (GRCm39)	E360G	probably damaging	Het
Atn1	A	T	6: 124,720,197 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Baz2b	G	T	2: 59,743,963 (GRCm39)		probably null	Het
Bloc1s6	G	C	2: 122,587,963 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qa	T	A	4: 136,625,142 (GRCm39)	T3S	probably benign	Het
Cacna1e	A	T	1: 154,319,647 (GRCm39)	F1351Y	probably damaging	Het
Car9	C	T	4: 43,512,206 (GRCm39)	A356V	probably benign	Het
Ccdc116	T	A	16: 16,960,598 (GRCm39)	D73V	probably damaging	Het
Ces2g	T	C	8: 105,694,932 (GRCm39)	Y518H	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cmc1	A	T	9: 117,894,388 (GRCm39)	C29S	probably damaging	Het
Coil	T	A	11: 88,875,833 (GRCm39)		probably benign	Het
Col3a1	C	T	1: 45,380,057 (GRCm39)		probably benign	Het
Cox15	A	G	19: 43,737,229 (GRCm39)	I135T	possibly damaging	Het
Cyld	T	C	8: 89,468,920 (GRCm39)	S564P	probably damaging	Het
Dnah5	T	A	15: 28,378,509 (GRCm39)	N2948K	probably damaging	Het
Dnah7a	G	A	1: 53,436,301 (GRCm39)	R4014W	probably damaging	Het
Dnmt3b	T	C	2: 153,518,618 (GRCm39)	Y594H	probably damaging	Het
Dntt	A	G	19: 41,041,477 (GRCm39)	K387R	possibly damaging	Het
Efcab7	G	A	4: 99,749,560 (GRCm39)		probably benign	Het
Flvcr1	G	T	1: 190,753,423 (GRCm39)	P250T	possibly damaging	Het
Gga2	C	A	7: 121,590,797 (GRCm39)	V504L	probably damaging	Het
Gm12239	T	A	11: 55,906,738 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,578,890 (GRCm39)		noncoding transcript	Het
Krt26	G	T	11: 99,224,545 (GRCm39)	Y324*	probably null	Het
Lamb2	A	T	9: 108,363,713 (GRCm39)	H939L	probably benign	Het
Lipo3	C	T	19: 33,600,086 (GRCm39)		probably benign	Het
Mmp1b	G	A	9: 7,386,689 (GRCm39)	T145M	probably damaging	Het
Mrps27	G	T	13: 99,501,736 (GRCm39)	V76L	probably benign	Het
Mup6	T	A	4: 60,003,995 (GRCm39)	Y29*	probably null	Het
Nlrc3	T	C	16: 3,776,822 (GRCm39)	K756E	probably damaging	Het
Nnt	T	C	13: 119,505,133 (GRCm39)	H527R	probably damaging	Het
Nudt8	T	C	19: 4,051,306 (GRCm39)	V59A	probably benign	Het
Ofcc1	A	T	13: 40,434,032 (GRCm39)		probably null	Het
Or10d1	A	T	9: 39,484,020 (GRCm39)	D178E	probably damaging	Het
Or2a25	T	C	6: 42,888,889 (GRCm39)	V144A	probably benign	Het
Pdgfd	T	C	9: 6,293,851 (GRCm39)	S142P	probably damaging	Het
Pias4	G	T	10: 80,992,921 (GRCm39)	Q22K	probably damaging	Het
Pin1	T	C	9: 20,573,600 (GRCm39)	I95T	probably benign	Het
Pramel23	A	T	4: 143,424,974 (GRCm39)	D156E	probably benign	Het
Prickle2	G	A	6: 92,388,326 (GRCm39)	Q359*	probably null	Het
Qrich2	G	T	11: 116,337,639 (GRCm39)	Q1950K	possibly damaging	Het
Rab10	C	A	12: 3,359,357 (GRCm39)	G21V	probably damaging	Het
Rbm27	T	A	18: 42,447,033 (GRCm39)		probably benign	Het
Samd4	C	A	14: 47,254,017 (GRCm39)	S160R	probably benign	Het
Scube3	A	C	17: 28,385,502 (GRCm39)		probably benign	Het
Serpinf2	A	G	11: 75,327,372 (GRCm39)	L185P	probably damaging	Het
Slc16a12	A	G	19: 34,652,264 (GRCm39)	I294T	probably benign	Het
Slc45a3	T	A	1: 131,905,478 (GRCm39)	M167K	probably damaging	Het
Sspo	T	A	6: 48,450,910 (GRCm39)	L2673Q	possibly damaging	Het
Supt3	A	G	17: 45,314,028 (GRCm39)	D139G	probably damaging	Het
Tas1r3	T	C	4: 155,945,290 (GRCm39)	M644V	probably benign	Het
Tgfbi	A	G	13: 56,775,781 (GRCm39)	T276A	probably damaging	Het
Tmem177	T	C	1: 119,838,308 (GRCm39)	I124V	probably benign	Het
Tmprss11f	G	T	5: 86,681,484 (GRCm39)		probably benign	Het
Tmprss3	G	A	17: 31,412,876 (GRCm39)		probably benign	Het
Twf1	A	G	15: 94,484,430 (GRCm39)		probably benign	Het
Uba52	T	A	8: 70,961,951 (GRCm39)	Q166L	probably damaging	Het
Ubr3	G	T	2: 69,809,756 (GRCm39)	G1242V	probably damaging	Het
Unc13d	C	T	11: 115,956,308 (GRCm39)	S835N	probably benign	Het
Ush2a	A	G	1: 188,680,652 (GRCm39)	K4877E	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,662 (GRCm39)	I387V	probably benign	Het
Vps11	A	T	9: 44,265,809 (GRCm39)	I490N	probably damaging	Het
Vstm4	T	A	14: 32,585,768 (GRCm39)		probably null	Het
Zfp110	C	A	7: 12,582,524 (GRCm39)	H391N	possibly damaging	Het
Zfp212	C	T	6: 47,907,957 (GRCm39)	P312L	possibly damaging	Het
Zfp329	A	T	7: 12,544,914 (GRCm39)	H203Q	probably damaging	Het
Zscan12	G	A	13: 21,553,139 (GRCm39)	G321E	probably 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
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
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'- TGTACTTCTCAGGGGCAATCTGTCA -3'
(R):5'- GGCCACATAACGGTCAAAGGACAT -3'

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

Posted On

2013-04-11