Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Or51af1'

564420

Institutional Source

Beutler Lab

Gene Symbol

Or51af1

Ensembl Gene

ENSMUSG00000046396

Gene Name

olfactory receptor family 51 subfamily AF member 1

Synonyms

GA_x6K02T2PBJ9-6207735-6206776, Olfr609, MOR9-1

MMRRC Submission

045386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103141124-103142083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 103141796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 96 (C96W)

Ref Sequence

ENSEMBL: ENSMUSP00000149804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055787] [ENSMUST00000216075] [ENSMUST00000216360]

AlphaFold

E9Q4X7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055787
AA Change: C96W

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

SMART Domains

Protein: ENSMUSP00000051749
Gene: ENSMUSG00000046396
AA Change: C96W

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	308	1.4e-119	PFAM
Pfam:7TM_GPCR_Srsx	34	169	2.2e-10	PFAM
Pfam:7tm_1	40	291	3.6e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000216075
AA Change: C96W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216360
AA Change: C96W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	C	8: 88,312,805 (GRCm39)	S197R	probably damaging	Het
Abcc12	T	C	8: 87,287,486 (GRCm39)	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,327,418 (GRCm39)	I67V	probably benign	Het
Alpk1	A	T	3: 127,518,115 (GRCm39)	V62E	probably damaging	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Ccr5	A	T	9: 123,925,311 (GRCm39)	K305*	probably null	Het
Cdc42bpb	T	C	12: 111,292,518 (GRCm39)	H339R	probably damaging	Het
Cdhr18	A	T	14: 13,899,648 (GRCm38)	F91L		Het
Cep290	T	G	10: 100,334,970 (GRCm39)	M330R	probably benign	Het
Cyfip2	T	C	11: 46,115,004 (GRCm39)	Y901C	probably benign	Het
Ddx54	T	G	5: 120,758,812 (GRCm39)	Y352D	probably damaging	Het
Defa35	A	T	8: 21,555,245 (GRCm39)	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,525,519 (GRCm39)		probably null	Het
Enpep	A	C	3: 129,125,724 (GRCm39)	L136R	probably benign	Het
Epb41l2	G	A	10: 25,360,185 (GRCm39)	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,305,764 (GRCm39)	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974 (GRCm39)	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,212,542 (GRCm39)	L410H	probably damaging	Het
Gipc2	T	C	3: 151,871,352 (GRCm39)	E58G	probably damaging	Het
Gm6309	A	T	5: 146,105,106 (GRCm39)	V269E	probably benign	Het
Grm5	A	T	7: 87,723,914 (GRCm39)	T735S	probably damaging	Het
H6pd	T	C	4: 150,080,819 (GRCm39)	M9V	probably benign	Het
Hmcn1	A	G	1: 150,591,574 (GRCm39)	I1875T	probably benign	Het
Hrc	T	A	7: 44,985,720 (GRCm39)	D290E	possibly damaging	Het
Iftap	T	C	2: 101,440,937 (GRCm39)	D22G	probably null	Het
Ippk	C	A	13: 49,587,338 (GRCm39)	Q136K	probably benign	Het
Kcnv1	T	C	15: 44,972,711 (GRCm39)	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,548,759 (GRCm39)	E1088A	probably damaging	Het
L1td1	C	T	4: 98,625,101 (GRCm39)	A432V	probably benign	Het
Ly86	A	G	13: 37,529,473 (GRCm39)	D20G	probably benign	Het
Myo1g	A	G	11: 6,459,416 (GRCm39)	I818T	possibly damaging	Het
Nms	A	G	1: 38,986,051 (GRCm39)	T121A	probably benign	Het
Or1e31	T	G	11: 73,690,206 (GRCm39)	I126L	probably damaging	Het
Or1j4	T	A	2: 36,740,352 (GRCm39)	I98K	probably damaging	Het
Or6b3	A	T	1: 92,438,898 (GRCm39)	I284N	possibly damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8k37	T	A	2: 86,469,345 (GRCm39)	K236*	probably null	Het
Pcdhb9	T	C	18: 37,535,167 (GRCm39)	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,241,305 (GRCm39)	R95H	probably damaging	Het
Pde11a	T	C	2: 75,970,250 (GRCm39)	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,064,203 (GRCm39)	D446G	probably benign	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rasal2	A	T	1: 156,985,270 (GRCm39)	L826M	probably damaging	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sin3b	T	C	8: 73,476,836 (GRCm39)	C757R	probably benign	Het
Slc41a1	T	A	1: 131,769,780 (GRCm39)	V300D	probably benign	Het
Snorc	A	C	1: 87,402,789 (GRCm39)	I40L	probably benign	Het
Snrpa1	T	C	7: 65,719,891 (GRCm39)	F162L	probably damaging	Het
Sox30	C	A	11: 45,871,379 (GRCm39)	A78E	unknown	Het
Ssc4d	G	T	5: 135,991,941 (GRCm39)	A401E	probably damaging	Het
Steap3	A	G	1: 120,171,716 (GRCm39)	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,732,271 (GRCm39)		probably null	Het
Tgfbr2	A	T	9: 115,958,898 (GRCm39)	I172N	probably damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,419,272 (GRCm39)	S96P	probably damaging	Het
Trpa1	T	G	1: 14,973,473 (GRCm39)	T282P	probably damaging	Het
Uba5	A	T	9: 103,940,132 (GRCm39)	V5E	unknown	Het
Ugt2b36	A	T	5: 87,228,762 (GRCm39)	L427H	probably damaging	Het
Utp14b	T	A	1: 78,642,691 (GRCm39)	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,380,848 (GRCm39)	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,525,403 (GRCm39)	L354V	probably benign	Het
Wwc2	T	A	8: 48,296,034 (GRCm39)	N1079Y	unknown	Het
Zfp653	T	C	9: 21,977,116 (GRCm39)	D145G	probably benign	Het
Zfp777	T	C	6: 48,002,731 (GRCm39)	E453G	probably damaging	Het
Zfp936	T	A	7: 42,839,803 (GRCm39)	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,514,151 (GRCm39)	Y496N	possibly damaging	Het

Other mutations in Or51af1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02213:Or51af1	APN	7	103,141,695 (GRCm39)	missense	probably benign	0.05
IGL02309:Or51af1	APN	7	103,141,206 (GRCm39)	missense	probably damaging	0.99
R0782:Or51af1	UTSW	7	103,141,722 (GRCm39)	missense	probably damaging	0.99
R0988:Or51af1	UTSW	7	103,141,954 (GRCm39)	missense	probably damaging	1.00
R4013:Or51af1	UTSW	7	103,141,840 (GRCm39)	missense	probably benign
R4600:Or51af1	UTSW	7	103,141,788 (GRCm39)	missense	probably damaging	0.99
R4735:Or51af1	UTSW	7	103,141,267 (GRCm39)	missense	possibly damaging	0.61
R4941:Or51af1	UTSW	7	103,141,458 (GRCm39)	missense	probably damaging	1.00
R5204:Or51af1	UTSW	7	103,141,747 (GRCm39)	missense	probably damaging	1.00
R5281:Or51af1	UTSW	7	103,141,180 (GRCm39)	missense	probably benign	0.00
R5941:Or51af1	UTSW	7	103,141,927 (GRCm39)	missense	possibly damaging	0.95
R6319:Or51af1	UTSW	7	103,141,932 (GRCm39)	missense	possibly damaging	0.84
R6505:Or51af1	UTSW	7	103,141,858 (GRCm39)	missense	probably damaging	1.00
R8680:Or51af1	UTSW	7	103,142,029 (GRCm39)	missense	probably damaging	1.00
R8709:Or51af1	UTSW	7	103,141,519 (GRCm39)	missense	probably benign
R8994:Or51af1	UTSW	7	103,141,800 (GRCm39)	missense	probably benign	0.03
X0065:Or51af1	UTSW	7	103,141,125 (GRCm39)	makesense	probably null
Z1177:Or51af1	UTSW	7	103,141,817 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAGACCAATGCTTCGCAC -3'
(R):5'- AGACAGTGTATCTCTGGCTCTC -3'

Sequencing Primer
(F):5'- TGCTTCGCACCAAAATGACCATG -3'
(R):5'- GTGCACCATGTACATTGCC -3'

Posted On

2019-06-26