Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Or5b109'

661021

Institutional Source

Beutler Lab

Gene Symbol

Or5b109

Ensembl Gene

ENSMUSG00000096365

Gene Name

olfactory receptor family 5 subfamily B member 109

Synonyms

Olfr1463, GA_x6K02T2RE5P-3560863-3561795, MOR202-29P

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8560 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13211616-13212548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13211656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 14 (L14P)

Ref Sequence

ENSEMBL: ENSMUSP00000146566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064102] [ENSMUST00000207246]

AlphaFold

Q7TQR3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064102
AA Change: L14P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070872
Gene: ENSMUSG00000096365
AA Change: L14P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	310	1e-51	PFAM
Pfam:7TM_GPCR_Srsx	36	306	3.2e-6	PFAM
Pfam:7tm_1	42	291	1.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207246
AA Change: L14P

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (62/63)

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
Aak1	T	C	6: 86,958,374 (GRCm39)	V819A	unknown	Het
Ahi1	T	C	10: 20,835,814 (GRCm39)	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc87	C	T	19: 4,891,901 (GRCm39)	R798W	probably damaging	Het
Cd163	T	C	6: 124,294,360 (GRCm39)	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,543,130 (GRCm39)	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,576,689 (GRCm39)	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,984,249 (GRCm39)	H339Q	probably damaging	Het
Cybc1	G	T	11: 121,115,041 (GRCm39)	A154D	probably damaging	Het
D630045J12Rik	T	A	6: 38,126,649 (GRCm39)	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,603,144 (GRCm39)	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,533,898 (GRCm39)		probably null	Het
Depdc1a	A	G	3: 159,219,912 (GRCm39)	K139E	probably damaging	Het
Dock6	T	C	9: 21,714,132 (GRCm39)	K1874R	probably benign	Het
Dst	A	G	1: 34,307,970 (GRCm39)	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,202,375 (GRCm39)	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,457,865 (GRCm39)	I242L	probably benign	Het
Foxo3	G	A	10: 42,151,278 (GRCm39)	T51M	possibly damaging	Het
Gcfc2	T	C	6: 81,900,863 (GRCm39)	V59A	possibly damaging	Het
Gm14410	C	A	2: 176,885,445 (GRCm39)	C273F	probably damaging	Het
Gucy1b1	G	T	3: 81,942,685 (GRCm39)	P486T	probably damaging	Het
Hydin	A	G	8: 111,265,106 (GRCm39)	N2763S	probably benign	Het
Ifna2	C	A	4: 88,601,502 (GRCm39)	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,115,651 (GRCm39)	N48D	probably benign	Het
Il17ra	C	A	6: 120,459,226 (GRCm39)	D792E	possibly damaging	Het
Kcnh5	G	T	12: 75,023,379 (GRCm39)	A563E	probably damaging	Het
Klra4	C	A	6: 130,042,235 (GRCm39)	V11L	probably benign	Het
Krt13	T	C	11: 100,009,676 (GRCm39)	E368G	possibly damaging	Het
Lrpprc	T	A	17: 85,047,495 (GRCm39)		probably benign	Het
Mal2	T	C	15: 54,461,826 (GRCm39)	I107T	probably benign	Het
Mc4r	T	C	18: 66,992,166 (GRCm39)	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830 (GRCm39)	V4022E	probably benign	Het
Med12l	A	G	3: 58,945,026 (GRCm39)	N84D	probably damaging	Het
Mx1	T	G	16: 97,253,987 (GRCm39)	T298P	probably damaging	Het
Myh7	T	C	14: 55,213,405 (GRCm39)	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,465,124 (GRCm39)	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,274,316 (GRCm39)	N242K	probably benign	Het
Nsun5	A	G	5: 135,404,743 (GRCm39)	T435A	probably benign	Het
Or14j4	C	T	17: 37,920,949 (GRCm39)	S231N	possibly damaging	Het
Or4q3	T	A	14: 50,583,794 (GRCm39)	D4V	probably benign	Het
Pcdhb17	C	T	18: 37,619,206 (GRCm39)	T332M	possibly damaging	Het
Pi4k2a	C	T	19: 42,089,151 (GRCm39)	Q171*	probably null	Het
Plb1	T	C	5: 32,460,023 (GRCm39)	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 25,071,063 (GRCm39)		probably benign	Het
Prlhr	A	G	19: 60,456,635 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,382,600 (GRCm39)	C435*	probably null	Het
Rnf183	T	A	4: 62,346,735 (GRCm39)	N21I	probably damaging	Het
Rnf41	T	A	10: 128,274,222 (GRCm39)	C291*	probably null	Het
Shd	T	C	17: 56,278,616 (GRCm39)	S60P	probably benign	Het
Slc16a5	A	G	11: 115,360,545 (GRCm39)	T243A	probably benign	Het
Slc33a1	A	T	3: 63,850,773 (GRCm39)	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,244,083 (GRCm39)	M682R	possibly damaging	Het
Sphk2	A	T	7: 45,361,514 (GRCm39)	N245K	probably damaging	Het
Stx7	T	C	10: 24,057,454 (GRCm39)	I160T	possibly damaging	Het
Thbs4	T	C	13: 92,891,608 (GRCm39)	I836V	probably damaging	Het
Tmc5	A	T	7: 118,268,514 (GRCm39)	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,729,303 (GRCm39)	W94R	probably damaging	Het
Trmt44	T	C	5: 35,715,295 (GRCm39)	I673V	probably benign	Het
Ttn	T	C	2: 76,571,615 (GRCm39)	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,336,260 (GRCm39)	G591R		Het
Zfp236	G	A	18: 82,664,340 (GRCm39)	R482W	probably damaging	Het
Zfp51	T	A	17: 21,685,635 (GRCm39)	M750K	probably benign	Het

Other mutations in Or5b109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Or5b109	APN	19	13,212,103 (GRCm39)	missense	probably benign	0.01
IGL02596:Or5b109	APN	19	13,211,763 (GRCm39)	missense	probably damaging	1.00
IGL03030:Or5b109	APN	19	13,212,418 (GRCm39)	missense	probably damaging	0.98
IGL03232:Or5b109	APN	19	13,212,341 (GRCm39)	nonsense	probably null
IGL03380:Or5b109	APN	19	13,212,365 (GRCm39)	missense	probably benign	0.00
PIT4382001:Or5b109	UTSW	19	13,212,259 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Or5b109	UTSW	19	13,212,216 (GRCm39)	missense	probably benign	0.00
R0652:Or5b109	UTSW	19	13,211,899 (GRCm39)	missense	possibly damaging	0.80
R0658:Or5b109	UTSW	19	13,212,424 (GRCm39)	missense	possibly damaging	0.94
R1181:Or5b109	UTSW	19	13,212,195 (GRCm39)	missense	probably benign	0.07
R1239:Or5b109	UTSW	19	13,212,040 (GRCm39)	missense	possibly damaging	0.80
R1316:Or5b109	UTSW	19	13,211,803 (GRCm39)	missense	probably damaging	1.00
R1465:Or5b109	UTSW	19	13,212,265 (GRCm39)	missense	possibly damaging	0.61
R1465:Or5b109	UTSW	19	13,212,265 (GRCm39)	missense	possibly damaging	0.61
R1900:Or5b109	UTSW	19	13,212,277 (GRCm39)	missense	possibly damaging	0.54
R1927:Or5b109	UTSW	19	13,212,393 (GRCm39)	missense	probably damaging	1.00
R2239:Or5b109	UTSW	19	13,212,085 (GRCm39)	missense	probably benign	0.00
R2380:Or5b109	UTSW	19	13,212,085 (GRCm39)	missense	probably benign	0.00
R3760:Or5b109	UTSW	19	13,212,250 (GRCm39)	missense	probably damaging	1.00
R3765:Or5b109	UTSW	19	13,211,795 (GRCm39)	missense	probably damaging	1.00
R3835:Or5b109	UTSW	19	13,212,103 (GRCm39)	missense	probably benign	0.18
R4690:Or5b109	UTSW	19	13,212,132 (GRCm39)	missense	possibly damaging	0.91
R4907:Or5b109	UTSW	19	13,212,157 (GRCm39)	missense	probably damaging	1.00
R5444:Or5b109	UTSW	19	13,212,322 (GRCm39)	missense	probably benign	0.28
R5465:Or5b109	UTSW	19	13,212,052 (GRCm39)	missense	probably benign	0.00
R6083:Or5b109	UTSW	19	13,211,889 (GRCm39)	missense	probably benign	0.01
R6259:Or5b109	UTSW	19	13,211,785 (GRCm39)	missense	probably damaging	0.98
R6324:Or5b109	UTSW	19	13,212,468 (GRCm39)	missense	possibly damaging	0.95
R6561:Or5b109	UTSW	19	13,212,394 (GRCm39)	missense	probably damaging	1.00
R6845:Or5b109	UTSW	19	13,211,997 (GRCm39)	missense	probably damaging	1.00
R7260:Or5b109	UTSW	19	13,212,388 (GRCm39)	missense	probably damaging	0.98
R7843:Or5b109	UTSW	19	13,211,901 (GRCm39)	missense	possibly damaging	0.48
R8719:Or5b109	UTSW	19	13,211,836 (GRCm39)	missense	probably damaging	0.97
R9207:Or5b109	UTSW	19	13,212,400 (GRCm39)	missense	possibly damaging	0.60
R9273:Or5b109	UTSW	19	13,212,268 (GRCm39)	missense	probably damaging	1.00
R9607:Or5b109	UTSW	19	13,211,953 (GRCm39)	missense
X0063:Or5b109	UTSW	19	13,211,999 (GRCm39)	missense	probably damaging	1.00
X0067:Or5b109	UTSW	19	13,212,061 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATCAGTGTCCAGGATGTTGTAGAG -3'
(R):5'- CAGCCATGACTTTTGGTGTG -3'

Sequencing Primer
(F):5'- CCAGGATGTTGTAGAGATTCTTTCC -3'
(R):5'- CAGCCATGACTTTTGGTGTGATAGC -3'

Posted On

2021-03-08