Mutagenetix > Incidental Mutation

Incidental Mutation 'R9626:Or5b97'

725187

Institutional Source

Beutler Lab

Gene Symbol

Or5b97

Ensembl Gene

ENSMUSG00000060303

Gene Name

olfactory receptor family 5 subfamily B member 97

Synonyms

MOR202-3, Olfr1447, GA_x6K02T2RE5P-3231251-3230331

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R9626 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12878213-12879142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12878600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 181 (D181E)

Ref Sequence

ENSEMBL: ENSMUSP00000149392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071484] [ENSMUST00000208343] [ENSMUST00000216989]

AlphaFold

Q8VFX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071484
AA Change: D181E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071419
Gene: ENSMUSG00000060303
AA Change: D181E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	5.3e-50	PFAM
Pfam:7TM_GPCR_Srsx	36	306	2.1e-7	PFAM
Pfam:7tm_1	42	291	7.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216989
AA Change: D181E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,127,502 (GRCm39)	N37I	unknown	Het
Abca9	T	A	11: 110,011,606 (GRCm39)	T1146S	probably benign	Het
Acnat2	G	A	4: 49,380,179 (GRCm39)	H400Y	probably damaging	Het
Adgrd1	T	C	5: 129,275,721 (GRCm39)	S768P	probably damaging	Het
Arap2	T	A	5: 62,906,878 (GRCm39)	H47L	probably benign	Het
Atxn1	T	A	13: 45,710,796 (GRCm39)	N712I	possibly damaging	Het
Bri3bp	T	A	5: 125,531,572 (GRCm39)	S173T	probably damaging	Het
Camta1	A	T	4: 151,168,287 (GRCm39)	S254R	probably damaging	Het
Card9	T	C	2: 26,247,294 (GRCm39)	E285G	probably benign	Het
Celf2	G	A	2: 6,590,835 (GRCm39)	A320V	probably benign	Het
Celsr3	T	C	9: 108,726,521 (GRCm39)	I3250T	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntrob	T	C	11: 69,202,167 (GRCm39)	H475R	possibly damaging	Het
Dcaf6	G	A	1: 165,227,264 (GRCm39)	R288*	probably null	Het
Ebna1bp2	G	A	4: 118,478,371 (GRCm39)		probably benign	Het
Erich3	A	T	3: 154,444,730 (GRCm39)	D302V	probably benign	Het
Fbxo48	T	A	11: 16,904,333 (GRCm39)	*162K	probably null	Het
Fyttd1	T	C	16: 32,725,915 (GRCm39)	L290S	probably damaging	Het
Gcc1	T	C	6: 28,418,917 (GRCm39)	D472G	probably damaging	Het
Gjb4	C	T	4: 127,246,081 (GRCm39)		probably benign	Het
Gm5157	G	T	7: 20,919,396 (GRCm39)	T49K	probably damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Hnrnpm	G	T	17: 33,896,264 (GRCm39)	D88E	probably damaging	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hunk	C	T	16: 90,272,791 (GRCm39)	T365M	probably damaging	Het
Lamb1	A	G	12: 31,354,669 (GRCm39)	D972G	probably benign	Het
Mamdc4	A	G	2: 25,458,273 (GRCm39)	L379P	probably damaging	Het
Mcrs1	A	G	15: 99,146,353 (GRCm39)	L179P	probably damaging	Het
Mterf2	C	T	10: 84,956,295 (GRCm39)	A110T	probably benign	Het
Mucl1	A	G	15: 103,783,934 (GRCm39)	S91P	possibly damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ndst4	A	C	3: 125,476,829 (GRCm39)	D18A	probably damaging	Het
Ndufv1	A	T	19: 4,058,064 (GRCm39)	C382*	probably null	Het
Npc1l1	T	C	11: 6,177,854 (GRCm39)	K519E	probably benign	Het
Nphs1	A	G	7: 30,166,991 (GRCm39)	K747E	probably benign	Het
Nubp2	C	G	17: 25,103,374 (GRCm39)		probably null	Het
Odad2	G	T	18: 7,211,422 (GRCm39)	C817*	probably null	Het
Or13a19	T	C	7: 139,903,236 (GRCm39)	V208A	probably benign	Het
Or7a36	T	G	10: 78,820,213 (GRCm39)	D196E	probably benign	Het
Or7a40	A	G	16: 16,491,491 (GRCm39)	M118T	probably damaging	Het
Or8b48	A	G	9: 38,492,977 (GRCm39)	T135A	probably benign	Het
Pcdhac2	T	G	18: 37,279,555 (GRCm39)	L845R	probably damaging	Het
Pcdhb14	A	C	18: 37,581,787 (GRCm39)	T298P	probably damaging	Het
Phldb2	A	T	16: 45,592,547 (GRCm39)	L957Q	possibly damaging	Het
Pole	A	G	5: 110,459,959 (GRCm39)	D1121G	possibly damaging	Het
Ppp1r3g	C	A	13: 36,153,612 (GRCm39)	T344K	probably benign	Het
Prpf8	A	G	11: 75,385,681 (GRCm39)	K954R	possibly damaging	Het
Prr15l	C	A	11: 96,825,440 (GRCm39)	Y23*	probably null	Het
Sap18b	A	G	8: 96,552,098 (GRCm39)	E36G	possibly damaging	Het
Slc46a2	A	T	4: 59,914,241 (GRCm39)	F227L	probably benign	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spmip4	T	A	6: 50,550,930 (GRCm39)	K506N		Het
Ssc5d	C	A	7: 4,946,568 (GRCm39)	T974K	probably benign	Het
Tenm4	C	A	7: 96,545,345 (GRCm39)	R2491S	probably damaging	Het
Tex2	T	C	11: 106,437,579 (GRCm39)	E697G	unknown	Het
Tmem44	A	T	16: 30,366,226 (GRCm39)	F67I	possibly damaging	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Ttc39a	A	G	4: 109,278,570 (GRCm39)	D77G	possibly damaging	Het
Ttc9	A	G	12: 81,710,301 (GRCm39)	I198V	probably benign	Het
Ttn	C	T	2: 76,661,550 (GRCm39)	V11942M	unknown	Het
Uqcrc2	T	A	7: 120,237,118 (GRCm39)	Y55*	probably null	Het
Vmn1r160	A	T	7: 22,571,273 (GRCm39)	M209L	probably benign	Het
Vmn2r50	A	T	7: 9,771,960 (GRCm39)	C580*	probably null	Het
Vmn2r96	A	G	17: 18,793,758 (GRCm39)	E34G	probably benign	Het
Zmynd8	C	T	2: 165,654,268 (GRCm39)		probably null	Het

Other mutations in Or5b97

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Or5b97	APN	19	12,878,719 (GRCm39)	missense	probably benign	0.40
IGL01704:Or5b97	APN	19	12,879,103 (GRCm39)	missense	probably benign	0.01
IGL01767:Or5b97	APN	19	12,879,112 (GRCm39)	missense	probably benign	0.12
IGL01969:Or5b97	APN	19	12,878,416 (GRCm39)	missense	possibly damaging	0.69
IGL02435:Or5b97	APN	19	12,878,391 (GRCm39)	missense	probably damaging	1.00
IGL02666:Or5b97	APN	19	12,878,221 (GRCm39)	missense	probably benign
IGL03034:Or5b97	APN	19	12,879,121 (GRCm39)	missense	possibly damaging	0.94
IGL03221:Or5b97	APN	19	12,878,905 (GRCm39)	missense	probably damaging	1.00
R0315:Or5b97	UTSW	19	12,878,598 (GRCm39)	missense	possibly damaging	0.66
R0550:Or5b97	UTSW	19	12,879,164 (GRCm39)	splice site	probably null
R0729:Or5b97	UTSW	19	12,878,259 (GRCm39)	missense	probably damaging	0.97
R1381:Or5b97	UTSW	19	12,878,320 (GRCm39)	missense	probably benign	0.00
R1669:Or5b97	UTSW	19	12,878,652 (GRCm39)	missense	possibly damaging	0.79
R1775:Or5b97	UTSW	19	12,878,599 (GRCm39)	missense	probably benign	0.02
R1918:Or5b97	UTSW	19	12,878,215 (GRCm39)	makesense	probably null
R2377:Or5b97	UTSW	19	12,878,217 (GRCm39)	missense	possibly damaging	0.45
R2406:Or5b97	UTSW	19	12,878,991 (GRCm39)	missense	probably benign	0.11
R2471:Or5b97	UTSW	19	12,878,679 (GRCm39)	missense	probably benign	0.00
R2484:Or5b97	UTSW	19	12,879,005 (GRCm39)	missense	probably benign	0.06
R2656:Or5b97	UTSW	19	12,879,030 (GRCm39)	missense	probably benign	0.37
R3888:Or5b97	UTSW	19	12,878,497 (GRCm39)	missense	probably benign	0.00
R4250:Or5b97	UTSW	19	12,878,368 (GRCm39)	missense	probably benign	0.09
R4545:Or5b97	UTSW	19	12,878,632 (GRCm39)	nonsense	probably null
R4895:Or5b97	UTSW	19	12,878,251 (GRCm39)	missense	probably damaging	1.00
R4956:Or5b97	UTSW	19	12,878,963 (GRCm39)	missense	probably damaging	0.99
R4991:Or5b97	UTSW	19	12,878,815 (GRCm39)	missense	probably damaging	0.98
R5044:Or5b97	UTSW	19	12,878,365 (GRCm39)	missense	probably damaging	1.00
R5165:Or5b97	UTSW	19	12,878,564 (GRCm39)	missense	probably benign	0.00
R6025:Or5b97	UTSW	19	12,879,034 (GRCm39)	missense	probably benign	0.10
R6135:Or5b97	UTSW	19	12,878,803 (GRCm39)	missense	probably damaging	0.97
R6459:Or5b97	UTSW	19	12,878,369 (GRCm39)	missense	possibly damaging	0.94
R6733:Or5b97	UTSW	19	12,878,605 (GRCm39)	missense	probably damaging	1.00
R6789:Or5b97	UTSW	19	12,878,653 (GRCm39)	missense	probably benign	0.21
R6923:Or5b97	UTSW	19	12,878,676 (GRCm39)	missense	probably benign	0.04
R7310:Or5b97	UTSW	19	12,878,637 (GRCm39)	missense	probably damaging	1.00
R8552:Or5b97	UTSW	19	12,879,096 (GRCm39)	missense	probably damaging	0.98
R8699:Or5b97	UTSW	19	12,878,828 (GRCm39)	missense	possibly damaging	0.59
R8735:Or5b97	UTSW	19	12,878,274 (GRCm39)	missense	possibly damaging	0.85
R8955:Or5b97	UTSW	19	12,878,578 (GRCm39)	missense	probably benign	0.01
R9631:Or5b97	UTSW	19	12,878,502 (GRCm39)	missense	possibly damaging	0.69
R9694:Or5b97	UTSW	19	12,879,021 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGGCACAGGTGGATATAGCC -3'
(R):5'- CTGTGGAGAACTATCTGTTGGC -3'

Sequencing Primer
(F):5'- ATATAGCCTTGTGATGTCCTGAAGC -3'
(R):5'- CAATGGCCTATGATCGCTATGCAG -3'

Posted On

2022-09-12