Incidental Mutation 'R3965:Or8b51'
| ID |
312307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b51
|
| Ensembl Gene |
ENSMUSG00000094701 |
| Gene Name |
olfactory receptor family 8 subfamily B member 51 |
| Synonyms |
Olfr916, MOR168-1, GA_x6K02T2PVTD-32360710-32359778 |
| MMRRC Submission |
040934-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.318)
|
| Stock # |
R3965 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38568754-38569686 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 38569023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 222
(L222F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149578
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081196]
[ENSMUST00000213714]
[ENSMUST00000214093]
[ENSMUST00000215291]
|
| AlphaFold |
Q8VG53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081196
AA Change: L222F
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079959
Gene: ENSMUSG00000094701
AA Change: L222F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-45 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213714
AA Change: L222F
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214093
AA Change: L222F
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215291
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Ccdc121 |
T |
A |
5: 31,645,335 (GRCm39) |
C363S |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Cfap74 |
T |
A |
4: 155,531,174 (GRCm39) |
M809K |
probably damaging |
Het |
| Clic6 |
T |
C |
16: 92,295,732 (GRCm39) |
S131P |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlec1 |
A |
G |
9: 118,957,649 (GRCm39) |
I878V |
probably benign |
Het |
| Elapor1 |
T |
C |
3: 108,365,765 (GRCm39) |
D998G |
probably damaging |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Ewsr1 |
T |
C |
11: 5,033,476 (GRCm39) |
Y232C |
unknown |
Het |
| Exoc2 |
G |
A |
13: 31,061,565 (GRCm39) |
S492L |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Grin2c |
G |
A |
11: 115,151,820 (GRCm39) |
R47W |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,557 (GRCm39) |
T1670A |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mia2 |
T |
A |
12: 59,223,158 (GRCm39) |
S489T |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,373,016 (GRCm39) |
C276* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,946,783 (GRCm39) |
F16L |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,864,108 (GRCm39) |
G233R |
probably damaging |
Het |
| Or5b123 |
T |
C |
19: 13,596,565 (GRCm39) |
L13P |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,801,018 (GRCm39) |
M388V |
possibly damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,143,317 (GRCm39) |
K155E |
probably benign |
Het |
| Rxra |
T |
A |
2: 27,642,318 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
G |
9: 113,925,260 (GRCm39) |
E381G |
possibly damaging |
Het |
| Svs5 |
T |
C |
2: 164,079,662 (GRCm39) |
T82A |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,584,175 (GRCm39) |
H413Q |
probably benign |
Het |
| Tg |
T |
A |
15: 66,556,039 (GRCm39) |
D910E |
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tpcn1 |
G |
T |
5: 120,694,640 (GRCm39) |
T143K |
probably damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,342 (GRCm39) |
|
probably benign |
Het |
| Trhr |
T |
A |
15: 44,061,095 (GRCm39) |
I205N |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,626,622 (GRCm39) |
C324Y |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Zfhx4 |
G |
T |
3: 5,468,907 (GRCm39) |
V3022F |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,763,141 (GRCm39) |
V347I |
probably benign |
Het |
|
| Other mutations in Or8b51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01965:Or8b51
|
APN |
9 |
38,568,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02313:Or8b51
|
APN |
9 |
38,569,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03221:Or8b51
|
APN |
9 |
38,569,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0479:Or8b51
|
UTSW |
9 |
38,569,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:Or8b51
|
UTSW |
9 |
38,569,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Or8b51
|
UTSW |
9 |
38,569,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1860:Or8b51
|
UTSW |
9 |
38,569,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3107:Or8b51
|
UTSW |
9 |
38,569,307 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3964:Or8b51
|
UTSW |
9 |
38,569,023 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4419:Or8b51
|
UTSW |
9 |
38,569,365 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5249:Or8b51
|
UTSW |
9 |
38,569,374 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5481:Or8b51
|
UTSW |
9 |
38,568,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6299:Or8b51
|
UTSW |
9 |
38,569,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6555:Or8b51
|
UTSW |
9 |
38,569,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6702:Or8b51
|
UTSW |
9 |
38,569,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6703:Or8b51
|
UTSW |
9 |
38,569,073 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6851:Or8b51
|
UTSW |
9 |
38,569,481 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6895:Or8b51
|
UTSW |
9 |
38,569,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8688:Or8b51
|
UTSW |
9 |
38,569,047 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8985:Or8b51
|
UTSW |
9 |
38,569,621 (GRCm39) |
nonsense |
probably null |
|
|
R9259:Or8b51
|
UTSW |
9 |
38,569,642 (GRCm39) |
splice site |
probably benign |
|
|
R9292:Or8b51
|
UTSW |
9 |
38,569,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9634:Or8b51
|
UTSW |
9 |
38,568,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9641:Or8b51
|
UTSW |
9 |
38,568,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9772:Or8b51
|
UTSW |
9 |
38,568,964 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCAAGCTGTAGAGTAGAGG -3'
(R):5'- GGCTCACACTGTTTGCATAATG -3'
Sequencing Primer
(F):5'- TCAAGCTGTAGAGTAGAGGATTCATC -3'
(R):5'- GAGACTGAACTTCTGTGATGCCAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation