Incidental Mutation 'R4395:Or5p51'
| ID |
325440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p51
|
| Ensembl Gene |
ENSMUSG00000109542 |
| Gene Name |
olfactory receptor family 5 subfamily P member 51 |
| Synonyms |
MOR204-22, Olfr470, GA_x6K02T2PBJ9-10175273-10174329 |
| MMRRC Submission |
041684-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4395 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107443994-107444938 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107444469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 157
(L157P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073059]
[ENSMUST00000220193]
|
| AlphaFold |
Q8VF65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073059
AA Change: L157P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072810
Gene: ENSMUSG00000109542
AA Change: L157P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2e-56 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084757
AA Change: L157P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081812
Gene: ENSMUSG00000094289
AA Change: L157P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2.5e-51 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219309
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220193
AA Change: L157P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,679 (GRCm39) |
Y283H |
probably benign |
Het |
| Adamtsl5 |
A |
G |
10: 80,180,736 (GRCm39) |
C109R |
probably damaging |
Het |
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,744,703 (GRCm39) |
S1266F |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,473,457 (GRCm39) |
L1614P |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,376,527 (GRCm39) |
R2038G |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Capza2 |
T |
C |
6: 17,656,449 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
C |
19: 47,740,352 (GRCm39) |
T1274A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,212 (GRCm39) |
Y115C |
probably damaging |
Het |
| Crebl2 |
A |
G |
6: 134,826,208 (GRCm39) |
E53G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,525,671 (GRCm39) |
S107P |
probably damaging |
Het |
| Fam3b |
C |
A |
16: 97,282,986 (GRCm39) |
|
probably null |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,431 (GRCm39) |
I488F |
probably damaging |
Het |
| Hmga2 |
C |
T |
10: 120,311,956 (GRCm39) |
G5S |
probably damaging |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
G |
T |
19: 34,589,951 (GRCm39) |
E376* |
probably null |
Het |
| Ints5 |
A |
G |
19: 8,873,808 (GRCm39) |
E589G |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,066,323 (GRCm39) |
Y101C |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,236,357 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,717,321 (GRCm39) |
K185N |
possibly damaging |
Het |
| Mtcl3 |
T |
C |
10: 29,023,351 (GRCm39) |
S233P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,432 (GRCm39) |
Q75L |
probably benign |
Het |
| Nod2 |
T |
A |
8: 89,391,019 (GRCm39) |
F427Y |
probably damaging |
Het |
| Or1s2 |
A |
T |
19: 13,758,275 (GRCm39) |
I100F |
probably benign |
Het |
| Pik3cg |
T |
C |
12: 32,254,091 (GRCm39) |
D632G |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,468,326 (GRCm39) |
D298G |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,131 (GRCm39) |
T375A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,765,665 (GRCm38) |
T549I |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,657,844 (GRCm39) |
I565V |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,274 (GRCm39) |
I47T |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,915,451 (GRCm39) |
V2028I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,495,302 (GRCm39) |
H142Q |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpm2 |
T |
C |
10: 77,765,053 (GRCm39) |
I983V |
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,783 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ubxn11 |
G |
T |
4: 133,843,431 (GRCm39) |
E171D |
possibly damaging |
Het |
|
| Other mutations in Or5p51 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02034:Or5p51
|
APN |
7 |
107,444,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02349:Or5p51
|
APN |
7 |
107,444,812 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02365:Or5p51
|
APN |
7 |
107,444,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Or5p51
|
UTSW |
7 |
107,444,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0540:Or5p51
|
UTSW |
7 |
107,444,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0607:Or5p51
|
UTSW |
7 |
107,444,776 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0624:Or5p51
|
UTSW |
7 |
107,444,323 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1983:Or5p51
|
UTSW |
7 |
107,444,619 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2420:Or5p51
|
UTSW |
7 |
107,444,025 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2441:Or5p51
|
UTSW |
7 |
107,444,185 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4734:Or5p51
|
UTSW |
7 |
107,444,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4779:Or5p51
|
UTSW |
7 |
107,444,755 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5874:Or5p51
|
UTSW |
7 |
107,444,377 (GRCm39) |
missense |
probably benign |
|
|
R6598:Or5p51
|
UTSW |
7 |
107,444,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6807:Or5p51
|
UTSW |
7 |
107,444,797 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6820:Or5p51
|
UTSW |
7 |
107,444,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7305:Or5p51
|
UTSW |
7 |
107,444,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Or5p51
|
UTSW |
7 |
107,444,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Or5p51
|
UTSW |
7 |
107,444,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8215:Or5p51
|
UTSW |
7 |
107,444,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8255:Or5p51
|
UTSW |
7 |
107,444,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8384:Or5p51
|
UTSW |
7 |
107,444,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTATGACAGACACTGTGAC -3'
(R):5'- AAATGCTTGCCAACTTCCTG -3'
Sequencing Primer
(F):5'- CACTGTGACTATAATGACAAAGGC -3'
(R):5'- AAGCACAATCTCCTACCTTGGGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation