Incidental Mutation 'R6343:Or5b12'
| ID |
514025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b12
|
| Ensembl Gene |
ENSMUSG00000048456 |
| Gene Name |
olfactory receptor family 5 subfamily B member 12 |
| Synonyms |
GA_x6K02T2RE5P-3249780-3248836, MOR202-5, Olfr1448 |
| MMRRC Submission |
044497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6343 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12896727-12897671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12896946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 242
(H242Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054737]
[ENSMUST00000213177]
[ENSMUST00000213713]
[ENSMUST00000216888]
|
| AlphaFold |
Q8VFX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054737
AA Change: H242Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: H242Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
3.2e-54 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213177
AA Change: H242Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213713
AA Change: H242Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216888
AA Change: H242Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
T |
11: 110,205,378 (GRCm39) |
L301Q |
probably damaging |
Het |
| Adgrl4 |
T |
C |
3: 151,223,443 (GRCm39) |
L632P |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,527,562 (GRCm39) |
I539N |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,164,306 (GRCm39) |
H314L |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Chrm5 |
G |
A |
2: 112,309,793 (GRCm39) |
A441V |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,426,819 (GRCm39) |
N1380K |
possibly damaging |
Het |
| Cspg4 |
T |
C |
9: 56,799,976 (GRCm39) |
V1580A |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,469,106 (GRCm39) |
L1099P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha5 |
A |
T |
5: 84,254,606 (GRCm39) |
H644Q |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,400,221 (GRCm39) |
I80T |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,388,721 (GRCm39) |
Y304N |
probably damaging |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,307,379 (GRCm39) |
Y252* |
probably null |
Het |
| Hivep1 |
G |
T |
13: 42,313,147 (GRCm39) |
G1796* |
probably null |
Het |
| Irf8 |
T |
C |
8: 121,480,446 (GRCm39) |
V228A |
probably damaging |
Het |
| Islr |
A |
C |
9: 58,064,379 (GRCm39) |
V376G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,359,894 (GRCm39) |
V230A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,684 (GRCm39) |
|
probably null |
Het |
| Lrp8 |
T |
C |
4: 107,726,353 (GRCm39) |
|
probably null |
Het |
| Lyzl4 |
A |
C |
9: 121,407,150 (GRCm39) |
S127A |
possibly damaging |
Het |
| Map4k1 |
T |
C |
7: 28,699,715 (GRCm39) |
V606A |
possibly damaging |
Het |
| Mau2 |
T |
A |
8: 70,484,173 (GRCm39) |
K138N |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,261,592 (GRCm39) |
L33P |
probably damaging |
Het |
| Mrpl28 |
T |
C |
17: 26,345,252 (GRCm39) |
V224A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,964 (GRCm39) |
D512G |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,303,925 (GRCm39) |
Q200L |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,843,957 (GRCm39) |
N89S |
possibly damaging |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
| Or52p2 |
A |
G |
7: 102,237,753 (GRCm39) |
C66R |
probably damaging |
Het |
| Or6c201 |
A |
T |
10: 128,969,535 (GRCm39) |
L34* |
probably null |
Het |
| Padi3 |
C |
T |
4: 140,530,819 (GRCm39) |
V68I |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,512,820 (GRCm39) |
M621K |
probably benign |
Het |
| Pigv |
C |
T |
4: 133,392,547 (GRCm39) |
V208M |
probably damaging |
Het |
| Ripk4 |
A |
G |
16: 97,564,726 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,310,124 (GRCm39) |
K285E |
probably benign |
Het |
| Serpina3k |
G |
C |
12: 104,311,562 (GRCm39) |
G380A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,365,426 (GRCm39) |
|
probably null |
Het |
| Srrd |
G |
C |
5: 112,487,866 (GRCm39) |
A104G |
probably benign |
Het |
| Tbp |
T |
A |
17: 15,721,351 (GRCm39) |
|
probably null |
Het |
| Tecrl |
G |
A |
5: 83,442,447 (GRCm39) |
H209Y |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,404,204 (GRCm39) |
L157P |
probably damaging |
Het |
| Tmprss13 |
A |
T |
9: 45,254,498 (GRCm39) |
T422S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 86,003,473 (GRCm39) |
H1103R |
probably benign |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,223,049 (GRCm39) |
Y699C |
probably damaging |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,563 (GRCm39) |
N138T |
possibly damaging |
Het |
|
| Other mutations in Or5b12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Or5b12
|
APN |
19 |
12,897,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Or5b12
|
APN |
19 |
12,896,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01901:Or5b12
|
APN |
19 |
12,896,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02055:Or5b12
|
APN |
19 |
12,896,930 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0152:Or5b12
|
UTSW |
19 |
12,897,472 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0311:Or5b12
|
UTSW |
19 |
12,897,460 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0349:Or5b12
|
UTSW |
19 |
12,897,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Or5b12
|
UTSW |
19 |
12,896,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2371:Or5b12
|
UTSW |
19 |
12,897,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3548:Or5b12
|
UTSW |
19 |
12,897,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4697:Or5b12
|
UTSW |
19 |
12,897,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5482:Or5b12
|
UTSW |
19 |
12,897,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5748:Or5b12
|
UTSW |
19 |
12,897,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Or5b12
|
UTSW |
19 |
12,897,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5795:Or5b12
|
UTSW |
19 |
12,897,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5952:Or5b12
|
UTSW |
19 |
12,897,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6228:Or5b12
|
UTSW |
19 |
12,897,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Or5b12
|
UTSW |
19 |
12,896,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6341:Or5b12
|
UTSW |
19 |
12,896,843 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6454:Or5b12
|
UTSW |
19 |
12,897,395 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7666:Or5b12
|
UTSW |
19 |
12,897,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7810:Or5b12
|
UTSW |
19 |
12,897,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7859:Or5b12
|
UTSW |
19 |
12,897,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Or5b12
|
UTSW |
19 |
12,896,911 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8518:Or5b12
|
UTSW |
19 |
12,896,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9011:Or5b12
|
UTSW |
19 |
12,897,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Or5b12
|
UTSW |
19 |
12,897,667 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9162:Or5b12
|
UTSW |
19 |
12,897,024 (GRCm39) |
nonsense |
probably null |
|
|
R9273:Or5b12
|
UTSW |
19 |
12,897,446 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9279:Or5b12
|
UTSW |
19 |
12,897,309 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTCTATGGGATGGTTAGCC -3'
(R):5'- ATCGTGCTCAGACACCTATATCAG -3'
Sequencing Primer
(F):5'- AGCAAATGAAGTTGTCTTATCACAG -3'
(R):5'- CAGACACCTATATCAGTGAGACTGTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation