Incidental Mutation 'IGL03226:Or10d5'
| ID |
414845 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10d5
|
| Ensembl Gene |
ENSMUSG00000043331 |
| Gene Name |
olfactory receptor family 10 subfamily D member 5 |
| Synonyms |
MOR224-2, GA_x6K02T2PVTD-33651220-33650288, Olfr975 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39861133-39862065 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3716 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 39861719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054067]
[ENSMUST00000169307]
[ENSMUST00000213171]
[ENSMUST00000216647]
[ENSMUST00000217630]
|
| AlphaFold |
Q8VG91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054067
AA Change: M116R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: M116R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
304 |
1.9e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
249 |
1.8e-7 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
3.6e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169307
|
| SMART Domains |
Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
43 |
318 |
1.5e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
47 |
271 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
53 |
300 |
2.8e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213171
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216647
AA Change: M116R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217630
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly damaging |
Het |
|
| Other mutations in Or10d5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01480:Or10d5
|
APN |
9 |
39,861,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01537:Or10d5
|
APN |
9 |
39,861,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01963:Or10d5
|
APN |
9 |
39,861,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02400:Or10d5
|
APN |
9 |
39,861,635 (GRCm39) |
missense |
probably benign |
|
|
IGL03115:Or10d5
|
APN |
9 |
39,862,040 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0088:Or10d5
|
UTSW |
9 |
39,861,671 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0212:Or10d5
|
UTSW |
9 |
39,861,236 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1668:Or10d5
|
UTSW |
9 |
39,861,465 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1878:Or10d5
|
UTSW |
9 |
39,862,053 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2225:Or10d5
|
UTSW |
9 |
39,861,833 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2291:Or10d5
|
UTSW |
9 |
39,861,630 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2420:Or10d5
|
UTSW |
9 |
39,861,824 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2421:Or10d5
|
UTSW |
9 |
39,861,824 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2422:Or10d5
|
UTSW |
9 |
39,861,824 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2425:Or10d5
|
UTSW |
9 |
39,861,137 (GRCm39) |
missense |
probably null |
0.25 |
|
R2918:Or10d5
|
UTSW |
9 |
39,861,660 (GRCm39) |
missense |
probably benign |
|
|
R4536:Or10d5
|
UTSW |
9 |
39,861,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Or10d5
|
UTSW |
9 |
39,861,165 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4831:Or10d5
|
UTSW |
9 |
39,861,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4921:Or10d5
|
UTSW |
9 |
39,861,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5113:Or10d5
|
UTSW |
9 |
39,861,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5141:Or10d5
|
UTSW |
9 |
39,861,170 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5195:Or10d5
|
UTSW |
9 |
39,861,975 (GRCm39) |
missense |
probably benign |
|
|
R5213:Or10d5
|
UTSW |
9 |
39,861,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5568:Or10d5
|
UTSW |
9 |
39,861,983 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6993:Or10d5
|
UTSW |
9 |
39,861,933 (GRCm39) |
missense |
probably benign |
|
|
R7080:Or10d5
|
UTSW |
9 |
39,861,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Or10d5
|
UTSW |
9 |
39,861,349 (GRCm39) |
nonsense |
probably null |
|
|
R8178:Or10d5
|
UTSW |
9 |
39,861,708 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8179:Or10d5
|
UTSW |
9 |
39,861,708 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8382:Or10d5
|
UTSW |
9 |
39,861,455 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8402:Or10d5
|
UTSW |
9 |
39,861,713 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8511:Or10d5
|
UTSW |
9 |
39,861,455 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8798:Or10d5
|
UTSW |
9 |
39,862,013 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9068:Or10d5
|
UTSW |
9 |
39,862,087 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation