Incidental Mutation 'IGL01901:Or51q1c'
| ID |
179512 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51q1c
|
| Ensembl Gene |
ENSMUSG00000094063 |
| Gene Name |
olfactory receptor family 51 subfamily Q member 1C |
| Synonyms |
Olfr638, MOR5-1, GA_x6K02T2PBJ9-6737723-6738670 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01901
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103652466-103653431 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103653274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 264
(H264R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000138055]
[ENSMUST00000209757]
[ENSMUST00000215653]
[ENSMUST00000218325]
|
| AlphaFold |
Q8VH20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098184
AA Change: H270R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: H270R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
318 |
2.6e-119 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
43 |
198 |
9.8e-10 |
PFAM |
|
Pfam:7tm_1
|
49 |
300 |
7.8e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209757
AA Change: H270R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215653
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218325
AA Change: H264R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
| Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
| Casc3 |
A |
G |
11: 98,713,947 (GRCm39) |
D393G |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
| Clnk |
T |
C |
5: 38,952,321 (GRCm39) |
N6S |
probably damaging |
Het |
| Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
| Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
| Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
| Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,492,169 (GRCm39) |
F358L |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
| Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
| Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
| Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
| Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
| Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
| Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
| Terf2ip |
A |
G |
8: 112,738,700 (GRCm39) |
N196S |
probably benign |
Het |
| Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,036,932 (GRCm39) |
H277R |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Ube3c |
T |
A |
5: 29,873,005 (GRCm39) |
V1015E |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Or51q1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Or51q1c
|
APN |
7 |
103,652,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Or51q1c
|
APN |
7 |
103,652,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Or51q1c
|
APN |
7 |
103,652,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Or51q1c
|
UTSW |
7 |
103,652,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Or51q1c
|
UTSW |
7 |
103,652,709 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0312:Or51q1c
|
UTSW |
7 |
103,653,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Or51q1c
|
UTSW |
7 |
103,652,446 (GRCm39) |
splice site |
probably null |
|
|
R0652:Or51q1c
|
UTSW |
7 |
103,652,446 (GRCm39) |
splice site |
probably null |
|
|
R1382:Or51q1c
|
UTSW |
7 |
103,652,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1700:Or51q1c
|
UTSW |
7 |
103,653,329 (GRCm39) |
nonsense |
probably null |
|
|
R1723:Or51q1c
|
UTSW |
7 |
103,652,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1745:Or51q1c
|
UTSW |
7 |
103,653,270 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1840:Or51q1c
|
UTSW |
7 |
103,653,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3408:Or51q1c
|
UTSW |
7 |
103,652,550 (GRCm39) |
nonsense |
probably null |
|
|
R3413:Or51q1c
|
UTSW |
7 |
103,653,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4441:Or51q1c
|
UTSW |
7 |
103,653,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Or51q1c
|
UTSW |
7 |
103,653,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5096:Or51q1c
|
UTSW |
7 |
103,652,667 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5851:Or51q1c
|
UTSW |
7 |
103,652,659 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6133:Or51q1c
|
UTSW |
7 |
103,652,532 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6529:Or51q1c
|
UTSW |
7 |
103,653,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6572:Or51q1c
|
UTSW |
7 |
103,648,391 (GRCm39) |
splice site |
probably null |
|
|
R6799:Or51q1c
|
UTSW |
7 |
103,648,006 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7267:Or51q1c
|
UTSW |
7 |
103,653,046 (GRCm39) |
missense |
probably benign |
|
|
R9140:Or51q1c
|
UTSW |
7 |
103,653,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Or51q1c
|
UTSW |
7 |
103,652,638 (GRCm39) |
missense |
probably benign |
|
|
X0063:Or51q1c
|
UTSW |
7 |
103,652,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation