Incidental Mutation 'R3413:Or51q1c'
| ID |
267807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51q1c
|
| Ensembl Gene |
ENSMUSG00000094063 |
| Gene Name |
olfactory receptor family 51 subfamily Q member 1C |
| Synonyms |
Olfr638, MOR5-1, GA_x6K02T2PBJ9-6737723-6738670 |
| MMRRC Submission |
040631-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
R3413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103652466-103653431 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103653039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 186
(M186V)
|
| 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: M192V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: M192V
| 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: M192V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215653
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218325
AA Change: M186V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2260 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (48/49) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,387 (GRCm39) |
|
probably benign |
Het |
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,012 (GRCm39) |
H535R |
probably damaging |
Het |
| Ccnb3 |
T |
A |
X: 6,874,040 (GRCm39) |
E846D |
probably benign |
Het |
| Cdca7 |
G |
A |
2: 72,315,631 (GRCm39) |
G365R |
probably damaging |
Het |
| Clvs2 |
T |
A |
10: 33,498,967 (GRCm39) |
|
probably benign |
Het |
| Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
| Ddx42 |
A |
G |
11: 106,138,636 (GRCm39) |
T812A |
probably benign |
Het |
| Dnaaf6 |
T |
A |
X: 139,006,770 (GRCm39) |
N216K |
possibly damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,689,864 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,451,026 (GRCm39) |
E451G |
probably damaging |
Het |
| Hs6st2 |
C |
T |
X: 50,770,332 (GRCm39) |
V50I |
possibly damaging |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Mmel1 |
T |
A |
4: 154,974,043 (GRCm39) |
V361D |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Nup210 |
G |
T |
6: 91,002,224 (GRCm39) |
Q755K |
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,587 (GRCm39) |
V219A |
probably benign |
Het |
| Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,457,631 (GRCm39) |
R3178C |
probably damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,785,775 (GRCm39) |
D327G |
probably benign |
Het |
| Tbc1d8b |
C |
T |
X: 138,614,140 (GRCm39) |
A391V |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,743,387 (GRCm39) |
E173G |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp92 |
C |
T |
X: 72,463,900 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
probably damaging |
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 |
|
IGL01901:Or51q1c
|
APN |
7 |
103,653,274 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGTCCTTTGACCGTTATG -3'
(R):5'- AACCAGAACAGCTAGCATGTG -3'
Sequencing Primer
(F):5'- TGACCGTTATGTGGCCATC -3'
(R):5'- CTAGCATGTGGGACAGACAGTTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation