Incidental Mutation 'R6735:Or5m11b'
| ID |
530170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5m11b
|
| Ensembl Gene |
ENSMUSG00000059873 |
| Gene Name |
olfactory receptor family 5 subfamily M member 11B |
| Synonyms |
GA_x6K02T2Q125-47454152-47455126, Olfr1029, MOR198-1P |
| MMRRC Submission |
044853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85805557-85806617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 85805778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 64
(S64R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056849]
[ENSMUST00000082191]
[ENSMUST00000217244]
|
| AlphaFold |
A2ATE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056849
|
| SMART Domains |
Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
2.4e-58 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
3.2e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082191
AA Change: S64R
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080828
Gene: ENSMUSG00000059873
AA Change: S64R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4.2e-56 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.1e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217244
AA Change: S64R
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
| Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
| C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
| Enpp3 |
A |
G |
10: 24,683,351 (GRCm39) |
Y289H |
probably damaging |
Het |
| Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
| Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
| Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
| Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
| Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
| Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
| Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
| Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
| Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
| Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
| Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
probably benign |
Het |
|
| Other mutations in Or5m11b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02020:Or5m11b
|
APN |
2 |
85,805,579 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02126:Or5m11b
|
APN |
2 |
85,806,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02584:Or5m11b
|
APN |
2 |
85,806,219 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03410:Or5m11b
|
APN |
2 |
85,805,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Or5m11b
|
UTSW |
2 |
85,806,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Or5m11b
|
UTSW |
2 |
85,806,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Or5m11b
|
UTSW |
2 |
85,806,372 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1584:Or5m11b
|
UTSW |
2 |
85,806,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2925:Or5m11b
|
UTSW |
2 |
85,806,125 (GRCm39) |
nonsense |
probably null |
|
|
R2970:Or5m11b
|
UTSW |
2 |
85,806,454 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4571:Or5m11b
|
UTSW |
2 |
85,806,175 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5533:Or5m11b
|
UTSW |
2 |
85,805,797 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5654:Or5m11b
|
UTSW |
2 |
85,806,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5827:Or5m11b
|
UTSW |
2 |
85,805,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5967:Or5m11b
|
UTSW |
2 |
85,806,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6291:Or5m11b
|
UTSW |
2 |
85,805,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Or5m11b
|
UTSW |
2 |
85,805,700 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7053:Or5m11b
|
UTSW |
2 |
85,806,358 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7163:Or5m11b
|
UTSW |
2 |
85,805,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7358:Or5m11b
|
UTSW |
2 |
85,805,780 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8047:Or5m11b
|
UTSW |
2 |
85,806,271 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8271:Or5m11b
|
UTSW |
2 |
85,806,085 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8271:Or5m11b
|
UTSW |
2 |
85,805,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Or5m11b
|
UTSW |
2 |
85,806,358 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9100:Or5m11b
|
UTSW |
2 |
85,806,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9190:Or5m11b
|
UTSW |
2 |
85,805,884 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9646:Or5m11b
|
UTSW |
2 |
85,806,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACCCAGATCTCAGGAG -3'
(R):5'- TGCATATGGCCACATAGCG -3'
Sequencing Primer
(F):5'- TCTCAGGAGATGCCCCAC -3'
(R):5'- TATGGCCACATAGCGGTCATAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation