Incidental Mutation 'R4033:Smo'
| ID |
313580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smo
|
| Ensembl Gene |
ENSMUSG00000001761 |
| Gene Name |
smoothened, frizzled class receptor |
| Synonyms |
E130215L21Rik |
| MMRRC Submission |
040961-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4033 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29735502-29761364 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29759917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 672
(R672H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001812]
|
| AlphaFold |
P56726 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001812
AA Change: R672H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: R672H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
FRI
|
73 |
187 |
5.48e-49 |
SMART |
|
Frizzled
|
224 |
559 |
2.82e-148 |
SMART |
|
low complexity region
|
641 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
684 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1364 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
PHENOTYPE: Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
G |
8: 44,079,710 (GRCm39) |
M171I |
probably benign |
Het |
| Als2 |
G |
T |
1: 59,235,400 (GRCm39) |
S761R |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,533,412 (GRCm39) |
|
probably benign |
Het |
| Brf1 |
G |
A |
12: 112,943,352 (GRCm39) |
T166M |
probably damaging |
Het |
| Car9 |
T |
C |
4: 43,508,624 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cerk |
T |
G |
15: 86,039,228 (GRCm39) |
H221P |
possibly damaging |
Het |
| Cfap69 |
A |
T |
5: 5,654,389 (GRCm39) |
I458N |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,121,765 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,312 (GRCm39) |
N891S |
unknown |
Het |
| Dmxl1 |
A |
G |
18: 49,984,498 (GRCm39) |
T165A |
possibly damaging |
Het |
| Erich6b |
A |
T |
14: 75,896,207 (GRCm39) |
N31I |
probably benign |
Het |
| Fgf17 |
G |
T |
14: 70,878,966 (GRCm39) |
|
probably benign |
Het |
| Fhit |
A |
T |
14: 10,751,671 (GRCm38) |
|
probably benign |
Het |
| Fnip1 |
A |
T |
11: 54,393,297 (GRCm39) |
I578L |
probably benign |
Het |
| Gm17641 |
C |
T |
3: 68,777,146 (GRCm39) |
R36W |
probably damaging |
Het |
| Gprin2 |
A |
T |
14: 33,916,635 (GRCm39) |
D378E |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,300,735 (GRCm39) |
M1L |
probably benign |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Ifih1 |
G |
A |
2: 62,465,534 (GRCm39) |
S212L |
probably benign |
Het |
| Iqck |
T |
C |
7: 118,540,827 (GRCm39) |
I242T |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lsm14b |
A |
G |
2: 179,673,309 (GRCm39) |
K195E |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,357,172 (GRCm39) |
V326I |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,774,830 (GRCm39) |
N76K |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,837,401 (GRCm39) |
|
probably benign |
Het |
| Nop14 |
T |
C |
5: 34,807,861 (GRCm39) |
D367G |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 89,499,771 (GRCm39) |
C721R |
probably damaging |
Het |
| Or51e1 |
C |
T |
7: 102,358,697 (GRCm39) |
T77I |
probably damaging |
Het |
| Prr27 |
G |
T |
5: 87,991,164 (GRCm39) |
E259* |
probably null |
Het |
| Psmg3 |
G |
A |
5: 139,812,086 (GRCm39) |
P5S |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,053,224 (GRCm39) |
T1134A |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,159,668 (GRCm39) |
N120S |
probably damaging |
Het |
| Reg3b |
A |
T |
6: 78,350,192 (GRCm39) |
K157N |
possibly damaging |
Het |
| Rlf |
T |
G |
4: 121,004,540 (GRCm39) |
Q1480P |
probably damaging |
Het |
| Slc16a12 |
A |
T |
19: 34,652,567 (GRCm39) |
L193Q |
probably damaging |
Het |
| Smyd4 |
A |
G |
11: 75,240,580 (GRCm39) |
D25G |
probably benign |
Het |
| Sorbs2 |
C |
G |
8: 46,228,632 (GRCm39) |
D264E |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,585,767 (GRCm39) |
Q593K |
probably benign |
Het |
| Tdrd9 |
A |
T |
12: 111,958,973 (GRCm39) |
I136L |
possibly damaging |
Het |
| Tshz3 |
G |
A |
7: 36,470,009 (GRCm39) |
S666N |
possibly damaging |
Het |
| Ubn1 |
C |
T |
16: 4,882,475 (GRCm39) |
T69M |
probably damaging |
Het |
| Unk |
A |
T |
11: 115,944,353 (GRCm39) |
H368L |
probably benign |
Het |
| Zan |
A |
T |
5: 137,436,122 (GRCm39) |
L2051* |
probably null |
Het |
|
| Other mutations in Smo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00772:Smo
|
APN |
6 |
29,758,893 (GRCm39) |
nonsense |
probably null |
|
|
IGL01969:Smo
|
APN |
6 |
29,755,171 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02078:Smo
|
APN |
6 |
29,754,707 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02248:Smo
|
APN |
6 |
29,757,291 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02496:Smo
|
APN |
6 |
29,758,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03159:Smo
|
APN |
6 |
29,758,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
knobby
|
UTSW |
6 |
29,736,173 (GRCm39) |
missense |
probably benign |
|
|
R0548:Smo
|
UTSW |
6 |
29,759,585 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0606:Smo
|
UTSW |
6 |
29,753,603 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1164:Smo
|
UTSW |
6 |
29,754,718 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1438:Smo
|
UTSW |
6 |
29,755,482 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1900:Smo
|
UTSW |
6 |
29,736,055 (GRCm39) |
missense |
unknown |
|
|
R2022:Smo
|
UTSW |
6 |
29,754,715 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2023:Smo
|
UTSW |
6 |
29,754,715 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2129:Smo
|
UTSW |
6 |
29,757,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Smo
|
UTSW |
6 |
29,755,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4878:Smo
|
UTSW |
6 |
29,753,570 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4920:Smo
|
UTSW |
6 |
29,759,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Smo
|
UTSW |
6 |
29,736,077 (GRCm39) |
missense |
unknown |
|
|
R5350:Smo
|
UTSW |
6 |
29,754,466 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5554:Smo
|
UTSW |
6 |
29,736,123 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6409:Smo
|
UTSW |
6 |
29,736,113 (GRCm39) |
missense |
unknown |
|
|
R6440:Smo
|
UTSW |
6 |
29,756,813 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6707:Smo
|
UTSW |
6 |
29,736,173 (GRCm39) |
missense |
probably benign |
|
|
R6766:Smo
|
UTSW |
6 |
29,736,044 (GRCm39) |
missense |
unknown |
|
|
R7061:Smo
|
UTSW |
6 |
29,760,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7147:Smo
|
UTSW |
6 |
29,758,448 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7491:Smo
|
UTSW |
6 |
29,736,119 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7500:Smo
|
UTSW |
6 |
29,755,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7735:Smo
|
UTSW |
6 |
29,759,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8109:Smo
|
UTSW |
6 |
29,755,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8511:Smo
|
UTSW |
6 |
29,755,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGGAGATGCCAAGGCTTG -3'
(R):5'- TTGGAGACTAGAGTCCAGGCTC -3'
Sequencing Primer
(F):5'- CTTGGGAAGCCTGGAGGGAC -3'
(R):5'- TGTCGGCAGGACTCCCC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation