Incidental Mutation 'IGL01434:Cplane2'
| ID |
84264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cplane2
|
| Ensembl Gene |
ENSMUSG00000073733 |
| Gene Name |
ciliogenesis and planar polarity effector 2 |
| Synonyms |
Rsg1, b2b2827Clo, b2b2804Clo, 6330545A04Rik, LOC279260 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
140941249-140947425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140945964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 169
(V169A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097813]
|
| AlphaFold |
A2A825 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097813
AA Change: V169A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095422
Gene: ENSMUSG00000073733
AA Change: V169A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Roc
|
57 |
179 |
7.3e-9 |
PFAM |
|
Pfam:Ras
|
57 |
207 |
4.3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151475
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular defects including persistent truncus arteriosus and atrioventricular septal defects, as well as polydactyly and micrognathia. Eye defects, hypoplastic lungs and thymus, and tracheoesophageal anomalies may be also present. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Cplane2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0488:Cplane2
|
UTSW |
4 |
140,941,712 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0967:Cplane2
|
UTSW |
4 |
140,947,162 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1339:Cplane2
|
UTSW |
4 |
140,945,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Cplane2
|
UTSW |
4 |
140,945,523 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3826:Cplane2
|
UTSW |
4 |
140,945,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3828:Cplane2
|
UTSW |
4 |
140,945,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3829:Cplane2
|
UTSW |
4 |
140,945,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3830:Cplane2
|
UTSW |
4 |
140,945,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Cplane2
|
UTSW |
4 |
140,944,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5242:Cplane2
|
UTSW |
4 |
140,947,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5527:Cplane2
|
UTSW |
4 |
140,947,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Cplane2
|
UTSW |
4 |
140,947,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5677:Cplane2
|
UTSW |
4 |
140,947,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6049:Cplane2
|
UTSW |
4 |
140,945,473 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6543:Cplane2
|
UTSW |
4 |
140,944,599 (GRCm39) |
missense |
probably benign |
|
|
R7078:Cplane2
|
UTSW |
4 |
140,947,159 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7483:Cplane2
|
UTSW |
4 |
140,947,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Cplane2
|
UTSW |
4 |
140,947,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8169:Cplane2
|
UTSW |
4 |
140,945,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-11 |
Incidental Mutation