Incidental Mutation 'R3828:Cplane2'
| ID |
273837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cplane2
|
| Ensembl Gene |
ENSMUSG00000073733 |
| Gene Name |
ciliogenesis and planar polarity effector 2 |
| Synonyms |
Rsg1, b2b2827Clo, b2b2804Clo, 6330545A04Rik, LOC279260 |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.391)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140941249-140947425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140945900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 148
(R148C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097813]
|
| AlphaFold |
A2A825 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097813
AA Change: R148C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095422
Gene: ENSMUSG00000073733
AA Change: R148C
| 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
|
| Meta Mutation Damage Score |
0.3289 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rsph6a |
T |
C |
7: 18,791,539 (GRCm39) |
L236P |
probably damaging |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
Het |
|
| Other mutations in Cplane2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Cplane2
|
APN |
4 |
140,945,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTGAGAACTGTGTGC -3'
(R):5'- GCACTGGAACTCTGGTAGGATG -3'
Sequencing Primer
(F):5'- AGTTTCCCAGTCTGCGAAAG -3'
(R):5'- AACTCTGGTAGGATGTGGGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation