Incidental Mutation 'IGL01149:Cdcp2'
| ID |
50989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdcp2
|
| Ensembl Gene |
ENSMUSG00000047636 |
| Gene Name |
CUB domain containing protein 2 |
| Synonyms |
D030010E02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
106954088-106970322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106964308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 386
(F386S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062495]
[ENSMUST00000221740]
|
| AlphaFold |
Q8BQH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062495
AA Change: F386S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061401
Gene: ENSMUSG00000047636
AA Change: F386S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
CUB
|
30 |
143 |
1.74e-42 |
SMART |
|
CUB
|
145 |
255 |
2.37e-35 |
SMART |
|
CUB
|
257 |
373 |
9.57e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221740
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,400,349 (GRCm39) |
D143G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,463,087 (GRCm39) |
H212R |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,446 (GRCm39) |
S224P |
probably damaging |
Het |
| Or4q3 |
G |
T |
14: 50,583,071 (GRCm39) |
A276E |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slc7a6 |
T |
C |
8: 106,906,232 (GRCm39) |
S155P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,264 (GRCm39) |
D324G |
probably null |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
probably damaging |
Het |
|
| Other mutations in Cdcp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02041:Cdcp2
|
APN |
4 |
106,964,386 (GRCm39) |
intron |
probably benign |
|
|
IGL03396:Cdcp2
|
APN |
4 |
106,964,369 (GRCm39) |
nonsense |
probably null |
|
|
R0128:Cdcp2
|
UTSW |
4 |
106,963,904 (GRCm39) |
splice site |
probably benign |
|
|
R0130:Cdcp2
|
UTSW |
4 |
106,963,904 (GRCm39) |
splice site |
probably benign |
|
|
R0519:Cdcp2
|
UTSW |
4 |
106,964,389 (GRCm39) |
intron |
probably benign |
|
|
R0543:Cdcp2
|
UTSW |
4 |
106,954,873 (GRCm39) |
splice site |
probably null |
|
|
R1376:Cdcp2
|
UTSW |
4 |
106,959,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1376:Cdcp2
|
UTSW |
4 |
106,959,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1606:Cdcp2
|
UTSW |
4 |
106,959,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Cdcp2
|
UTSW |
4 |
106,964,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1887:Cdcp2
|
UTSW |
4 |
106,959,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2944:Cdcp2
|
UTSW |
4 |
106,959,755 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4620:Cdcp2
|
UTSW |
4 |
106,963,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Cdcp2
|
UTSW |
4 |
106,963,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Cdcp2
|
UTSW |
4 |
106,964,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5646:Cdcp2
|
UTSW |
4 |
106,962,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Cdcp2
|
UTSW |
4 |
106,962,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Cdcp2
|
UTSW |
4 |
106,959,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Cdcp2
|
UTSW |
4 |
106,964,283 (GRCm39) |
missense |
probably benign |
|
|
R8114:Cdcp2
|
UTSW |
4 |
106,962,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8472:Cdcp2
|
UTSW |
4 |
106,959,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9291:Cdcp2
|
UTSW |
4 |
106,964,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9726:Cdcp2
|
UTSW |
4 |
106,959,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9801:Cdcp2
|
UTSW |
4 |
106,964,262 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2013-06-21 |
Incidental Mutation