Incidental Mutation 'R5298:Cdcp2'
| ID |
405524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp2
|
| Ensembl Gene |
ENSMUSG00000047636 |
| Gene Name |
CUB domain containing protein 2 |
| Synonyms |
D030010E02Rik |
| MMRRC Submission |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106954088-106970322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106964182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
| 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: V344A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000061401
Gene: ENSMUSG00000047636
AA Change: V344A
| 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
AA Change: V344A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
probably damaging |
Het |
|
| Other mutations in Cdcp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Cdcp2
|
APN |
4 |
106,964,308 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATCCGTTGCCACTGGACC -3'
(R):5'- ATAAATGAGGGCCGTACTGG -3'
Sequencing Primer
(F):5'- TTGCCACTGGACCATCCG -3'
(R):5'- TCCAAGGTCCCCAGGGTAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation