Incidental Mutation 'R7354:Cdcp3'
| ID |
570806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdcp3
|
| Ensembl Gene |
ENSMUSG00000006204 |
| Gene Name |
CUB domain containing protein 3 |
| Synonyms |
5430419D17Rik |
| MMRRC Submission |
045440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 130873762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 1696
(C1696F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124096]
[ENSMUST00000208921]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208921
AA Change: C1696F
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (82/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago3 |
T |
A |
4: 126,311,099 (GRCm39) |
Q38L |
possibly damaging |
Het |
| Apon |
T |
A |
10: 128,090,607 (GRCm39) |
I95N |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,421,258 (GRCm39) |
P464Q |
unknown |
Het |
| Arid4b |
A |
G |
13: 14,339,455 (GRCm39) |
D503G |
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,505,637 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
T |
7: 126,048,028 (GRCm39) |
V594D |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,215 (GRCm39) |
F519L |
possibly damaging |
Het |
| Bora |
A |
G |
14: 99,284,794 (GRCm39) |
T15A |
probably damaging |
Het |
| Btbd7 |
A |
T |
12: 102,804,464 (GRCm39) |
M192K |
probably benign |
Het |
| Ccdc125 |
T |
G |
13: 100,814,382 (GRCm39) |
|
probably null |
Het |
| Cfap74 |
G |
T |
4: 155,549,804 (GRCm39) |
V146L |
unknown |
Het |
| Crisp1 |
G |
A |
17: 40,630,071 (GRCm39) |
|
probably benign |
Het |
| Ctbp1 |
A |
T |
5: 33,407,732 (GRCm39) |
H292Q |
possibly damaging |
Het |
| Defb5 |
T |
A |
8: 19,300,750 (GRCm39) |
M34K |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,146,249 (GRCm39) |
I93V |
probably benign |
Het |
| Dqx1 |
T |
A |
6: 83,037,957 (GRCm39) |
Y448* |
probably null |
Het |
| Dynap |
A |
T |
18: 70,374,371 (GRCm39) |
C52S |
possibly damaging |
Het |
| Ehd4 |
C |
A |
2: 119,932,613 (GRCm39) |
R271L |
probably damaging |
Het |
| Ercc2 |
T |
G |
7: 19,127,579 (GRCm39) |
I619S |
possibly damaging |
Het |
| Etf1 |
A |
G |
18: 35,039,040 (GRCm39) |
I409T |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,271,529 (GRCm39) |
D367G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,572,907 (GRCm39) |
D1447G |
unknown |
Het |
| Fbxw9 |
T |
C |
8: 85,788,825 (GRCm39) |
S192P |
probably damaging |
Het |
| Frzb |
A |
T |
2: 80,277,153 (GRCm39) |
L11Q |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,642,479 (GRCm39) |
S717P |
probably damaging |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
C |
T |
7: 115,683,146 (GRCm39) |
R145Q |
probably benign |
Het |
| Gpr12 |
A |
T |
5: 146,520,772 (GRCm39) |
V50D |
probably damaging |
Het |
| Hes1 |
T |
C |
16: 29,884,746 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,682,196 (GRCm39) |
C451* |
probably null |
Het |
| Iars1 |
T |
C |
13: 49,857,796 (GRCm39) |
V347A |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,903,770 (GRCm39) |
S323P |
possibly damaging |
Het |
| Itga6 |
G |
A |
2: 71,650,574 (GRCm39) |
A207T |
probably damaging |
Het |
| Lgi4 |
T |
A |
7: 30,760,047 (GRCm39) |
L81H |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,407,277 (GRCm39) |
E1888G |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 65,059,539 (GRCm39) |
T1142M |
probably damaging |
Het |
| Mdfic2 |
T |
A |
6: 98,215,242 (GRCm39) |
D127V |
probably damaging |
Het |
| Mgam |
A |
T |
6: 40,721,732 (GRCm39) |
Y350F |
probably damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,137 (GRCm39) |
D351G |
probably damaging |
Het |
| Mro |
A |
G |
18: 74,006,385 (GRCm39) |
T111A |
probably benign |
Het |
| Mtrr |
A |
T |
13: 68,714,326 (GRCm39) |
V471E |
probably damaging |
Het |
| Myh3 |
C |
A |
11: 66,987,708 (GRCm39) |
L1394I |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,078,319 (GRCm39) |
V492A |
probably benign |
Het |
| Nbeal2 |
A |
G |
9: 110,458,247 (GRCm39) |
F2115S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,072,376 (GRCm39) |
M489K |
possibly damaging |
Het |
| Or12j5 |
A |
C |
7: 140,084,099 (GRCm39) |
I91R |
probably damaging |
Het |
| Or14j7 |
A |
G |
17: 38,235,284 (GRCm39) |
I276V |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,266,201 (GRCm39) |
I212F |
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,079,031 (GRCm39) |
|
probably null |
Het |
| Or4k44 |
C |
T |
2: 111,367,909 (GRCm39) |
A242T |
possibly damaging |
Het |
| Orc2 |
A |
G |
1: 58,508,906 (GRCm39) |
S462P |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,706 (GRCm39) |
T155A |
probably benign |
Het |
| Pcdhb16 |
G |
A |
18: 37,611,177 (GRCm39) |
V46I |
possibly damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,311 (GRCm39) |
D336G |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,626,646 (GRCm39) |
R1297S |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,411,427 (GRCm39) |
M868T |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,049,928 (GRCm39) |
M531T |
possibly damaging |
Het |
| Poc5 |
T |
C |
13: 96,531,033 (GRCm39) |
V77A |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,819,027 (GRCm39) |
R180C |
probably damaging |
Het |
| Rho |
C |
A |
6: 115,912,464 (GRCm39) |
Y268* |
probably null |
Het |
| Riok1 |
A |
T |
13: 38,231,288 (GRCm39) |
H182L |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,398,548 (GRCm39) |
D273G |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,305,263 (GRCm39) |
Y213C |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,952,951 (GRCm39) |
Y181C |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,771,897 (GRCm39) |
H401Y |
probably benign |
Het |
| Slc5a5 |
C |
A |
8: 71,342,247 (GRCm39) |
R268L |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,316,051 (GRCm39) |
F576S |
possibly damaging |
Het |
| Slx4 |
T |
C |
16: 3,804,963 (GRCm39) |
E617G |
probably benign |
Het |
| Spata31d1e |
A |
T |
13: 59,889,648 (GRCm39) |
L724* |
probably null |
Het |
| Top1 |
T |
C |
2: 160,546,878 (GRCm39) |
I386T |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,911,859 (GRCm39) |
D41E |
probably damaging |
Het |
| Tsc22d4 |
G |
A |
5: 137,766,371 (GRCm39) |
R479Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,108,961 (GRCm39) |
T2191I |
possibly damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,043 (GRCm39) |
D771E |
probably damaging |
Het |
| Vmn2r82 |
A |
C |
10: 79,192,464 (GRCm39) |
M14L |
probably benign |
Het |
| Zc3h7a |
C |
T |
16: 10,966,378 (GRCm39) |
S583N |
probably damaging |
Het |
| Zfp518b |
G |
A |
5: 38,840,122 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,955,478 (GRCm39) |
W314R |
probably damaging |
Het |
|
| Other mutations in Cdcp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Cdcp3
|
APN |
7 |
130,839,823 (GRCm39) |
splice site |
probably null |
|
|
IGL00848:Cdcp3
|
APN |
7 |
130,848,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Cdcp3
|
APN |
7 |
130,844,836 (GRCm39) |
nonsense |
probably null |
|
|
IGL01286:Cdcp3
|
APN |
7 |
130,848,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01303:Cdcp3
|
APN |
7 |
130,796,060 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01585:Cdcp3
|
APN |
7 |
130,846,487 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01665:Cdcp3
|
APN |
7 |
130,848,386 (GRCm39) |
nonsense |
probably null |
|
|
IGL01953:Cdcp3
|
APN |
7 |
130,826,709 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02427:Cdcp3
|
APN |
7 |
130,846,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02508:Cdcp3
|
APN |
7 |
130,824,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02678:Cdcp3
|
APN |
7 |
130,830,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03092:Cdcp3
|
APN |
7 |
130,803,527 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03122:Cdcp3
|
APN |
7 |
130,798,243 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03343:Cdcp3
|
APN |
7 |
130,848,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Cdcp3
|
UTSW |
7 |
130,831,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0011:Cdcp3
|
UTSW |
7 |
130,831,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Cdcp3
|
UTSW |
7 |
130,796,032 (GRCm39) |
splice site |
probably null |
|
|
R0234:Cdcp3
|
UTSW |
7 |
130,796,032 (GRCm39) |
splice site |
probably null |
|
|
R0268:Cdcp3
|
UTSW |
7 |
130,839,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Cdcp3
|
UTSW |
7 |
130,841,268 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0973:Cdcp3
|
UTSW |
7 |
130,839,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Cdcp3
|
UTSW |
7 |
130,839,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Cdcp3
|
UTSW |
7 |
130,839,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Cdcp3
|
UTSW |
7 |
130,846,560 (GRCm39) |
nonsense |
probably null |
|
|
R1911:Cdcp3
|
UTSW |
7 |
130,839,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Cdcp3
|
UTSW |
7 |
130,844,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Cdcp3
|
UTSW |
7 |
130,783,693 (GRCm39) |
nonsense |
probably null |
|
|
R2221:Cdcp3
|
UTSW |
7 |
130,849,186 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2223:Cdcp3
|
UTSW |
7 |
130,849,186 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2254:Cdcp3
|
UTSW |
7 |
130,824,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Cdcp3
|
UTSW |
7 |
130,783,753 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2991:Cdcp3
|
UTSW |
7 |
130,848,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3439:Cdcp3
|
UTSW |
7 |
130,790,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4418:Cdcp3
|
UTSW |
7 |
130,849,194 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4916:Cdcp3
|
UTSW |
7 |
130,776,206 (GRCm39) |
splice site |
probably null |
|
|
R5488:Cdcp3
|
UTSW |
7 |
130,848,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Cdcp3
|
UTSW |
7 |
130,841,252 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5897:Cdcp3
|
UTSW |
7 |
130,798,280 (GRCm39) |
splice site |
probably null |
|
|
R5898:Cdcp3
|
UTSW |
7 |
130,843,696 (GRCm39) |
splice site |
probably null |
|
|
R5940:Cdcp3
|
UTSW |
7 |
130,839,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Cdcp3
|
UTSW |
7 |
130,776,216 (GRCm39) |
splice site |
probably null |
|
|
R6187:Cdcp3
|
UTSW |
7 |
130,872,328 (GRCm39) |
intron |
probably benign |
|
|
R6321:Cdcp3
|
UTSW |
7 |
130,858,735 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6409:Cdcp3
|
UTSW |
7 |
130,863,800 (GRCm39) |
intron |
probably benign |
|
|
R6432:Cdcp3
|
UTSW |
7 |
130,846,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6481:Cdcp3
|
UTSW |
7 |
130,858,530 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6750:Cdcp3
|
UTSW |
7 |
130,889,974 (GRCm39) |
intron |
probably benign |
|
|
R6783:Cdcp3
|
UTSW |
7 |
130,828,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6836:Cdcp3
|
UTSW |
7 |
130,798,233 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6925:Cdcp3
|
UTSW |
7 |
130,824,436 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6995:Cdcp3
|
UTSW |
7 |
130,824,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Cdcp3
|
UTSW |
7 |
130,837,641 (GRCm39) |
nonsense |
probably null |
|
|
R7205:Cdcp3
|
UTSW |
7 |
130,879,352 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7340:Cdcp3
|
UTSW |
7 |
130,879,344 (GRCm39) |
missense |
unknown |
|
|
R7354:Cdcp3
|
UTSW |
7 |
130,858,458 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7434:Cdcp3
|
UTSW |
7 |
130,881,212 (GRCm39) |
missense |
unknown |
|
|
R7485:Cdcp3
|
UTSW |
7 |
130,830,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7513:Cdcp3
|
UTSW |
7 |
130,873,800 (GRCm39) |
missense |
unknown |
|
|
R7562:Cdcp3
|
UTSW |
7 |
130,904,426 (GRCm39) |
missense |
unknown |
|
|
R7623:Cdcp3
|
UTSW |
7 |
130,879,295 (GRCm39) |
splice site |
probably null |
|
|
R7782:Cdcp3
|
UTSW |
7 |
130,904,466 (GRCm39) |
splice site |
probably null |
|
|
R7879:Cdcp3
|
UTSW |
7 |
130,844,871 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7935:Cdcp3
|
UTSW |
7 |
130,852,205 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7949:Cdcp3
|
UTSW |
7 |
130,895,324 (GRCm39) |
splice site |
probably null |
|
|
R7964:Cdcp3
|
UTSW |
7 |
130,899,963 (GRCm39) |
missense |
unknown |
|
|
R7980:Cdcp3
|
UTSW |
7 |
130,836,506 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8145:Cdcp3
|
UTSW |
7 |
130,898,045 (GRCm39) |
missense |
unknown |
|
|
R8673:Cdcp3
|
UTSW |
7 |
130,844,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8684:Cdcp3
|
UTSW |
7 |
130,837,688 (GRCm39) |
nonsense |
probably null |
|
|
R8721:Cdcp3
|
UTSW |
7 |
130,879,335 (GRCm39) |
missense |
unknown |
|
|
R8725:Cdcp3
|
UTSW |
7 |
130,875,485 (GRCm39) |
missense |
unknown |
|
|
R8727:Cdcp3
|
UTSW |
7 |
130,875,485 (GRCm39) |
missense |
unknown |
|
|
R8742:Cdcp3
|
UTSW |
7 |
130,783,741 (GRCm39) |
missense |
unknown |
|
|
R8807:Cdcp3
|
UTSW |
7 |
130,846,507 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8822:Cdcp3
|
UTSW |
7 |
130,843,706 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8861:Cdcp3
|
UTSW |
7 |
130,861,690 (GRCm39) |
nonsense |
probably null |
|
|
R8897:Cdcp3
|
UTSW |
7 |
130,867,566 (GRCm39) |
missense |
unknown |
|
|
R8900:Cdcp3
|
UTSW |
7 |
130,904,197 (GRCm39) |
intron |
probably benign |
|
|
R9214:Cdcp3
|
UTSW |
7 |
130,824,481 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9218:Cdcp3
|
UTSW |
7 |
130,863,728 (GRCm39) |
missense |
unknown |
|
|
R9311:Cdcp3
|
UTSW |
7 |
130,859,490 (GRCm39) |
missense |
unknown |
|
|
R9323:Cdcp3
|
UTSW |
7 |
130,828,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9384:Cdcp3
|
UTSW |
7 |
130,904,404 (GRCm39) |
missense |
unknown |
|
|
R9387:Cdcp3
|
UTSW |
7 |
130,863,620 (GRCm39) |
missense |
unknown |
|
|
R9417:Cdcp3
|
UTSW |
7 |
130,852,218 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9502:Cdcp3
|
UTSW |
7 |
130,836,815 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9603:Cdcp3
|
UTSW |
7 |
130,830,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9642:Cdcp3
|
UTSW |
7 |
130,848,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Cdcp3
|
UTSW |
7 |
130,848,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cdcp3
|
UTSW |
7 |
130,867,595 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAAAGCCCACCGTGCTG -3'
(R):5'- ATCAAGGATCGCTGATACCAG -3'
Sequencing Primer
(F):5'- TGCTCGAGACACTCCAGGAC -3'
(R):5'- TGATACCAGCAGCTAGTACCTGAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation