Incidental Mutation 'R6170:Cdcp3'
ID |
501902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp3
|
Ensembl Gene |
ENSMUSG00000006204 |
Gene Name |
CUB domain containing protein 3 |
Synonyms |
5430419D17Rik |
MMRRC Submission |
044431-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to T
at 130776216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050586]
[ENSMUST00000124096]
[ENSMUST00000208921]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000050586
|
SMART Domains |
Protein: ENSMUSP00000061529 Gene: ENSMUSG00000006204
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
85 |
105 |
N/A |
INTRINSIC |
SR
|
144 |
244 |
3.3e-57 |
SMART |
CUB
|
272 |
378 |
1.2e-16 |
SMART |
SR
|
428 |
528 |
3.9e-56 |
SMART |
low complexity region
|
533 |
548 |
N/A |
INTRINSIC |
CUB
|
556 |
667 |
5.1e-38 |
SMART |
SR
|
680 |
780 |
1.5e-57 |
SMART |
Pfam:CUB
|
795 |
840 |
3.1e-9 |
PFAM |
|
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 |
probably null
Transcript: ENSMUST00000208921
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
96% (68/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
A |
6: 72,325,555 (GRCm39) |
S90R |
probably benign |
Het |
4930523C07Rik |
C |
A |
1: 159,902,743 (GRCm39) |
N4K |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,528,645 (GRCm39) |
S1167P |
probably damaging |
Het |
Akr1e1 |
T |
C |
13: 4,652,723 (GRCm39) |
D94G |
possibly damaging |
Het |
Anln |
T |
C |
9: 22,279,793 (GRCm39) |
N466D |
probably benign |
Het |
Atp9b |
T |
A |
18: 80,920,562 (GRCm39) |
I231L |
probably benign |
Het |
Bpifb3 |
T |
A |
2: 153,761,557 (GRCm39) |
M2K |
unknown |
Het |
Btbd3 |
T |
C |
2: 138,120,862 (GRCm39) |
L12P |
probably damaging |
Het |
Btnl6 |
T |
A |
17: 34,734,480 (GRCm39) |
Y94F |
probably damaging |
Het |
Cab39 |
T |
A |
1: 85,746,176 (GRCm39) |
L19* |
probably null |
Het |
Cacna2d2 |
A |
G |
9: 107,404,533 (GRCm39) |
D1114G |
probably damaging |
Het |
Cdh11 |
A |
G |
8: 103,361,442 (GRCm39) |
V632A |
probably benign |
Het |
Cemip |
T |
G |
7: 83,596,438 (GRCm39) |
T1109P |
possibly damaging |
Het |
Col7a1 |
C |
A |
9: 108,795,511 (GRCm39) |
P1522Q |
unknown |
Het |
Colgalt1 |
C |
T |
8: 72,074,514 (GRCm39) |
L409F |
probably damaging |
Het |
Crtc2 |
A |
G |
3: 90,166,907 (GRCm39) |
M125V |
probably benign |
Het |
Cyp2b19 |
T |
G |
7: 26,458,519 (GRCm39) |
M78R |
possibly damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,643 (GRCm39) |
D308A |
possibly damaging |
Het |
D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
Ddah1 |
A |
G |
3: 145,597,261 (GRCm39) |
D166G |
probably benign |
Het |
Dmtn |
T |
C |
14: 70,854,795 (GRCm39) |
D60G |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,469,043 (GRCm39) |
D607V |
probably damaging |
Het |
Ebf1 |
T |
A |
11: 44,774,712 (GRCm39) |
N236K |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,093,689 (GRCm39) |
T600A |
probably benign |
Het |
Fbxo33 |
T |
C |
12: 59,251,435 (GRCm39) |
N360S |
probably benign |
Het |
Fbxw5 |
A |
G |
2: 25,393,615 (GRCm39) |
D72G |
possibly damaging |
Het |
Fhad1 |
T |
A |
4: 141,618,263 (GRCm39) |
K1388* |
probably null |
Het |
Fzd7 |
A |
G |
1: 59,523,004 (GRCm39) |
M296V |
probably benign |
Het |
Gdpd3 |
T |
C |
7: 126,370,336 (GRCm39) |
I257T |
probably benign |
Het |
Glt28d2 |
T |
G |
3: 85,779,248 (GRCm39) |
D75A |
possibly damaging |
Het |
Gm14295 |
G |
A |
2: 176,502,937 (GRCm39) |
|
probably benign |
Het |
Gm28729 |
A |
G |
9: 96,401,494 (GRCm39) |
I98T |
probably damaging |
Het |
Gm4924 |
C |
T |
10: 82,213,065 (GRCm39) |
Q288* |
probably null |
Het |
Gpr150 |
T |
C |
13: 76,204,676 (GRCm39) |
M90V |
probably damaging |
Het |
Ireb2 |
G |
A |
9: 54,794,656 (GRCm39) |
V331I |
probably benign |
Het |
Lpcat2b |
A |
T |
5: 107,581,760 (GRCm39) |
Y363F |
probably benign |
Het |
Me2 |
T |
C |
18: 73,918,852 (GRCm39) |
I410V |
probably benign |
Het |
Naxe |
T |
C |
3: 87,965,537 (GRCm39) |
E58G |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,523,671 (GRCm39) |
D603V |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,046,905 (GRCm39) |
Y1149F |
probably damaging |
Het |
Nrg1 |
A |
G |
8: 32,308,508 (GRCm39) |
Y503H |
probably damaging |
Het |
Nxpe4 |
C |
T |
9: 48,304,104 (GRCm39) |
P64S |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,349,811 (GRCm39) |
T219S |
unknown |
Het |
Plagl1 |
T |
C |
10: 13,002,975 (GRCm39) |
L81P |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,311,042 (GRCm39) |
V481A |
possibly damaging |
Het |
Polq |
A |
G |
16: 36,866,174 (GRCm39) |
Q457R |
possibly damaging |
Het |
Potefam1 |
A |
G |
2: 111,058,293 (GRCm39) |
Y167H |
probably benign |
Het |
Ppargc1a |
C |
A |
5: 51,631,253 (GRCm39) |
A459S |
probably damaging |
Het |
Ppp1r13l |
A |
G |
7: 19,104,362 (GRCm39) |
D253G |
probably benign |
Het |
Prl2c2 |
T |
A |
13: 13,176,757 (GRCm39) |
N55Y |
probably damaging |
Het |
Prlr |
T |
C |
15: 10,328,935 (GRCm39) |
F470S |
probably benign |
Het |
Serpina12 |
T |
C |
12: 104,004,500 (GRCm39) |
D44G |
probably benign |
Het |
Sfxn1 |
T |
G |
13: 54,260,526 (GRCm39) |
S291R |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,388,446 (GRCm39) |
D224G |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,784,392 (GRCm39) |
F123S |
probably damaging |
Het |
Spata31f1a |
A |
G |
4: 42,849,345 (GRCm39) |
V937A |
probably benign |
Het |
Stox2 |
T |
A |
8: 47,645,055 (GRCm39) |
M802L |
probably benign |
Het |
Tmem150a |
G |
A |
6: 72,333,728 (GRCm39) |
R30H |
probably benign |
Het |
Tmem210 |
G |
A |
2: 25,178,776 (GRCm39) |
|
probably null |
Het |
Tor3a |
T |
C |
1: 156,484,143 (GRCm39) |
N269S |
possibly damaging |
Het |
Trp63 |
A |
C |
16: 25,703,603 (GRCm39) |
N423T |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,785,045 (GRCm39) |
I86V |
possibly damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,606,348 (GRCm39) |
I333V |
probably benign |
Het |
Vwa7 |
C |
A |
17: 35,240,186 (GRCm39) |
H385N |
possibly damaging |
Het |
Wdr1 |
T |
C |
5: 38,687,014 (GRCm39) |
|
probably null |
Het |
Wdr31 |
A |
G |
4: 62,381,661 (GRCm39) |
Y57H |
probably damaging |
Het |
Zbtb44 |
T |
A |
9: 30,964,678 (GRCm39) |
H29Q |
probably damaging |
Het |
Zfp532 |
T |
A |
18: 65,757,509 (GRCm39) |
S481T |
probably damaging |
Het |
Zfp955b |
G |
T |
17: 33,521,084 (GRCm39) |
R184S |
probably benign |
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 |
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 |
130,873,762 (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'- CTTGCCAATTCGAGCTGGAG -3'
(R):5'- TTGACTGATGCTTTGTTCACAG -3'
Sequencing Primer
(F):5'- TTCGAGCTGGAGAAGAGCATC -3'
(R):5'- GACTGATGCTTTGTTCACAGAAAAC -3'
|
Posted On |
2017-12-04 |