Incidental Mutation 'R8807:Cdcp3'
ID |
672140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdcp3
|
Ensembl Gene |
ENSMUSG00000006204 |
Gene Name |
CUB domain containing protein 3 |
Synonyms |
5430419D17Rik |
MMRRC Submission |
068643-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8807 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
130776131-130908180 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130846507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 644
(I644F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050586]
[ENSMUST00000124096]
[ENSMUST00000208921]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050586
AA Change: I644F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000061529 Gene: ENSMUSG00000006204 AA Change: I644F
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 damaging
Transcript: ENSMUST00000208921
AA Change: I760F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
T |
C |
5: 48,534,494 (GRCm39) |
I118T |
probably damaging |
Het |
Abca8a |
A |
T |
11: 109,974,252 (GRCm39) |
F227L |
probably benign |
Het |
Abcc6 |
A |
T |
7: 45,648,431 (GRCm39) |
I687N |
possibly damaging |
Het |
Akain1 |
T |
C |
17: 69,794,340 (GRCm39) |
*70Q |
probably null |
Het |
Allc |
C |
T |
12: 28,615,489 (GRCm39) |
G89S |
probably damaging |
Het |
Aoc1l3 |
T |
C |
6: 48,965,188 (GRCm39) |
F399L |
probably benign |
Het |
Artn |
A |
T |
4: 117,783,915 (GRCm39) |
S184T |
possibly damaging |
Het |
B3galt9 |
A |
T |
2: 34,728,818 (GRCm39) |
I206F |
probably damaging |
Het |
Bcl2a1c |
A |
T |
9: 114,159,248 (GRCm39) |
I9F |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,472,452 (GRCm39) |
D286E |
probably damaging |
Het |
Cdc25a |
G |
A |
9: 109,708,303 (GRCm39) |
E98K |
probably benign |
Het |
Cdr2l |
A |
T |
11: 115,284,741 (GRCm39) |
Q359L |
probably damaging |
Het |
Cmip |
C |
T |
8: 118,138,094 (GRCm39) |
T103M |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,742,268 (GRCm39) |
T1358A |
probably benign |
Het |
Dedd2 |
C |
T |
7: 24,910,705 (GRCm39) |
R157Q |
probably benign |
Het |
Dhrs1 |
A |
G |
14: 55,982,499 (GRCm39) |
V9A |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,558,973 (GRCm39) |
V573E |
probably benign |
Het |
Eef2k |
A |
T |
7: 120,490,930 (GRCm39) |
I517F |
possibly damaging |
Het |
En1 |
T |
C |
1: 120,531,090 (GRCm39) |
F110S |
possibly damaging |
Het |
Evpl |
T |
A |
11: 116,111,853 (GRCm39) |
I1946F |
probably damaging |
Het |
Gaa |
A |
T |
11: 119,168,393 (GRCm39) |
M502L |
probably benign |
Het |
Gfer |
C |
T |
17: 24,914,846 (GRCm39) |
A66T |
possibly damaging |
Het |
Gm13271 |
A |
G |
4: 88,673,213 (GRCm39) |
T37A |
probably benign |
Het |
Grm3 |
C |
T |
5: 9,561,499 (GRCm39) |
A784T |
probably damaging |
Het |
H3c8 |
A |
G |
13: 23,719,628 (GRCm39) |
K5E |
probably benign |
Het |
Helz |
C |
G |
11: 107,493,835 (GRCm39) |
S277C |
probably damaging |
Het |
Henmt1 |
T |
G |
3: 108,867,652 (GRCm39) |
*396G |
probably null |
Het |
Hfe |
C |
T |
13: 23,889,667 (GRCm39) |
V327I |
probably benign |
Het |
Hoxd8 |
A |
T |
2: 74,536,313 (GRCm39) |
Q141L |
probably damaging |
Het |
Hspa12b |
T |
G |
2: 130,987,103 (GRCm39) |
S675A |
probably benign |
Het |
Ifi214 |
G |
A |
1: 173,354,133 (GRCm39) |
T179I |
possibly damaging |
Het |
Ighv5-9 |
T |
A |
12: 113,625,404 (GRCm39) |
Y113F |
possibly damaging |
Het |
Lca5l |
T |
A |
16: 95,979,808 (GRCm39) |
R112S |
probably benign |
Het |
Lmbrd1 |
C |
T |
1: 24,770,843 (GRCm39) |
P257S |
probably benign |
Het |
Loxhd1 |
C |
T |
18: 77,444,468 (GRCm39) |
T608I |
possibly damaging |
Het |
Lpl |
C |
A |
8: 69,345,280 (GRCm39) |
L95I |
probably damaging |
Het |
Lrp2bp |
A |
T |
8: 46,473,732 (GRCm39) |
Q196L |
probably damaging |
Het |
Ly6h |
A |
G |
15: 75,438,056 (GRCm39) |
Y19H |
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,697,706 (GRCm39) |
|
probably benign |
Het |
Mpo |
T |
C |
11: 87,687,165 (GRCm39) |
I237T |
probably benign |
Het |
Mrpl41 |
A |
G |
2: 24,864,878 (GRCm39) |
W6R |
unknown |
Het |
Muc16 |
T |
A |
9: 18,567,353 (GRCm39) |
H1722L |
unknown |
Het |
Mug1 |
A |
C |
6: 121,851,434 (GRCm39) |
D777A |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,111,354 (GRCm39) |
I1598F |
probably benign |
Het |
Myo1f |
C |
T |
17: 33,794,879 (GRCm39) |
R40C |
probably damaging |
Het |
Myo6 |
G |
A |
9: 80,207,949 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
G |
T |
9: 110,458,707 (GRCm39) |
N2071K |
probably damaging |
Het |
Nectin4 |
T |
A |
1: 171,211,282 (GRCm39) |
C269S |
probably damaging |
Het |
Nhlrc1 |
A |
T |
13: 47,167,990 (GRCm39) |
L89Q |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,160,904 (GRCm39) |
F103S |
probably damaging |
Het |
Obscn |
C |
A |
11: 58,970,470 (GRCm39) |
V2379F |
probably damaging |
Het |
Or5m8 |
A |
T |
2: 85,823,172 (GRCm39) |
*337L |
probably null |
Het |
Or5p62 |
A |
T |
7: 107,771,852 (GRCm39) |
I33N |
possibly damaging |
Het |
Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
Ptbp3 |
A |
G |
4: 59,517,584 (GRCm39) |
V101A |
probably benign |
Het |
Rps6kb2 |
C |
T |
19: 4,213,229 (GRCm39) |
D6N |
probably damaging |
Het |
Rsph1 |
T |
A |
17: 31,484,828 (GRCm39) |
H154L |
probably damaging |
Het |
Sdk1 |
G |
A |
5: 142,071,382 (GRCm39) |
V1191M |
probably damaging |
Het |
Selenos |
T |
A |
7: 65,729,467 (GRCm39) |
D2E |
probably benign |
Het |
Sema5a |
G |
A |
15: 32,562,868 (GRCm39) |
G293D |
possibly damaging |
Het |
Sgcg |
A |
G |
14: 61,469,930 (GRCm39) |
S144P |
probably damaging |
Het |
Sh3d19 |
T |
C |
3: 85,992,659 (GRCm39) |
V229A |
probably benign |
Het |
Sin3b |
C |
T |
8: 73,476,708 (GRCm39) |
A714V |
probably benign |
Het |
Slitrk6 |
T |
A |
14: 110,988,123 (GRCm39) |
Q528L |
possibly damaging |
Het |
Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,535,932 (GRCm39) |
L4063H |
probably damaging |
Het |
Stard9 |
A |
C |
2: 120,535,943 (GRCm39) |
K4067Q |
probably damaging |
Het |
Terb1 |
A |
G |
8: 105,195,741 (GRCm39) |
|
probably null |
Het |
Tex2 |
T |
A |
11: 106,435,194 (GRCm39) |
H744L |
unknown |
Het |
Tex2 |
T |
C |
11: 106,458,414 (GRCm39) |
S339G |
unknown |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Trhr |
A |
T |
15: 44,061,212 (GRCm39) |
N244I |
probably benign |
Het |
Ttn |
G |
A |
2: 76,582,409 (GRCm39) |
A22828V |
probably damaging |
Het |
Uchl1 |
C |
T |
5: 66,833,601 (GRCm39) |
|
probably benign |
Het |
Uroc1 |
A |
T |
6: 90,328,110 (GRCm39) |
I529F |
probably damaging |
Het |
Vps13c |
G |
T |
9: 67,766,122 (GRCm39) |
V80F |
probably damaging |
Het |
Wnt1 |
T |
A |
15: 98,690,645 (GRCm39) |
C325S |
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 |
130,873,762 (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 |
|
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'- ACTGAAGATGTTGCTACTGTGTC -3'
(R):5'- GTGATACTACCACCTCTAGCAG -3'
Sequencing Primer
(F):5'- GAAGATGTTGCTACTGTGTCATTAAC -3'
(R):5'- CCTCTAGCAGGTAAGGTGTG -3'
|
Posted On |
2021-04-30 |