Incidental Mutation 'R0496:Cpne1'
ID |
43906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne1
|
Ensembl Gene |
ENSMUSG00000074643 |
Gene Name |
copine I |
Synonyms |
1810028N16Rik |
MMRRC Submission |
038692-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R0496 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 155921339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 16
(H16Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000153634]
[ENSMUST00000136296]
[ENSMUST00000147627]
[ENSMUST00000142960]
[ENSMUST00000154889]
[ENSMUST00000184152]
[ENSMUST00000184265]
[ENSMUST00000183972]
[ENSMUST00000183518]
[ENSMUST00000184899]
|
AlphaFold |
Q8C166 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079312
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078292 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109607
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105236 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109608
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105237 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127956
|
SMART Domains |
Protein: ENSMUSP00000114923 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
RRM
|
217 |
287 |
1.05e-1 |
SMART |
RRM
|
343 |
415 |
2.73e-7 |
SMART |
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132494
|
SMART Domains |
Protein: ENSMUSP00000139175 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133921
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122644 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
Pfam:C2
|
139 |
178 |
3.3e-3 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153634
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115167 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
325 |
4.1e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136296
AA Change: H16Y
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122994 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147627
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116982 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142960
AA Change: H16Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121299 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
2.4e-11 |
SMART |
C2
|
123 |
206 |
3e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154889
AA Change: H16Y
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118140 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147956
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183353
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140109
|
SMART Domains |
Protein: ENSMUSP00000121998 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
Pfam:Copine
|
1 |
148 |
2.1e-50 |
PFAM |
Pfam:vWA-TerF-like
|
5 |
111 |
2.5e-7 |
PFAM |
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159952
|
SMART Domains |
Protein: ENSMUSP00000124101 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
2e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
3e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
160 |
2e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162612
|
SMART Domains |
Protein: ENSMUSP00000125190 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
1e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
2e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
161 |
1e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160165
|
SMART Domains |
Protein: ENSMUSP00000124858 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
PDB:1P3W|A
|
3 |
28 |
1e-6 |
PDB |
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184152
AA Change: H16Y
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139035 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184265
AA Change: H16Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138888 Gene: ENSMUSG00000074643 AA Change: H16Y
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184933
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183518
|
SMART Domains |
Protein: ENSMUSP00000139010 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184899
|
SMART Domains |
Protein: ENSMUSP00000139177 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
54 |
2e-25 |
BLAST |
SCOP:d2u1a__
|
9 |
68 |
6e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183733
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
98% (99/101) |
MGI Phenotype |
FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 97 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,774,005 (GRCm39) |
K1065E |
probably damaging |
Het |
4933402N03Rik |
T |
C |
7: 130,747,860 (GRCm39) |
N44S |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,241,701 (GRCm39) |
D1188G |
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,108,228 (GRCm39) |
|
probably benign |
Het |
Abcc8 |
A |
T |
7: 45,758,244 (GRCm39) |
I1274N |
probably damaging |
Het |
Adamtsl1 |
G |
A |
4: 86,259,435 (GRCm39) |
C827Y |
probably damaging |
Het |
Agap3 |
T |
A |
5: 24,706,241 (GRCm39) |
V369E |
probably damaging |
Het |
Ankrd13b |
G |
A |
11: 77,363,867 (GRCm39) |
R195C |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,609,446 (GRCm39) |
|
probably benign |
Het |
Arhgef40 |
A |
T |
14: 52,242,364 (GRCm39) |
|
probably benign |
Het |
Atad5 |
A |
G |
11: 79,991,182 (GRCm39) |
I692V |
probably benign |
Het |
Atp5f1b |
G |
T |
10: 127,922,043 (GRCm39) |
R310L |
possibly damaging |
Het |
AY358078 |
A |
T |
14: 52,040,989 (GRCm39) |
M103L |
unknown |
Het |
Bcl9l |
T |
G |
9: 44,420,815 (GRCm39) |
V1370G |
probably benign |
Het |
Bglap3 |
T |
A |
3: 88,276,444 (GRCm39) |
Q38L |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,041,784 (GRCm39) |
T2721A |
probably damaging |
Het |
Ccn2 |
G |
T |
10: 24,473,413 (GRCm39) |
M317I |
possibly damaging |
Het |
Cd38 |
T |
C |
5: 44,026,233 (GRCm39) |
F6L |
probably damaging |
Het |
Cela3a |
A |
C |
4: 137,131,779 (GRCm39) |
V138G |
probably damaging |
Het |
Cemip2 |
A |
T |
19: 21,774,709 (GRCm39) |
N117I |
possibly damaging |
Het |
Clvs1 |
T |
A |
4: 9,424,241 (GRCm39) |
I229N |
probably damaging |
Het |
Ctc1 |
T |
C |
11: 68,926,333 (GRCm39) |
L1069P |
probably damaging |
Het |
Dgkd |
G |
A |
1: 87,864,622 (GRCm39) |
S996N |
probably null |
Het |
Dnah9 |
A |
T |
11: 65,965,961 (GRCm39) |
M1685K |
probably null |
Het |
Dnajb12 |
C |
T |
10: 59,715,623 (GRCm39) |
R42* |
probably null |
Het |
Dock5 |
T |
C |
14: 68,054,967 (GRCm39) |
Q633R |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,155,180 (GRCm39) |
M868T |
probably benign |
Het |
Enpp1 |
G |
T |
10: 24,547,950 (GRCm39) |
H208Q |
probably benign |
Het |
Epha7 |
T |
A |
4: 28,821,292 (GRCm39) |
D152E |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,532,091 (GRCm39) |
|
probably benign |
Het |
Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
Gm10964 |
A |
T |
3: 103,646,745 (GRCm39) |
|
probably null |
Het |
Gpbar1 |
T |
C |
1: 74,318,140 (GRCm39) |
F128L |
probably benign |
Het |
Gsx2 |
T |
A |
5: 75,237,726 (GRCm39) |
M226K |
probably benign |
Het |
Gucd1 |
T |
C |
10: 75,347,100 (GRCm39) |
D50G |
possibly damaging |
Het |
Has1 |
A |
G |
17: 18,064,008 (GRCm39) |
Y544H |
probably benign |
Het |
Hc |
A |
T |
2: 34,903,583 (GRCm39) |
Y1024N |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
Itga2 |
T |
C |
13: 114,990,435 (GRCm39) |
Q902R |
probably benign |
Het |
Itgb2l |
T |
C |
16: 96,235,901 (GRCm39) |
K181E |
possibly damaging |
Het |
Jak3 |
A |
T |
8: 72,135,041 (GRCm39) |
H558L |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,032,886 (GRCm39) |
T58A |
probably benign |
Het |
Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
Krt33a |
C |
T |
11: 99,903,155 (GRCm39) |
|
probably benign |
Het |
Magi2 |
A |
T |
5: 20,866,357 (GRCm39) |
|
probably benign |
Het |
Map4 |
G |
A |
9: 109,868,918 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
A |
1: 40,045,982 (GRCm39) |
S754T |
probably damaging |
Het |
Mapk8ip3 |
A |
G |
17: 25,133,424 (GRCm39) |
|
probably benign |
Het |
Mib1 |
A |
G |
18: 10,804,773 (GRCm39) |
S918G |
probably benign |
Het |
Mipol1 |
T |
A |
12: 57,503,963 (GRCm39) |
V377D |
probably damaging |
Het |
Mlh1 |
T |
C |
9: 111,070,624 (GRCm39) |
T364A |
probably benign |
Het |
Mta1 |
C |
T |
12: 113,094,941 (GRCm39) |
Q400* |
probably null |
Het |
Mthfd1l |
C |
G |
10: 4,040,006 (GRCm39) |
R806G |
probably benign |
Het |
Myh13 |
C |
A |
11: 67,239,641 (GRCm39) |
N730K |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,391,301 (GRCm39) |
K937E |
probably damaging |
Het |
Naxd |
T |
C |
8: 11,560,224 (GRCm39) |
|
probably benign |
Het |
Negr1 |
G |
T |
3: 156,721,904 (GRCm39) |
K159N |
probably damaging |
Het |
Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
Or1e1f |
T |
C |
11: 73,855,706 (GRCm39) |
S91P |
probably benign |
Het |
Or2j3 |
A |
G |
17: 38,615,549 (GRCm39) |
S268P |
probably damaging |
Het |
Or51v14 |
C |
T |
7: 103,261,204 (GRCm39) |
A119T |
probably benign |
Het |
Or52r1c |
T |
C |
7: 102,734,797 (GRCm39) |
I19T |
probably damaging |
Het |
Or5d41 |
A |
T |
2: 88,054,499 (GRCm39) |
Y292* |
probably null |
Het |
Pcsk6 |
G |
A |
7: 65,576,997 (GRCm39) |
S58N |
probably benign |
Het |
Pdzrn3 |
G |
A |
6: 101,127,531 (GRCm39) |
T1045I |
possibly damaging |
Het |
Pitrm1 |
T |
C |
13: 6,618,750 (GRCm39) |
L641P |
probably damaging |
Het |
Pkd1l1 |
G |
T |
11: 8,879,430 (GRCm39) |
H474N |
probably damaging |
Het |
Pltp |
A |
G |
2: 164,694,381 (GRCm39) |
|
probably benign |
Het |
Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,537,713 (GRCm39) |
|
probably benign |
Het |
Rhbg |
A |
G |
3: 88,161,805 (GRCm39) |
V50A |
probably benign |
Het |
Rnf135 |
G |
A |
11: 80,074,776 (GRCm39) |
V12M |
probably damaging |
Het |
Rnf7l |
G |
T |
10: 63,257,381 (GRCm39) |
C46* |
probably null |
Het |
Rufy2 |
T |
C |
10: 62,828,949 (GRCm39) |
V117A |
probably damaging |
Het |
Safb |
A |
G |
17: 56,912,630 (GRCm39) |
M866V |
probably benign |
Het |
Slc35c2 |
G |
T |
2: 165,122,735 (GRCm39) |
T183K |
probably damaging |
Het |
Slc39a7 |
A |
G |
17: 34,248,512 (GRCm39) |
L377P |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,596,750 (GRCm39) |
|
probably benign |
Het |
Spaca9 |
G |
A |
2: 28,583,022 (GRCm39) |
H133Y |
probably damaging |
Het |
Spout1 |
A |
G |
2: 30,064,983 (GRCm39) |
F339S |
probably benign |
Het |
St6gal2 |
A |
G |
17: 55,789,015 (GRCm39) |
I16M |
probably damaging |
Het |
Stat2 |
T |
C |
10: 128,112,378 (GRCm39) |
M6T |
probably benign |
Het |
Swt1 |
T |
A |
1: 151,287,021 (GRCm39) |
H157L |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,085,714 (GRCm39) |
N147D |
possibly damaging |
Het |
Tmem222 |
A |
T |
4: 133,004,902 (GRCm39) |
M45K |
possibly damaging |
Het |
Tmem30a |
T |
A |
9: 79,684,567 (GRCm39) |
H95L |
probably damaging |
Het |
Tns3 |
A |
C |
11: 8,497,262 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,676,142 (GRCm39) |
I103V |
probably benign |
Het |
Ube2n |
T |
C |
10: 95,377,206 (GRCm39) |
F57S |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,460,499 (GRCm39) |
S219P |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,862,695 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
Wnt8a |
A |
G |
18: 34,677,900 (GRCm39) |
N103D |
probably damaging |
Het |
Zfp523 |
G |
A |
17: 28,419,419 (GRCm39) |
E186K |
possibly damaging |
Het |
Zfp791 |
A |
T |
8: 85,836,609 (GRCm39) |
D418E |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,485,682 (GRCm39) |
V192A |
probably benign |
Het |
|
Other mutations in Cpne1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02118:Cpne1
|
APN |
2 |
155,919,563 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02291:Cpne1
|
APN |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Cpne1
|
APN |
2 |
155,920,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Cpne1
|
APN |
2 |
155,919,917 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03347:Cpne1
|
APN |
2 |
155,921,096 (GRCm39) |
missense |
probably damaging |
1.00 |
johannesburg
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
FR4449:Cpne1
|
UTSW |
2 |
155,915,422 (GRCm39) |
intron |
probably benign |
|
FR4976:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
R0735:Cpne1
|
UTSW |
2 |
155,920,670 (GRCm39) |
critical splice donor site |
probably null |
|
R0792:Cpne1
|
UTSW |
2 |
155,919,339 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Cpne1
|
UTSW |
2 |
155,920,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Cpne1
|
UTSW |
2 |
155,920,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Cpne1
|
UTSW |
2 |
155,915,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R3000:Cpne1
|
UTSW |
2 |
155,915,342 (GRCm39) |
makesense |
probably null |
|
R3875:Cpne1
|
UTSW |
2 |
155,918,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Cpne1
|
UTSW |
2 |
155,940,193 (GRCm39) |
intron |
probably benign |
|
R5385:Cpne1
|
UTSW |
2 |
155,916,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R5654:Cpne1
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Cpne1
|
UTSW |
2 |
155,920,143 (GRCm39) |
missense |
probably benign |
0.00 |
R6775:Cpne1
|
UTSW |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Cpne1
|
UTSW |
2 |
155,920,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Cpne1
|
UTSW |
2 |
155,919,857 (GRCm39) |
missense |
probably benign |
0.00 |
R8212:Cpne1
|
UTSW |
2 |
155,920,134 (GRCm39) |
missense |
probably damaging |
0.96 |
R8332:Cpne1
|
UTSW |
2 |
155,920,317 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Cpne1
|
UTSW |
2 |
155,920,873 (GRCm39) |
missense |
probably benign |
0.30 |
R8921:Cpne1
|
UTSW |
2 |
155,913,965 (GRCm39) |
missense |
probably benign |
0.20 |
R9094:Cpne1
|
UTSW |
2 |
155,921,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R9095:Cpne1
|
UTSW |
2 |
155,918,210 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9311:Cpne1
|
UTSW |
2 |
155,919,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R9380:Cpne1
|
UTSW |
2 |
155,920,721 (GRCm39) |
missense |
probably benign |
0.01 |
RF034:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF037:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF043:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
Z1176:Cpne1
|
UTSW |
2 |
155,919,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGCGAACACGTTCAGTCCG -3'
(R):5'- AGCATTGCTGAGGTTAAGGCCAC -3'
Sequencing Primer
(F):5'- ACGTTCAGTCCGGCAAAG -3'
(R):5'- CCAGAGTTTGGTGTCACAAC -3'
|
Posted On |
2013-05-29 |