Incidental Mutation 'R5199:Cpne8'
| ID |
400627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne8
|
| Ensembl Gene |
ENSMUSG00000052560 |
| Gene Name |
copine VIII |
| Synonyms |
1500031E20Rik, 1200003E11Rik |
| MMRRC Submission |
042775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90532812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 65
(T65I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014777]
[ENSMUST00000064391]
[ENSMUST00000088649]
|
| AlphaFold |
Q9DC53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014777
AA Change: T65I
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000014777
Gene: ENSMUSG00000052560
AA Change: T65I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
37 |
75 |
6e-21 |
BLAST |
|
SCOP:d1bdya_
|
38 |
64 |
9e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064391
AA Change: T65I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: T65I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
37 |
145 |
9.76e-10 |
SMART |
|
C2
|
170 |
277 |
1.06e-10 |
SMART |
|
low complexity region
|
284 |
291 |
N/A |
INTRINSIC |
|
VWA
|
320 |
518 |
1.34e-9 |
SMART |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088649
AA Change: T65I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: T65I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
37 |
139 |
8.78e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154569
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the copine family of highly conserved, calcium-dependent phospholipid binding proteins. The encoded protein has two characteristic C2 domains and a VWFA domain and may play a role in membrane trafficking. A related pseudogene is found on chromosome 8. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
C |
3: 59,843,906 (GRCm39) |
L200P |
probably damaging |
Het |
| Adam1a |
T |
C |
5: 121,659,215 (GRCm39) |
E26G |
probably benign |
Het |
| Adar |
T |
A |
3: 89,653,251 (GRCm39) |
M797K |
probably damaging |
Het |
| Amdhd1 |
A |
T |
10: 93,361,847 (GRCm39) |
C352S |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,473,356 (GRCm39) |
R387S |
probably damaging |
Het |
| Cabp1 |
A |
G |
5: 115,324,102 (GRCm39) |
V5A |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,295,853 (GRCm39) |
L387P |
probably damaging |
Het |
| Cds2 |
T |
A |
2: 132,140,403 (GRCm39) |
H200Q |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,710,581 (GRCm39) |
L1470Q |
probably damaging |
Het |
| Cnnm1 |
A |
G |
19: 43,483,425 (GRCm39) |
D956G |
possibly damaging |
Het |
| Cnot8 |
C |
T |
11: 58,006,100 (GRCm39) |
Q210* |
probably null |
Het |
| Crygn |
A |
G |
5: 24,961,156 (GRCm39) |
V50A |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,283 (GRCm39) |
V126A |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,921,346 (GRCm39) |
D464G |
probably benign |
Het |
| Dapp1 |
C |
T |
3: 137,687,146 (GRCm39) |
S12N |
probably benign |
Het |
| Dhps |
G |
A |
8: 85,800,035 (GRCm39) |
G162R |
probably damaging |
Het |
| Dsp |
T |
G |
13: 38,376,878 (GRCm39) |
Y1554* |
probably null |
Het |
| Etl4 |
G |
T |
2: 20,748,853 (GRCm39) |
R397L |
probably damaging |
Het |
| Ezh2 |
C |
T |
6: 47,528,659 (GRCm39) |
C291Y |
probably benign |
Het |
| Gbp9 |
T |
C |
5: 105,231,678 (GRCm39) |
S303G |
probably benign |
Het |
| Gm11444 |
A |
C |
11: 85,738,845 (GRCm39) |
S83A |
unknown |
Het |
| Gpat4 |
A |
G |
8: 23,672,712 (GRCm39) |
V46A |
possibly damaging |
Het |
| Haus6 |
T |
C |
4: 86,501,222 (GRCm39) |
D883G |
possibly damaging |
Het |
| Hinfp |
T |
C |
9: 44,207,689 (GRCm39) |
E439G |
probably benign |
Het |
| Ifna14 |
T |
A |
4: 88,489,599 (GRCm39) |
Y146F |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,488 (GRCm39) |
Y110F |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,942 (GRCm39) |
|
noncoding transcript |
Het |
| Klrh1 |
T |
A |
6: 129,752,781 (GRCm39) |
Y8F |
possibly damaging |
Het |
| Mcmdc2 |
T |
C |
1: 9,990,660 (GRCm39) |
V279A |
probably benign |
Het |
| Mug2 |
T |
A |
6: 122,017,619 (GRCm39) |
V452D |
probably benign |
Het |
| Ndufb3 |
C |
G |
1: 58,630,281 (GRCm39) |
|
probably benign |
Het |
| Oas1d |
G |
T |
5: 121,057,208 (GRCm39) |
K271N |
probably benign |
Het |
| Or4c110 |
T |
A |
2: 88,832,107 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or5ac21 |
T |
A |
16: 59,124,103 (GRCm39) |
F196I |
probably benign |
Het |
| Or9g3 |
A |
G |
2: 85,590,558 (GRCm39) |
L54P |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,254,378 (GRCm39) |
H817L |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,352 (GRCm39) |
S724R |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,101,124 (GRCm39) |
V464E |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,803,272 (GRCm39) |
E38G |
probably benign |
Het |
| Qtrt2 |
T |
C |
16: 43,687,788 (GRCm39) |
N264S |
probably benign |
Het |
| Ranbp2 |
G |
A |
10: 58,300,265 (GRCm39) |
R557H |
probably benign |
Het |
| Rptor |
T |
A |
11: 119,494,642 (GRCm39) |
S3T |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,406,019 (GRCm39) |
Y60F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,985,564 (GRCm39) |
V30A |
probably benign |
Het |
| Tmem245 |
G |
A |
4: 56,925,149 (GRCm39) |
S324L |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,223,871 (GRCm39) |
|
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,589,636 (GRCm39) |
T382A |
possibly damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,814 (GRCm39) |
L214F |
probably benign |
Het |
| Vmn2r82 |
G |
A |
10: 79,231,921 (GRCm39) |
C640Y |
probably damaging |
Het |
| Vsx2 |
A |
G |
12: 84,639,984 (GRCm39) |
D281G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,013 (GRCm39) |
C1017S |
probably benign |
Het |
|
| Other mutations in Cpne8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Cpne8
|
APN |
15 |
90,381,261 (GRCm39) |
splice site |
probably benign |
|
|
IGL00545:Cpne8
|
APN |
15 |
90,424,462 (GRCm39) |
missense |
probably benign |
|
|
IGL00951:Cpne8
|
APN |
15 |
90,486,096 (GRCm39) |
intron |
probably benign |
|
|
IGL01069:Cpne8
|
APN |
15 |
90,499,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01294:Cpne8
|
APN |
15 |
90,385,648 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01720:Cpne8
|
APN |
15 |
90,385,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01843:Cpne8
|
APN |
15 |
90,453,700 (GRCm39) |
missense |
probably benign |
0.17 |
|
PIT4431001:Cpne8
|
UTSW |
15 |
90,436,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0016:Cpne8
|
UTSW |
15 |
90,385,608 (GRCm39) |
splice site |
probably benign |
|
|
R0016:Cpne8
|
UTSW |
15 |
90,385,608 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Cpne8
|
UTSW |
15 |
90,453,771 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Cpne8
|
UTSW |
15 |
90,453,771 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Cpne8
|
UTSW |
15 |
90,384,118 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0545:Cpne8
|
UTSW |
15 |
90,381,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Cpne8
|
UTSW |
15 |
90,532,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Cpne8
|
UTSW |
15 |
90,424,462 (GRCm39) |
missense |
probably benign |
|
|
R0894:Cpne8
|
UTSW |
15 |
90,533,474 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1568:Cpne8
|
UTSW |
15 |
90,503,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1629:Cpne8
|
UTSW |
15 |
90,456,175 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1747:Cpne8
|
UTSW |
15 |
90,469,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1761:Cpne8
|
UTSW |
15 |
90,532,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1884:Cpne8
|
UTSW |
15 |
90,532,831 (GRCm39) |
splice site |
probably benign |
|
|
R2357:Cpne8
|
UTSW |
15 |
90,503,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2434:Cpne8
|
UTSW |
15 |
90,393,714 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4043:Cpne8
|
UTSW |
15 |
90,456,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Cpne8
|
UTSW |
15 |
90,532,771 (GRCm39) |
splice site |
probably benign |
|
|
R4969:Cpne8
|
UTSW |
15 |
90,503,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Cpne8
|
UTSW |
15 |
90,563,438 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5086:Cpne8
|
UTSW |
15 |
90,532,771 (GRCm39) |
splice site |
probably benign |
|
|
R5154:Cpne8
|
UTSW |
15 |
90,384,121 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5424:Cpne8
|
UTSW |
15 |
90,400,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5528:Cpne8
|
UTSW |
15 |
90,503,893 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5946:Cpne8
|
UTSW |
15 |
90,373,191 (GRCm39) |
makesense |
probably null |
|
|
R6158:Cpne8
|
UTSW |
15 |
90,456,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Cpne8
|
UTSW |
15 |
90,381,294 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7486:Cpne8
|
UTSW |
15 |
90,400,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7522:Cpne8
|
UTSW |
15 |
90,486,022 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7684:Cpne8
|
UTSW |
15 |
90,533,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7726:Cpne8
|
UTSW |
15 |
90,385,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7799:Cpne8
|
UTSW |
15 |
90,424,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8162:Cpne8
|
UTSW |
15 |
90,503,881 (GRCm39) |
missense |
probably benign |
|
|
R8353:Cpne8
|
UTSW |
15 |
90,425,496 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8405:Cpne8
|
UTSW |
15 |
90,456,235 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8842:Cpne8
|
UTSW |
15 |
90,456,218 (GRCm39) |
missense |
probably benign |
|
|
R8856:Cpne8
|
UTSW |
15 |
90,486,044 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8922:Cpne8
|
UTSW |
15 |
90,456,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9058:Cpne8
|
UTSW |
15 |
90,381,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9550:Cpne8
|
UTSW |
15 |
90,453,760 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAGGAGTGCAATTTAGC -3'
(R):5'- AGTACTTTTGCCCCAGGTTG -3'
Sequencing Primer
(F):5'- CTTTGGGTTGAGCAACACT -3'
(R):5'- CCCCAGGTTGGCACTTTAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation