Incidental Mutation 'IGL01369:Caprin1'
| ID |
76070 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Caprin1
|
| Ensembl Gene |
ENSMUSG00000027184 |
| Gene Name |
cell cycle associated protein 1 |
| Synonyms |
caprin-1, RNG105, Gpiap1, MMGPIP137 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.591)
|
| Stock # |
IGL01369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103599210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 46
(P46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028607]
[ENSMUST00000111147]
[ENSMUST00000145606]
|
| AlphaFold |
Q60865 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028607
AA Change: P645S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: P645S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
coiled coil region
|
52 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
335 |
N/A |
INTRINSIC |
|
Pfam:Caprin-1_C
|
365 |
681 |
1.4e-173 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111147
AA Change: P645S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: P645S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
coiled coil region
|
52 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
335 |
N/A |
INTRINSIC |
|
Pfam:Caprin-1_C
|
365 |
680 |
2.4e-135 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143188
|
| SMART Domains |
Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
84 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
148 |
N/A |
INTRINSIC |
|
Pfam:Caprin-1_C
|
178 |
254 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145606
AA Change: P46S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119327
Gene: ENSMUSG00000027184
AA Change: P46S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caprin-1_C
|
1 |
33 |
2.9e-11 |
PFAM |
|
Pfam:Caprin-1_C
|
32 |
82 |
1.4e-26 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143349
AA Change: P166S
|
| SMART Domains |
Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184
AA Change: P166S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caprin-1_C
|
1 |
202 |
8.2e-95 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149175
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased fetal size, bent posture, cyanosis, respiratory failure, and neonatal lethality with impaired neuronal network development and reduced dendritic localization of sodium potassium ATPase subunit isoform mRNAs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
T |
C |
4: 144,401,215 (GRCm39) |
T90A |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,476,215 (GRCm39) |
T96A |
probably damaging |
Het |
| Adam34 |
T |
A |
8: 44,104,094 (GRCm39) |
K517M |
probably benign |
Het |
| Atm |
A |
T |
9: 53,426,617 (GRCm39) |
I547N |
probably benign |
Het |
| Cadm4 |
A |
T |
7: 24,198,947 (GRCm39) |
D74V |
possibly damaging |
Het |
| Cbl |
A |
T |
9: 44,112,358 (GRCm39) |
Y112* |
probably null |
Het |
| Ccdc180 |
T |
C |
4: 45,900,256 (GRCm39) |
V246A |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,975,259 (GRCm39) |
E1103V |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,384,933 (GRCm39) |
P428L |
probably benign |
Het |
| Cntn2 |
T |
A |
1: 132,443,843 (GRCm39) |
I979F |
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,875,707 (GRCm39) |
S1193P |
unknown |
Het |
| Fga |
A |
T |
3: 82,937,507 (GRCm39) |
Y128F |
probably benign |
Het |
| Glyr1 |
A |
T |
16: 4,838,152 (GRCm39) |
D365E |
probably benign |
Het |
| Gmppb |
G |
A |
9: 107,928,446 (GRCm39) |
|
probably null |
Het |
| Gmps |
A |
T |
3: 63,909,013 (GRCm39) |
H505L |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,464 (GRCm39) |
N172S |
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,803,030 (GRCm39) |
E65G |
probably null |
Het |
| Hsd17b4 |
T |
C |
18: 50,305,100 (GRCm39) |
S446P |
possibly damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,927,737 (GRCm39) |
T382I |
probably benign |
Het |
| Klra7 |
A |
T |
6: 130,203,498 (GRCm39) |
Y169* |
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,745,055 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,416,897 (GRCm39) |
E211G |
possibly damaging |
Het |
| Maf1 |
T |
A |
15: 76,236,892 (GRCm39) |
F44I |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,984 (GRCm39) |
S84P |
probably damaging |
Het |
| Morc2b |
T |
C |
17: 33,357,139 (GRCm39) |
E211G |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,909,040 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,392,946 (GRCm39) |
C3205F |
possibly damaging |
Het |
| Myg1 |
G |
A |
15: 102,242,773 (GRCm39) |
V155M |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,258,459 (GRCm39) |
N247S |
probably benign |
Het |
| Nek11 |
A |
G |
9: 105,177,259 (GRCm39) |
|
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,139 (GRCm39) |
|
probably benign |
Het |
| Nudcd3 |
A |
G |
11: 6,100,551 (GRCm39) |
Y134H |
probably damaging |
Het |
| Ogfod1 |
T |
C |
8: 94,789,719 (GRCm39) |
|
probably null |
Het |
| Or5b99 |
A |
T |
19: 12,977,125 (GRCm39) |
L258F |
possibly damaging |
Het |
| Orm2 |
T |
C |
4: 63,281,215 (GRCm39) |
V51A |
probably benign |
Het |
| P2ry14 |
T |
C |
3: 59,022,756 (GRCm39) |
I244V |
probably damaging |
Het |
| Poll |
A |
G |
19: 45,542,115 (GRCm39) |
V397A |
probably damaging |
Het |
| Ppdpf |
C |
A |
2: 180,829,687 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,659,495 (GRCm39) |
E1249G |
probably benign |
Het |
| Rdh16f1 |
C |
A |
10: 127,595,844 (GRCm39) |
T13K |
probably benign |
Het |
| Rrp1 |
G |
A |
10: 78,240,905 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
G |
11: 4,053,432 (GRCm39) |
M346T |
probably benign |
Het |
| Sh2d2a |
A |
T |
3: 87,759,136 (GRCm39) |
Q246L |
probably benign |
Het |
| Slc44a1 |
G |
A |
4: 53,491,448 (GRCm39) |
D62N |
probably damaging |
Het |
| Snx22 |
A |
G |
9: 65,976,060 (GRCm39) |
Y58H |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,852,548 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,599,779 (GRCm39) |
D19104V |
probably damaging |
Het |
| Ugt2a3 |
T |
C |
5: 87,474,979 (GRCm39) |
S422G |
probably damaging |
Het |
| Zfyve19 |
G |
T |
2: 119,041,094 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Caprin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Caprin1
|
APN |
2 |
103,605,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02054:Caprin1
|
APN |
2 |
103,602,143 (GRCm39) |
splice site |
probably null |
|
|
IGL02260:Caprin1
|
APN |
2 |
103,609,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02526:Caprin1
|
APN |
2 |
103,605,948 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03405:Caprin1
|
APN |
2 |
103,609,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Caprin1
|
UTSW |
2 |
103,605,925 (GRCm39) |
unclassified |
probably benign |
|
|
R0396:Caprin1
|
UTSW |
2 |
103,599,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0603:Caprin1
|
UTSW |
2 |
103,627,146 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1406:Caprin1
|
UTSW |
2 |
103,606,332 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1406:Caprin1
|
UTSW |
2 |
103,606,332 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1558:Caprin1
|
UTSW |
2 |
103,606,332 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1657:Caprin1
|
UTSW |
2 |
103,599,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2945:Caprin1
|
UTSW |
2 |
103,603,154 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3946:Caprin1
|
UTSW |
2 |
103,627,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5208:Caprin1
|
UTSW |
2 |
103,599,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6108:Caprin1
|
UTSW |
2 |
103,606,362 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6603:Caprin1
|
UTSW |
2 |
103,605,856 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7247:Caprin1
|
UTSW |
2 |
103,609,819 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7338:Caprin1
|
UTSW |
2 |
103,609,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7624:Caprin1
|
UTSW |
2 |
103,603,022 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7749:Caprin1
|
UTSW |
2 |
103,602,099 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7946:Caprin1
|
UTSW |
2 |
103,603,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8304:Caprin1
|
UTSW |
2 |
103,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Caprin1
|
UTSW |
2 |
103,613,526 (GRCm39) |
nonsense |
probably null |
|
|
R8547:Caprin1
|
UTSW |
2 |
103,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8549:Caprin1
|
UTSW |
2 |
103,599,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Caprin1
|
UTSW |
2 |
103,603,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8946:Caprin1
|
UTSW |
2 |
103,608,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Caprin1
|
UTSW |
2 |
103,603,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Caprin1
|
UTSW |
2 |
103,606,283 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1177:Caprin1
|
UTSW |
2 |
103,606,279 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation