Incidental Mutation 'IGL03405:Caprin1'
| ID |
421553 |
| 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 # |
IGL03405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103609850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 143
(R143C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028607]
[ENSMUST00000111147]
|
| AlphaFold |
Q60865 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028607
AA Change: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: R143C
| 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: R143C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: R143C
| 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: ENSMUST00000137390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141750
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000145697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155733
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,907,229 (GRCm39) |
V101A |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,121,681 (GRCm39) |
M121I |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,716,445 (GRCm39) |
I340T |
possibly damaging |
Het |
| Chmp6 |
A |
G |
11: 119,806,273 (GRCm39) |
Y33C |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,415,327 (GRCm39) |
D679G |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,020,918 (GRCm39) |
A430T |
possibly damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,508 (GRCm39) |
V28E |
probably damaging |
Het |
| Eno2 |
T |
A |
6: 124,740,848 (GRCm39) |
Y236F |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,369,397 (GRCm39) |
S415G |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,118,753 (GRCm39) |
I648T |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,478,278 (GRCm39) |
D2441E |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,012,599 (GRCm39) |
V2298A |
probably benign |
Het |
| Fbxl8 |
C |
A |
8: 105,994,752 (GRCm39) |
T88K |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,264,247 (GRCm39) |
H400R |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,925,701 (GRCm39) |
T892I |
probably damaging |
Het |
| Jaml |
A |
T |
9: 45,005,107 (GRCm39) |
K124N |
possibly damaging |
Het |
| Llgl2 |
G |
T |
11: 115,741,668 (GRCm39) |
E599D |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,444,377 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,890,950 (GRCm39) |
K7194R |
unknown |
Het |
| Or2o1 |
A |
G |
11: 49,051,713 (GRCm39) |
|
probably null |
Het |
| Or5m8 |
A |
G |
2: 85,822,230 (GRCm39) |
Q23R |
possibly damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,044,170 (GRCm39) |
I961N |
probably damaging |
Het |
| Retreg3 |
T |
C |
11: 100,991,795 (GRCm39) |
D46G |
probably damaging |
Het |
| Rtp2 |
A |
C |
16: 23,746,326 (GRCm39) |
S122A |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,062,139 (GRCm39) |
D146V |
probably damaging |
Het |
| Slc39a13 |
A |
G |
2: 90,893,448 (GRCm39) |
V324A |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,915,593 (GRCm39) |
T2013A |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,498,404 (GRCm39) |
|
probably benign |
Het |
| Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
| Trpm2 |
G |
A |
10: 77,801,906 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,276 (GRCm39) |
L34570P |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,186 (GRCm39) |
V806A |
probably damaging |
Het |
| Wdr70 |
A |
G |
15: 8,065,352 (GRCm39) |
S237P |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
| Zan |
T |
A |
5: 137,422,859 (GRCm39) |
D2718V |
unknown |
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 |
|
IGL01369:Caprin1
|
APN |
2 |
103,599,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation