Incidental Mutation 'R2945:Caprin1'
| ID |
255841 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2945 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103603154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 470
(S470P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028607]
[ENSMUST00000111147]
[ENSMUST00000145606]
|
| AlphaFold |
Q60865 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028607
AA Change: S470P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: S470P
| 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 benign
Transcript: ENSMUST00000111147
AA Change: S470P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: S470P
| 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 |
noncoding transcript
Transcript: ENSMUST00000149175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143349
|
| SMART Domains |
Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Caprin-1_C
|
1 |
202 |
8.2e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145606
|
| SMART Domains |
Protein: ENSMUSP00000119327
Gene: ENSMUSG00000027184
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 8 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
G |
A |
8: 106,426,927 (GRCm39) |
Q132* |
probably null |
Het |
| Bag4 |
C |
T |
8: 26,261,280 (GRCm39) |
A154T |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,672,992 (GRCm39) |
T888A |
probably benign |
Het |
| Fam111a |
C |
A |
19: 12,565,230 (GRCm39) |
C326* |
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,457,136 (GRCm39) |
V2310A |
possibly damaging |
Het |
| Purg |
T |
A |
8: 33,876,671 (GRCm39) |
I103N |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,495,735 (GRCm39) |
N461Y |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,362,135 (GRCm39) |
T290A |
possibly damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCGTTTTGAGATTCATACACAC -3'
(R):5'- AGCCATCTCATGCTACGGAG -3'
Sequencing Primer
(F):5'- CTAGAAAATGCTAAGTGCTCACCG -3'
(R):5'- CCAATGGATCAGATTCAGGTAAGTTC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation