Incidental Mutation 'R6108:Caprin1'
| ID |
485589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caprin1
|
| Ensembl Gene |
ENSMUSG00000027184 |
| Gene Name |
cell cycle associated protein 1 |
| Synonyms |
caprin-1, RNG105, Gpiap1, MMGPIP137 |
| MMRRC Submission |
044258-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
R6108 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103606362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 293
(V293I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028607]
[ENSMUST00000111147]
[ENSMUST00000145606]
|
| AlphaFold |
Q60865 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028607
AA Change: V293I
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: V293I
| 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 |
possibly damaging
Transcript: ENSMUST00000111147
AA Change: V293I
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: V293I
| 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 |
noncoding transcript
Transcript: ENSMUST00000141750
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143188
AA Change: V105I
|
| SMART Domains |
Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184
AA Change: V105I
| 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 |
noncoding transcript
Transcript: ENSMUST00000145697
|
| 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 |
|
| Meta Mutation Damage Score |
0.1015 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
96% (53/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,539,814 (GRCm39) |
F5702L |
probably damaging |
Het |
| Aptx |
G |
A |
4: 40,694,986 (GRCm39) |
Q117* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,362,214 (GRCm39) |
M186K |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,481,365 (GRCm39) |
L249Q |
probably damaging |
Het |
| Ccdc136 |
C |
A |
6: 29,412,449 (GRCm39) |
H334Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,911,389 (GRCm39) |
N568S |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,394,210 (GRCm39) |
F515L |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,500,230 (GRCm39) |
V29E |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,457,048 (GRCm39) |
L1956P |
probably damaging |
Het |
| Cyp2d22 |
T |
C |
15: 82,256,106 (GRCm39) |
K176R |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,496,004 (GRCm39) |
I3151N |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,304 (GRCm39) |
D792E |
probably benign |
Het |
| Fam167b |
A |
T |
4: 129,472,101 (GRCm39) |
L23* |
probably null |
Het |
| Fermt3 |
C |
A |
19: 6,991,782 (GRCm39) |
R143L |
probably benign |
Het |
| Gfm2 |
A |
G |
13: 97,285,930 (GRCm39) |
I140V |
possibly damaging |
Het |
| Gna14 |
A |
G |
19: 16,580,707 (GRCm39) |
T182A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,978 (GRCm39) |
V3738A |
possibly damaging |
Het |
| Hspa4 |
C |
T |
11: 53,152,539 (GRCm39) |
G810D |
probably damaging |
Het |
| Igf2bp3 |
A |
G |
6: 49,094,308 (GRCm39) |
I154T |
probably damaging |
Het |
| Il1rap |
G |
A |
16: 26,541,457 (GRCm39) |
S566N |
probably damaging |
Het |
| Kcnb1 |
G |
A |
2: 166,947,060 (GRCm39) |
T596M |
probably damaging |
Het |
| Kcnn1 |
A |
C |
8: 71,307,800 (GRCm39) |
S81A |
probably benign |
Het |
| Lmod1 |
G |
A |
1: 135,291,849 (GRCm39) |
G235R |
probably benign |
Het |
| Mei1 |
A |
T |
15: 81,959,389 (GRCm39) |
R185S |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,952,960 (GRCm39) |
V414M |
possibly damaging |
Het |
| Mon2 |
C |
A |
10: 122,868,600 (GRCm39) |
M484I |
probably benign |
Het |
| Nae1 |
A |
T |
8: 105,254,034 (GRCm39) |
D99E |
probably benign |
Het |
| Nsun7 |
T |
A |
5: 66,453,142 (GRCm39) |
I619N |
probably damaging |
Het |
| Nudt12 |
C |
A |
17: 59,314,744 (GRCm39) |
R280L |
probably damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,778 (GRCm39) |
V175A |
possibly damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,596 (GRCm39) |
I245N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Plek |
T |
A |
11: 16,940,058 (GRCm39) |
Y217F |
probably damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,399 (GRCm39) |
I208F |
possibly damaging |
Het |
| Ptges3-ps |
C |
T |
6: 85,821,537 (GRCm39) |
|
noncoding transcript |
Het |
| Ptprf |
A |
G |
4: 118,080,453 (GRCm39) |
L1267P |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,045,658 (GRCm39) |
S2143C |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,393 (GRCm39) |
D1764G |
probably damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,458 (GRCm39) |
L288Q |
probably damaging |
Het |
| Slc6a20b |
T |
G |
9: 123,425,251 (GRCm39) |
M539L |
probably benign |
Het |
| Slfnl1 |
A |
G |
4: 120,390,558 (GRCm39) |
T70A |
probably benign |
Het |
| Smtn |
C |
A |
11: 3,479,608 (GRCm39) |
L486F |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,781,420 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
A |
6: 42,192,691 (GRCm39) |
L144I |
possibly damaging |
Het |
| Tjp3 |
C |
T |
10: 81,116,980 (GRCm39) |
R183K |
probably benign |
Het |
| Tnip3 |
A |
G |
6: 65,502,395 (GRCm39) |
|
probably null |
Het |
| Tspan12 |
T |
A |
6: 21,772,770 (GRCm39) |
M212L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,708,385 (GRCm39) |
|
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,545 (GRCm39) |
M48V |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,667 (GRCm39) |
F761S |
probably damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,058,950 (GRCm39) |
T348A |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,480 (GRCm39) |
L333F |
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 |
|
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 |
|
|
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'- TGCTGGAGTGAGTTTACAACC -3'
(R):5'- AGCATTCCTGTTAGAGGTGC -3'
Sequencing Primer
(F):5'- ATTTTCATGACTGCTTCCCAAAC -3'
(R):5'- GTGCATTTGTTACAGTTGATAAGCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation