Incidental Mutation 'R7946:Caprin1'
| ID |
649331 |
| 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 |
045991-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.591)
|
| Stock # |
R7946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103603093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 490
(V490E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028607]
[ENSMUST00000111147]
[ENSMUST00000145606]
|
| AlphaFold |
Q60865 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028607
AA Change: V490E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: V490E
| 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: V490E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: V490E
| 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 |
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 |
|
| SMART Domains |
Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184
AA Change: V11E
| 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 |
0.0910 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,398 (GRCm39) |
T1186A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Afap1 |
A |
G |
5: 36,092,995 (GRCm39) |
N33S |
probably benign |
Het |
| Afap1 |
G |
A |
5: 36,141,396 (GRCm39) |
|
probably null |
Het |
| Ampd3 |
A |
G |
7: 110,377,147 (GRCm39) |
D46G |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,707 (GRCm39) |
K246R |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,030,290 (GRCm39) |
V192M |
probably damaging |
Het |
| Aspscr1 |
T |
G |
11: 120,599,443 (GRCm39) |
S132A |
|
Het |
| Atp2b4 |
C |
A |
1: 133,658,320 (GRCm39) |
R530L |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,325 (GRCm39) |
V541A |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,643,627 (GRCm39) |
K734M |
probably damaging |
Het |
| Ccdc9b |
G |
T |
2: 118,590,146 (GRCm39) |
P233T |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,812,882 (GRCm39) |
K138R |
probably benign |
Het |
| Cela2a |
A |
G |
4: 141,549,617 (GRCm39) |
S53P |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,513,075 (GRCm39) |
|
probably null |
Het |
| Cntrob |
T |
C |
11: 69,206,047 (GRCm39) |
E373G |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,414,058 (GRCm39) |
Y2633H |
|
Het |
| Ctbp1 |
A |
T |
5: 33,407,688 (GRCm39) |
M296K |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,303,501 (GRCm39) |
Q1468K |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,272,739 (GRCm39) |
F2289S |
probably damaging |
Het |
| Fndc7 |
T |
A |
3: 108,779,452 (GRCm39) |
D364V |
possibly damaging |
Het |
| Ggt7 |
G |
T |
2: 155,347,892 (GRCm39) |
H180Q |
probably damaging |
Het |
| Gm14399 |
A |
T |
2: 174,973,273 (GRCm39) |
C161S |
probably damaging |
Het |
| Gm17324 |
T |
C |
9: 78,355,794 (GRCm39) |
T62A |
unknown |
Het |
| Gpr107 |
A |
G |
2: 31,078,716 (GRCm39) |
I384V |
probably damaging |
Het |
| Igsf10 |
C |
A |
3: 59,227,125 (GRCm39) |
V2183L |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,411,648 (GRCm39) |
H363L |
possibly damaging |
Het |
| Inka2 |
T |
A |
3: 105,623,761 (GRCm39) |
L45H |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,667,252 (GRCm39) |
I291N |
probably damaging |
Het |
| Kcnc3 |
A |
T |
7: 44,245,569 (GRCm39) |
T620S |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,466,571 (GRCm39) |
N571D |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,766,072 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,584,991 (GRCm39) |
N55S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,102,746 (GRCm39) |
D4509G |
probably damaging |
Het |
| Obox1 |
G |
T |
7: 15,289,456 (GRCm39) |
V82F |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,585,163 (GRCm39) |
M190L |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,703,053 (GRCm39) |
D179G |
probably benign |
Het |
| Or7e174 |
T |
C |
9: 20,012,780 (GRCm39) |
S242P |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,710,045 (GRCm39) |
N330I |
probably damaging |
Het |
| Phf21a |
A |
T |
2: 92,189,512 (GRCm39) |
E590D |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,574,287 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
T |
C |
9: 72,524,096 (GRCm39) |
Y429H |
probably damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,878,606 (GRCm39) |
A77E |
probably benign |
Het |
| Stra8 |
A |
G |
6: 34,907,816 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,200,919 (GRCm39) |
S3550P |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,657,693 (GRCm39) |
H249Q |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,107,969 (GRCm39) |
E22G |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,704 (GRCm39) |
|
probably null |
Het |
| Trim43b |
A |
G |
9: 88,973,538 (GRCm39) |
I65T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,739 (GRCm39) |
M640T |
possibly damaging |
Het |
| Vegfa |
A |
T |
17: 46,336,377 (GRCm39) |
Y248N |
probably damaging |
Het |
| Vmn1r172 |
T |
G |
7: 23,358,857 (GRCm39) |
|
probably null |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,834 (GRCm39) |
V185F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Wdfy4 |
T |
C |
14: 32,792,705 (GRCm39) |
K2114E |
|
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 |
|
|
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 |
|
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'- AATCTTCTAACCTTTGGAGTAAAGC -3'
(R):5'- CAAGCATCAGTTGGCATGG -3'
Sequencing Primer
(F):5'- AGGCTCAAATATACTACTAAAAAGCC -3'
(R):5'- AGTTGGCATGGTACTTTATAAATGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation