Incidental Mutation 'R8547:Caprin1'
| ID |
659670 |
| 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 |
068512-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.591)
|
| Stock # |
R8547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103599862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 604
(N604K)
|
| 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: N604K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: N604K
| 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: N604K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: N604K
| 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: N125K
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,474 (GRCm39) |
V972A |
probably benign |
Het |
| Adamts14 |
T |
G |
10: 61,106,998 (GRCm39) |
T41P |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,077,621 (GRCm39) |
T102I |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,109 (GRCm39) |
I366V |
probably null |
Het |
| Aldh1a7 |
A |
G |
19: 20,692,067 (GRCm39) |
V242A |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,829 (GRCm39) |
S1280P |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,412,305 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,345,725 (GRCm39) |
E957G |
probably damaging |
Het |
| Ccn6 |
T |
A |
10: 39,027,194 (GRCm39) |
D346V |
probably damaging |
Het |
| Cd28 |
G |
A |
1: 60,785,681 (GRCm39) |
V17I |
probably benign |
Het |
| Cfl2 |
A |
T |
12: 54,908,398 (GRCm39) |
L75* |
probably null |
Het |
| Clspn |
T |
A |
4: 126,455,609 (GRCm39) |
L45H |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,479,305 (GRCm39) |
|
probably null |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
T |
10: 128,556,881 (GRCm39) |
I663N |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,993,249 (GRCm39) |
V1211I |
probably benign |
Het |
| Fam193b |
A |
G |
13: 55,698,117 (GRCm39) |
S280P |
probably damaging |
Het |
| Fgd2 |
C |
T |
17: 29,583,934 (GRCm39) |
A116V |
probably damaging |
Het |
| Fmo5 |
C |
A |
3: 97,558,811 (GRCm39) |
Q424K |
probably benign |
Het |
| Fn3k |
T |
C |
11: 121,340,987 (GRCm39) |
L214P |
probably damaging |
Het |
| Gm3404 |
A |
T |
5: 146,465,108 (GRCm39) |
R283W |
possibly damaging |
Het |
| Gtdc1 |
A |
G |
2: 44,678,993 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
T |
C |
9: 37,279,049 (GRCm39) |
I26T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,152,291 (GRCm39) |
F596L |
probably damaging |
Het |
| Ipo7 |
T |
G |
7: 109,652,000 (GRCm39) |
D926E |
probably benign |
Het |
| Krt16 |
G |
A |
11: 100,137,083 (GRCm39) |
Q463* |
probably null |
Het |
| Lats1 |
T |
C |
10: 7,588,613 (GRCm39) |
F1077L |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,704,014 (GRCm39) |
I269V |
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,273,685 (GRCm39) |
E382K |
possibly damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,446 (GRCm39) |
C23S |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,184,811 (GRCm39) |
C962R |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,583,391 (GRCm39) |
L435P |
probably damaging |
Het |
| Or10d4c |
C |
T |
9: 39,558,798 (GRCm39) |
Q259* |
probably null |
Het |
| Or1e23 |
T |
C |
11: 73,407,440 (GRCm39) |
N195S |
probably damaging |
Het |
| Potegl |
A |
T |
2: 23,120,135 (GRCm39) |
Y177F |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,761,630 (GRCm39) |
V144A |
possibly damaging |
Het |
| Psmg2 |
T |
A |
18: 67,779,077 (GRCm39) |
S82T |
possibly damaging |
Het |
| Ptcd2 |
A |
C |
13: 99,469,462 (GRCm39) |
F154V |
probably damaging |
Het |
| Ptchd4 |
A |
C |
17: 42,813,512 (GRCm39) |
D471A |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,315,674 (GRCm39) |
T309I |
possibly damaging |
Het |
| Runx3 |
T |
C |
4: 134,898,455 (GRCm39) |
F209L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,676 (GRCm39) |
|
probably benign |
Het |
| Slc35g3 |
T |
C |
11: 69,652,446 (GRCm39) |
E22G |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,013,647 (GRCm39) |
M1303K |
possibly damaging |
Het |
| Ssh2 |
T |
A |
11: 77,340,533 (GRCm39) |
S562T |
probably benign |
Het |
| Tiparp |
T |
C |
3: 65,453,798 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
C |
T |
9: 103,213,264 (GRCm39) |
P1028L |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,975,840 (GRCm39) |
L833Q |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,311 (GRCm39) |
Y342C |
probably damaging |
Het |
| Vmn2r95 |
G |
A |
17: 18,664,161 (GRCm39) |
C460Y |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,852,848 (GRCm39) |
I2376N |
probably damaging |
Het |
| Zbtb21 |
C |
A |
16: 97,753,315 (GRCm39) |
A351S |
possibly damaging |
Het |
| Zzef1 |
T |
G |
11: 72,735,267 (GRCm39) |
Y623D |
probably 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 |
|
|
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 |
|
|
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'- TGCAGAGAAGTAATTCGTTCCC -3'
(R):5'- GCAGAACATTTCGTATAGTTCAGG -3'
Sequencing Primer
(F):5'- TTCGTTCCCAAAATTCTGAGACAC -3'
(R):5'- CGTATAGTTCAGGAAGTATGTGGGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation