Incidental Mutation 'R6603:Caprin1'
| ID |
525410 |
| 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 |
044726-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.591)
|
| Stock # |
R6603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103593292-103627946 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103605856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 377
(D377E)
|
| 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: D377E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: D377E
| 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: D377E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: D377E
| 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: D189E
|
| SMART Domains |
Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184
AA Change: D189E
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149175
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
T |
8: 25,155,518 (GRCm39) |
F167Y |
possibly damaging |
Het |
| Ap3d1 |
A |
G |
10: 80,549,881 (GRCm39) |
S755P |
probably benign |
Het |
| Aph1a |
A |
T |
3: 95,802,808 (GRCm39) |
N136I |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,686,046 (GRCm39) |
N207K |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,899,811 (GRCm39) |
|
probably null |
Het |
| Ddi2 |
T |
C |
4: 141,411,181 (GRCm39) |
N577S |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,704,624 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
A |
T |
7: 130,648,240 (GRCm39) |
|
probably null |
Het |
| Fam13a |
T |
C |
6: 58,964,174 (GRCm39) |
K86R |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxl8 |
A |
T |
8: 105,994,842 (GRCm39) |
D118V |
probably damaging |
Het |
| Garin5b |
G |
A |
7: 4,761,431 (GRCm39) |
P427L |
possibly damaging |
Het |
| Git2 |
C |
A |
5: 114,869,052 (GRCm39) |
|
probably null |
Het |
| Gm17190 |
T |
G |
13: 96,218,770 (GRCm39) |
D35E |
possibly damaging |
Het |
| Gnb4 |
C |
T |
3: 32,639,295 (GRCm39) |
D333N |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,968 (GRCm39) |
D249V |
probably damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,141 (GRCm39) |
S94P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,248,669 (GRCm39) |
I1029T |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,391,544 (GRCm39) |
I44T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,849,890 (GRCm39) |
|
probably null |
Het |
| Lonrf1 |
T |
A |
8: 36,690,095 (GRCm39) |
R654S |
probably damaging |
Het |
| Lrrc49 |
A |
C |
9: 60,501,052 (GRCm39) |
|
probably null |
Het |
| Miip |
T |
G |
4: 147,950,380 (GRCm39) |
K72T |
possibly damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,419 (GRCm39) |
P782S |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,322 (GRCm39) |
T266A |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,446,931 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
A |
T |
2: 154,396,842 (GRCm39) |
N46K |
probably damaging |
Het |
| Or51a8 |
A |
T |
7: 102,549,621 (GRCm39) |
I16F |
probably benign |
Het |
| Phtf1 |
C |
T |
3: 103,901,189 (GRCm39) |
R360C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,145 (GRCm39) |
I385V |
probably benign |
Het |
| Prmt8 |
A |
T |
6: 127,706,376 (GRCm39) |
F138L |
probably benign |
Het |
| Prpf40a |
T |
G |
2: 53,042,975 (GRCm39) |
R436S |
probably damaging |
Het |
| Rab27b |
T |
A |
18: 70,118,375 (GRCm39) |
I181F |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,792,310 (GRCm39) |
E87G |
probably damaging |
Het |
| Scrib |
T |
A |
15: 75,934,572 (GRCm39) |
T674S |
probably benign |
Het |
| Slc9a4 |
A |
G |
1: 40,662,664 (GRCm39) |
S644G |
probably benign |
Het |
| Slc9a9 |
G |
A |
9: 94,821,599 (GRCm39) |
A329T |
probably damaging |
Het |
| Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
| Sox7 |
T |
A |
14: 64,185,637 (GRCm39) |
H224Q |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,070,479 (GRCm39) |
S876P |
probably damaging |
Het |
| Syndig1 |
G |
A |
2: 149,845,208 (GRCm39) |
V244M |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,421 (GRCm39) |
I150L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,168,343 (GRCm39) |
Y295C |
probably damaging |
Het |
| Tmem59l |
G |
A |
8: 70,939,006 (GRCm39) |
P56L |
probably benign |
Het |
| Tnfrsf8 |
A |
T |
4: 145,019,168 (GRCm39) |
D222E |
possibly damaging |
Het |
| Trim52 |
T |
C |
14: 106,344,483 (GRCm39) |
L47P |
probably damaging |
Het |
| Ttc34 |
T |
A |
4: 154,923,762 (GRCm39) |
I157K |
probably benign |
Het |
| Txndc16 |
A |
G |
14: 45,389,224 (GRCm39) |
F492S |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,897 (GRCm39) |
I428V |
probably benign |
Het |
| Vmn2r41 |
T |
A |
7: 8,141,359 (GRCm39) |
I702F |
probably damaging |
Het |
| Wdr12 |
T |
A |
1: 60,121,783 (GRCm39) |
H256L |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,888 (GRCm39) |
H3043R |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,270,459 (GRCm39) |
Q500* |
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,475 (GRCm39) |
N38S |
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 |
|
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'- ACCGGGTACTCGTGTACTAAG -3'
(R):5'- TTGACTCCAGTGGCTCAGTC -3'
Sequencing Primer
(F):5'- GTACTCGTGTACTAAGTTGTTCAGAC -3'
(R):5'- CTCAGTCAGATCCACTTGTGAGAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation