Incidental Mutation 'IGL01364:Caprin2'
ID |
75886 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Caprin2
|
Ensembl Gene |
ENSMUSG00000030309 |
Gene Name |
caprin family member 2 |
Synonyms |
RNG140, C1qdc1, Eeg1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01364
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 148774526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Isoleucine
at position 262
(S262I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
[ENSMUST00000139914]
|
AlphaFold |
Q05A80 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072324
AA Change: S262I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000072165 Gene: ENSMUSG00000030309 AA Change: S262I
Domain | Start | End | E-Value | Type |
coiled coil region
|
48 |
125 |
N/A |
INTRINSIC |
coiled coil region
|
239 |
264 |
N/A |
INTRINSIC |
Pfam:Caprin-1_C
|
317 |
618 |
1.2e-32 |
PFAM |
C1Q
|
676 |
812 |
1.27e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111569
AA Change: S262I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000107195 Gene: ENSMUSG00000030309 AA Change: S262I
Domain | Start | End | E-Value | Type |
coiled coil region
|
48 |
125 |
N/A |
INTRINSIC |
coiled coil region
|
239 |
264 |
N/A |
INTRINSIC |
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
Pfam:Caprin-1_C
|
536 |
836 |
2.9e-106 |
PFAM |
C1Q
|
895 |
1031 |
1.27e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139914
|
SMART Domains |
Protein: ENSMUSP00000121685 Gene: ENSMUSG00000030309
Domain | Start | End | E-Value | Type |
coiled coil region
|
48 |
94 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the caprin family. The encoded protein may function as an RNA-binding protein that induces the formation of RNA granules and plays an important role in brain function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
A |
4: 40,181,380 (GRCm39) |
|
probably null |
Het |
Acot6 |
T |
C |
12: 84,147,840 (GRCm39) |
V32A |
possibly damaging |
Het |
Aff3 |
A |
T |
1: 38,574,762 (GRCm39) |
L73I |
probably damaging |
Het |
Aldh1l2 |
C |
A |
10: 83,328,531 (GRCm39) |
D729Y |
probably damaging |
Het |
Alox15 |
T |
C |
11: 70,235,992 (GRCm39) |
Q525R |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,747,677 (GRCm39) |
Y320H |
probably benign |
Het |
Atxn3 |
C |
T |
12: 101,900,682 (GRCm39) |
|
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,612,653 (GRCm39) |
|
probably null |
Het |
Ccdc14 |
T |
A |
16: 34,543,583 (GRCm39) |
L647H |
probably damaging |
Het |
Cd300lf |
T |
C |
11: 115,017,176 (GRCm39) |
D49G |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,308,081 (GRCm39) |
T1280A |
probably benign |
Het |
Ddb1 |
T |
C |
19: 10,605,024 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 66,046,285 (GRCm39) |
Y88H |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,540,512 (GRCm39) |
T351A |
probably damaging |
Het |
Evi2b |
T |
A |
11: 79,407,449 (GRCm39) |
Y42F |
probably benign |
Het |
Fdps |
A |
T |
3: 89,001,577 (GRCm39) |
C274* |
probably null |
Het |
Flnb |
A |
C |
14: 7,934,562 (GRCm38) |
|
probably null |
Het |
Herc1 |
T |
A |
9: 66,306,643 (GRCm39) |
V917E |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,251,826 (GRCm39) |
Q854* |
probably null |
Het |
Hmgxb3 |
T |
C |
18: 61,279,506 (GRCm39) |
Y769C |
probably damaging |
Het |
Hps3 |
G |
T |
3: 20,057,469 (GRCm39) |
Q772K |
possibly damaging |
Het |
Ifnab |
T |
C |
4: 88,608,987 (GRCm39) |
S160G |
probably damaging |
Het |
Kalrn |
T |
C |
16: 34,082,999 (GRCm39) |
E652G |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,397,716 (GRCm39) |
L255S |
probably damaging |
Het |
Kbtbd7 |
T |
A |
14: 79,665,486 (GRCm39) |
D439E |
possibly damaging |
Het |
Kcnn4 |
T |
C |
7: 24,081,128 (GRCm39) |
F289L |
probably benign |
Het |
Mapk6 |
A |
C |
9: 75,296,072 (GRCm39) |
D475E |
possibly damaging |
Het |
Msh5 |
A |
G |
17: 35,247,745 (GRCm39) |
V825A |
possibly damaging |
Het |
Mst1 |
A |
G |
9: 107,958,800 (GRCm39) |
I111V |
probably benign |
Het |
Myo1h |
T |
A |
5: 114,486,500 (GRCm39) |
I586N |
probably damaging |
Het |
Or4k36 |
G |
T |
2: 111,146,015 (GRCm39) |
A64S |
probably damaging |
Het |
Panx1 |
C |
T |
9: 14,932,761 (GRCm39) |
V80M |
probably damaging |
Het |
Polr3b |
T |
A |
10: 84,531,533 (GRCm39) |
I803N |
probably benign |
Het |
Rasa4 |
T |
C |
5: 136,124,425 (GRCm39) |
V158A |
possibly damaging |
Het |
Rbp3 |
T |
A |
14: 33,676,145 (GRCm39) |
M31K |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,951,404 (GRCm39) |
K154E |
probably benign |
Het |
Sec24a |
A |
T |
11: 51,604,356 (GRCm39) |
|
probably null |
Het |
Sox5 |
C |
T |
6: 144,062,198 (GRCm39) |
M151I |
probably damaging |
Het |
Sun1 |
T |
A |
5: 139,220,496 (GRCm39) |
L290Q |
probably damaging |
Het |
Tm9sf2 |
T |
A |
14: 122,380,872 (GRCm39) |
I155N |
probably damaging |
Het |
Trmt9b |
A |
G |
8: 36,979,501 (GRCm39) |
K368R |
probably benign |
Het |
Tuft1 |
A |
G |
3: 94,542,810 (GRCm39) |
|
probably benign |
Het |
Ubash3b |
A |
G |
9: 40,929,311 (GRCm39) |
|
probably null |
Het |
Vwa1 |
A |
G |
4: 155,855,200 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 119,914,372 (GRCm39) |
E80G |
probably damaging |
Het |
Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
probably benign |
Het |
|
Other mutations in Caprin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Caprin2
|
APN |
6 |
148,744,569 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02738:Caprin2
|
APN |
6 |
148,744,360 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02819:Caprin2
|
APN |
6 |
148,749,756 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03117:Caprin2
|
APN |
6 |
148,763,964 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03123:Caprin2
|
APN |
6 |
148,796,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03378:Caprin2
|
APN |
6 |
148,779,352 (GRCm39) |
missense |
probably benign |
0.23 |
R0242:Caprin2
|
UTSW |
6 |
148,744,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Caprin2
|
UTSW |
6 |
148,744,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R0621:Caprin2
|
UTSW |
6 |
148,760,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0930:Caprin2
|
UTSW |
6 |
148,785,009 (GRCm39) |
splice site |
probably null |
|
R1540:Caprin2
|
UTSW |
6 |
148,777,969 (GRCm39) |
missense |
probably benign |
0.01 |
R1591:Caprin2
|
UTSW |
6 |
148,774,606 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1763:Caprin2
|
UTSW |
6 |
148,744,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Caprin2
|
UTSW |
6 |
148,779,383 (GRCm39) |
splice site |
probably null |
|
R2027:Caprin2
|
UTSW |
6 |
148,779,385 (GRCm39) |
missense |
probably damaging |
0.98 |
R2867:Caprin2
|
UTSW |
6 |
148,747,738 (GRCm39) |
synonymous |
silent |
|
R4856:Caprin2
|
UTSW |
6 |
148,774,509 (GRCm39) |
missense |
probably benign |
0.19 |
R5580:Caprin2
|
UTSW |
6 |
148,760,232 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5696:Caprin2
|
UTSW |
6 |
148,779,316 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5765:Caprin2
|
UTSW |
6 |
148,744,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R5778:Caprin2
|
UTSW |
6 |
148,770,820 (GRCm39) |
missense |
probably benign |
|
R5961:Caprin2
|
UTSW |
6 |
148,765,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R6255:Caprin2
|
UTSW |
6 |
148,779,390 (GRCm39) |
missense |
probably benign |
0.28 |
R6440:Caprin2
|
UTSW |
6 |
148,771,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6997:Caprin2
|
UTSW |
6 |
148,779,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7034:Caprin2
|
UTSW |
6 |
148,749,703 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7344:Caprin2
|
UTSW |
6 |
148,774,565 (GRCm39) |
missense |
probably benign |
0.02 |
R7632:Caprin2
|
UTSW |
6 |
148,784,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7808:Caprin2
|
UTSW |
6 |
148,744,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R8075:Caprin2
|
UTSW |
6 |
148,770,590 (GRCm39) |
missense |
probably benign |
0.03 |
R8083:Caprin2
|
UTSW |
6 |
148,744,346 (GRCm39) |
nonsense |
probably null |
|
R8128:Caprin2
|
UTSW |
6 |
148,784,940 (GRCm39) |
splice site |
probably null |
|
R8393:Caprin2
|
UTSW |
6 |
148,770,650 (GRCm39) |
missense |
probably benign |
0.01 |
R8839:Caprin2
|
UTSW |
6 |
148,774,525 (GRCm39) |
missense |
probably benign |
0.00 |
R9041:Caprin2
|
UTSW |
6 |
148,771,030 (GRCm39) |
missense |
probably benign |
0.03 |
R9188:Caprin2
|
UTSW |
6 |
148,767,422 (GRCm39) |
missense |
probably benign |
|
R9234:Caprin2
|
UTSW |
6 |
148,744,337 (GRCm39) |
nonsense |
probably null |
|
R9587:Caprin2
|
UTSW |
6 |
148,770,500 (GRCm39) |
missense |
probably benign |
|
R9605:Caprin2
|
UTSW |
6 |
148,744,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |