Incidental Mutation 'IGL03123:Caprin2'
| ID |
410040 |
| 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 # |
IGL03123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 148796505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 36
(A36E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
[ENSMUST00000139914]
|
| AlphaFold |
Q05A80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072324
AA Change: A36E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: A36E
| 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 damaging
Transcript: ENSMUST00000111569
AA Change: A36E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: A36E
| 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 |
noncoding transcript
Transcript: ENSMUST00000122909
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139914
AA Change: A36E
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000121685
Gene: ENSMUSG00000030309
AA Change: A36E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
48 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204942
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205074
|
| 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 |
|---|
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,044,110 (GRCm39) |
V112A |
probably benign |
Het |
| Castor1 |
A |
T |
11: 4,170,278 (GRCm39) |
T119S |
probably damaging |
Het |
| Dnase1l2 |
T |
C |
17: 24,661,226 (GRCm39) |
M28V |
possibly damaging |
Het |
| Eci1 |
T |
A |
17: 24,655,300 (GRCm39) |
|
probably null |
Het |
| Edil3 |
T |
A |
13: 89,279,855 (GRCm39) |
S178T |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,479,085 (GRCm39) |
|
probably null |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,547 (GRCm39) |
E12G |
probably damaging |
Het |
| Frmd7 |
G |
A |
X: 49,984,835 (GRCm39) |
T445I |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,365,953 (GRCm39) |
E344G |
probably damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,812 (GRCm39) |
Y57H |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,909,171 (GRCm39) |
I81V |
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Htra3 |
C |
T |
5: 35,823,477 (GRCm39) |
V280I |
probably damaging |
Het |
| Impg2 |
G |
T |
16: 56,087,485 (GRCm39) |
E992D |
probably damaging |
Het |
| Kctd4 |
T |
C |
14: 76,200,418 (GRCm39) |
W130R |
possibly damaging |
Het |
| Kdm3b |
T |
A |
18: 34,942,544 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,759,652 (GRCm39) |
T1202M |
unknown |
Het |
| Lrp11 |
A |
T |
10: 7,478,689 (GRCm39) |
D326V |
probably damaging |
Het |
| Lrrcc1 |
A |
T |
3: 14,601,144 (GRCm39) |
I59F |
probably damaging |
Het |
| Lyg2 |
G |
A |
1: 37,954,845 (GRCm39) |
|
probably benign |
Het |
| Med16 |
A |
G |
10: 79,732,667 (GRCm39) |
V699A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 113,022,804 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,531,767 (GRCm39) |
T744A |
probably damaging |
Het |
| Or1e1f |
T |
A |
11: 73,855,812 (GRCm39) |
I126N |
probably damaging |
Het |
| Oser1 |
A |
T |
2: 163,253,309 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,952,966 (GRCm39) |
V80A |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,100,539 (GRCm39) |
G1857D |
possibly damaging |
Het |
| Pitpnc1 |
C |
T |
11: 107,228,237 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,102,844 (GRCm39) |
E137G |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,701,687 (GRCm39) |
W291R |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,465,050 (GRCm39) |
I314T |
probably benign |
Het |
| Rps2 |
C |
T |
17: 24,939,263 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,224 (GRCm39) |
K1148E |
probably damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,012,741 (GRCm39) |
D248G |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,368,681 (GRCm39) |
R352L |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,756,404 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,272 (GRCm39) |
C1217* |
probably null |
Het |
| Tbcb |
A |
G |
7: 29,926,261 (GRCm39) |
|
probably benign |
Het |
| Tinf2 |
T |
C |
14: 55,918,346 (GRCm39) |
D128G |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,515,218 (GRCm39) |
D332G |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,659,829 (GRCm39) |
F40L |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,196,475 (GRCm39) |
I1500L |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,884,827 (GRCm39) |
P25L |
probably benign |
Het |
| Wnt5a |
G |
T |
14: 28,244,882 (GRCm39) |
Q376H |
probably damaging |
Het |
| Zfp526 |
A |
C |
7: 24,924,049 (GRCm39) |
T103P |
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 |
|
IGL01364:Caprin2
|
APN |
6 |
148,774,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation