Incidental Mutation 'IGL00236:Caprin2'
| ID |
2366 |
| 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 # |
IGL00236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148744569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 952
(I952T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
|
| AlphaFold |
Q05A80 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072324
AA Change: I733T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: I733T
| 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: I952T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: I952T
| 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: ENSMUST00000127941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203014
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh1 |
A |
G |
12: 87,490,467 (GRCm39) |
V43A |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,381,787 (GRCm39) |
S2460T |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,870,201 (GRCm39) |
L176P |
probably damaging |
Het |
| Cdkl4 |
A |
T |
17: 80,832,705 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,227,767 (GRCm39) |
L156P |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,905,880 (GRCm39) |
L90S |
probably benign |
Het |
| Efhb |
T |
C |
17: 53,769,481 (GRCm39) |
D276G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,525,619 (GRCm39) |
D1481G |
unknown |
Het |
| Fam83b |
T |
C |
9: 76,398,260 (GRCm39) |
I948V |
probably benign |
Het |
| Fbxl5 |
G |
T |
5: 43,922,678 (GRCm39) |
H247N |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,692,032 (GRCm39) |
I37T |
probably benign |
Het |
| Hfe |
C |
T |
13: 23,889,835 (GRCm39) |
|
probably benign |
Het |
| Ighv1-36 |
A |
T |
12: 114,843,770 (GRCm39) |
L29Q |
possibly damaging |
Het |
| Inpp5e |
G |
T |
2: 26,298,533 (GRCm39) |
Q23K |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,808,983 (GRCm39) |
S619P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Or51s1 |
T |
C |
7: 102,558,479 (GRCm39) |
H189R |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,903 (GRCm39) |
I143F |
probably benign |
Het |
| Pard6a |
T |
C |
8: 106,429,446 (GRCm39) |
S135P |
probably damaging |
Het |
| Prss43 |
G |
T |
9: 110,658,538 (GRCm39) |
Q279H |
probably benign |
Het |
| Ptcd2 |
T |
C |
13: 99,466,573 (GRCm39) |
N207D |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,070,986 (GRCm39) |
I23V |
probably benign |
Het |
| Scg5 |
A |
G |
2: 113,657,915 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,347 (GRCm39) |
K212* |
probably null |
Het |
| Slc25a30 |
C |
T |
14: 76,004,365 (GRCm39) |
G244D |
possibly damaging |
Het |
| Slc38a10 |
T |
C |
11: 119,997,428 (GRCm39) |
R689G |
probably damaging |
Het |
| Spatc1 |
A |
G |
15: 76,168,994 (GRCm39) |
D321G |
probably damaging |
Het |
| Stat4 |
A |
T |
1: 52,142,037 (GRCm39) |
Y628F |
probably damaging |
Het |
| Wdr35 |
G |
A |
12: 9,069,900 (GRCm39) |
V813I |
probably benign |
Het |
|
| Other mutations in Caprin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-12-09 |
Incidental Mutation