Incidental Mutation 'IGL02819:Caprin2'
ID |
360927 |
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 # |
IGL02819
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 148749756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 518
(V518A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
|
AlphaFold |
Q05A80 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072324
AA Change: V518A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072165 Gene: ENSMUSG00000030309 AA Change: V518A
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 |
possibly damaging
Transcript: ENSMUST00000111569
AA Change: V737A
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107195 Gene: ENSMUSG00000030309 AA Change: V737A
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 |
unknown
Transcript: ENSMUST00000127941
AA Change: V52A
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
C |
T |
13: 54,712,033 (GRCm39) |
|
probably benign |
Het |
Abcb8 |
T |
A |
5: 24,611,422 (GRCm39) |
N470K |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,223,329 (GRCm39) |
N1037Y |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,256,986 (GRCm39) |
|
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,597,524 (GRCm39) |
D983G |
possibly damaging |
Het |
Asf1a |
A |
G |
10: 53,483,920 (GRCm39) |
T118A |
probably benign |
Het |
Atp2a3 |
T |
C |
11: 72,868,033 (GRCm39) |
Y389H |
probably damaging |
Het |
Atp5f1b |
T |
C |
10: 127,919,821 (GRCm39) |
I63T |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Clcn2 |
C |
A |
16: 20,528,006 (GRCm39) |
E487* |
probably null |
Het |
Cog6 |
T |
A |
3: 52,916,966 (GRCm39) |
K184M |
probably damaging |
Het |
Cpn1 |
A |
G |
19: 43,956,907 (GRCm39) |
Y286H |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,277,624 (GRCm39) |
S448C |
probably damaging |
Het |
Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
Cys1 |
T |
C |
12: 24,717,169 (GRCm39) |
E132G |
possibly damaging |
Het |
Depdc7 |
T |
C |
2: 104,555,071 (GRCm39) |
M280V |
probably benign |
Het |
Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
Golga1 |
T |
A |
2: 38,929,090 (GRCm39) |
N318Y |
probably null |
Het |
Hsd3b6 |
A |
G |
3: 98,718,262 (GRCm39) |
V34A |
probably benign |
Het |
Krt9 |
A |
G |
11: 100,082,346 (GRCm39) |
I193T |
probably damaging |
Het |
Lama4 |
A |
T |
10: 38,902,565 (GRCm39) |
I180F |
possibly damaging |
Het |
Lamc1 |
T |
C |
1: 153,126,407 (GRCm39) |
T458A |
probably damaging |
Het |
Lin28b |
A |
T |
10: 45,346,155 (GRCm39) |
M1K |
probably null |
Het |
Myo16 |
T |
C |
8: 10,372,600 (GRCm39) |
C100R |
probably damaging |
Het |
Nt5c3 |
A |
T |
6: 56,860,718 (GRCm39) |
M279K |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,742,255 (GRCm39) |
Y1016C |
probably damaging |
Het |
Rpl6 |
A |
G |
5: 121,345,264 (GRCm39) |
|
probably benign |
Het |
Rpn2 |
G |
T |
2: 157,158,130 (GRCm39) |
|
probably null |
Het |
Rspry1 |
T |
C |
8: 95,380,884 (GRCm39) |
V396A |
probably benign |
Het |
Serpina3i |
C |
T |
12: 104,234,761 (GRCm39) |
T364I |
probably damaging |
Het |
Shprh |
A |
G |
10: 11,030,509 (GRCm39) |
K242R |
possibly damaging |
Het |
Slit3 |
A |
G |
11: 35,062,417 (GRCm39) |
N72S |
possibly damaging |
Het |
Syt17 |
G |
A |
7: 118,009,143 (GRCm39) |
|
probably benign |
Het |
Tatdn3 |
C |
A |
1: 190,787,541 (GRCm39) |
A114S |
probably benign |
Het |
Tjp2 |
A |
G |
19: 24,091,469 (GRCm39) |
V564A |
probably damaging |
Het |
Tmem117 |
T |
C |
15: 94,777,253 (GRCm39) |
|
probably benign |
Het |
Tnfrsf8 |
T |
C |
4: 144,995,703 (GRCm39) |
E452G |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,976,407 (GRCm39) |
D1147G |
probably damaging |
Het |
Traf6 |
T |
C |
2: 101,515,134 (GRCm39) |
S97P |
probably damaging |
Het |
Ttc28 |
A |
T |
5: 111,414,449 (GRCm39) |
E1321D |
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 |
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 |
2015-12-18 |