Incidental Mutation 'R8083:Caprin2'
| ID |
629466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caprin2
|
| Ensembl Gene |
ENSMUSG00000030309 |
| Gene Name |
caprin family member 2 |
| Synonyms |
RNG140, C1qdc1, Eeg1 |
| MMRRC Submission |
067516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8083 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to C
at 148744346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1026
(Y1026*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
|
| AlphaFold |
Q05A80 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072324
AA Change: Y807*
|
| SMART Domains |
Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: Y807*
| 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 null
Transcript: ENSMUST00000111569
AA Change: Y1026*
|
| SMART Domains |
Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: Y1026*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
G |
2: 152,282,987 (GRCm39) |
E255G |
possibly damaging |
Het |
| Abcg5 |
A |
T |
17: 84,965,971 (GRCm39) |
L635Q |
probably damaging |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,711 (GRCm39) |
V126M |
possibly damaging |
Het |
| Apobec1 |
G |
A |
6: 122,555,888 (GRCm39) |
P190S |
probably damaging |
Het |
| Arel1 |
A |
T |
12: 84,987,136 (GRCm39) |
H93Q |
probably benign |
Het |
| Bpifa2 |
T |
G |
2: 153,852,412 (GRCm39) |
V96G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,023,529 (GRCm39) |
V923I |
possibly damaging |
Het |
| Cdk8 |
T |
G |
5: 146,205,100 (GRCm39) |
W34G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,000,058 (GRCm39) |
Q28L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,971,957 (GRCm39) |
E629G |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,691,630 (GRCm39) |
C255S |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,294,427 (GRCm39) |
F445L |
possibly damaging |
Het |
| Cpne6 |
A |
C |
14: 55,750,698 (GRCm39) |
I140L |
probably benign |
Het |
| Cyp2b23 |
C |
A |
7: 26,385,828 (GRCm39) |
A10S |
possibly damaging |
Het |
| Eci3 |
G |
T |
13: 35,140,873 (GRCm39) |
T103K |
probably benign |
Het |
| Eri3 |
T |
A |
4: 117,450,359 (GRCm39) |
M253K |
probably damaging |
Het |
| Gm21103 |
C |
T |
14: 17,482,895 (GRCm39) |
V169M |
possibly damaging |
Het |
| Gm6594 |
G |
A |
17: 82,846,897 (GRCm39) |
A71T |
probably benign |
Het |
| Gns |
T |
C |
10: 121,214,008 (GRCm39) |
S228P |
probably damaging |
Het |
| Hbegf |
A |
T |
18: 36,648,224 (GRCm39) |
S46T |
probably benign |
Het |
| Hcn1 |
GCAACAACA |
GCAACAACAACA |
13: 118,112,296 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,057,875 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,524,320 (GRCm39) |
D846G |
probably benign |
Het |
| Nt5dc2 |
A |
G |
14: 30,856,783 (GRCm39) |
Y103C |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,943,572 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,970 (GRCm39) |
I146V |
probably benign |
Het |
| Rangap1 |
A |
G |
15: 81,603,101 (GRCm39) |
I108T |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,409 (GRCm39) |
Y794H |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,892,052 (GRCm39) |
S192P |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,448,166 (GRCm39) |
D3404V |
possibly damaging |
Het |
| Setd5 |
G |
T |
6: 113,091,971 (GRCm39) |
G264V |
probably damaging |
Het |
| Tagln2 |
A |
T |
1: 172,332,766 (GRCm39) |
I18F |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,591,807 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
C |
A |
2: 94,204,909 (GRCm39) |
V338F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,339,043 (GRCm39) |
M428K |
possibly damaging |
Het |
| Zfp503 |
A |
T |
14: 22,036,132 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,905 (GRCm39) |
T218A |
possibly damaging |
Het |
| Zp3 |
A |
C |
5: 136,013,376 (GRCm39) |
D236A |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGCTGTGTGACTAGCAAGG -3'
(R):5'- CCACTGTATGTCAACCTGATGAAG -3'
Sequencing Primer
(F):5'- CTGTGTGACTAGCAAGGCTACATC -3'
(R):5'- TGTATGTCAACCTGATGAAGAATGAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation