Incidental Mutation 'R0621:Caprin2'
| ID |
58666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Caprin2
|
| Ensembl Gene |
ENSMUSG00000030309 |
| Gene Name |
caprin family member 2 |
| Synonyms |
RNG140, C1qdc1, Eeg1 |
| MMRRC Submission |
038810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 148760176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 425
(S425T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
|
| AlphaFold |
Q05A80 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072324
AA Change: S425T
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: S425T
| 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: S644T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: S644T
| 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: ENSMUST00000154971
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
C |
11: 76,399,898 (GRCm39) |
D33G |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,748,359 (GRCm39) |
S520T |
probably damaging |
Het |
| Afg2a |
C |
T |
3: 37,486,178 (GRCm39) |
T300I |
probably benign |
Het |
| Ankrd40 |
A |
G |
11: 94,230,433 (GRCm39) |
|
probably null |
Het |
| Aph1b |
A |
T |
9: 66,686,616 (GRCm39) |
I177K |
possibly damaging |
Het |
| Armc3 |
A |
T |
2: 19,300,204 (GRCm39) |
N579I |
probably damaging |
Het |
| Atxn7l1 |
T |
C |
12: 33,376,099 (GRCm39) |
V131A |
probably benign |
Het |
| C130073F10Rik |
A |
G |
4: 101,747,992 (GRCm39) |
Y61H |
probably damaging |
Het |
| C1s2 |
A |
T |
6: 124,608,071 (GRCm39) |
L214Q |
probably damaging |
Het |
| Cdc42ep4 |
G |
A |
11: 113,619,522 (GRCm39) |
R290C |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,404,825 (GRCm39) |
T352A |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,990 (GRCm39) |
F1161L |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,113,809 (GRCm39) |
|
probably null |
Het |
| Ddx24 |
T |
C |
12: 103,391,817 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
C |
A |
18: 20,412,752 (GRCm39) |
A591D |
possibly damaging |
Het |
| Efnb3 |
T |
C |
11: 69,446,798 (GRCm39) |
D304G |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
| Eya3 |
T |
G |
4: 132,422,113 (GRCm39) |
D275E |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,000,929 (GRCm39) |
Q272K |
probably benign |
Het |
| Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
| Gm9637 |
G |
A |
14: 19,402,011 (GRCm38) |
|
noncoding transcript |
Het |
| Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
| Gtf2h2 |
A |
T |
13: 100,625,433 (GRCm39) |
L61Q |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
| Hoxb3 |
A |
T |
11: 96,236,789 (GRCm39) |
Y289F |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,713,538 (GRCm39) |
R399Q |
probably damaging |
Het |
| Kif26b |
C |
G |
1: 178,743,218 (GRCm39) |
P1105A |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,285,585 (GRCm39) |
T369M |
probably damaging |
Het |
| Lipo2 |
C |
T |
19: 33,708,339 (GRCm39) |
G225D |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,274,327 (GRCm39) |
K6350E |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,232,058 (GRCm39) |
N446T |
probably damaging |
Het |
| Nos1ap |
T |
C |
1: 170,146,150 (GRCm39) |
D468G |
probably damaging |
Het |
| Or10j2 |
C |
T |
1: 173,098,242 (GRCm39) |
P167S |
possibly damaging |
Het |
| Or11h7 |
G |
A |
14: 50,891,419 (GRCm39) |
G242R |
possibly damaging |
Het |
| Or4a77 |
C |
A |
2: 89,487,459 (GRCm39) |
E109* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,195,725 (GRCm39) |
L137P |
probably damaging |
Het |
| Ppm1f |
G |
A |
16: 16,733,172 (GRCm39) |
R233Q |
probably benign |
Het |
| Rtf2 |
C |
A |
2: 172,308,216 (GRCm39) |
A205E |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,985,629 (GRCm39) |
F359S |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc39a11 |
G |
A |
11: 113,354,905 (GRCm39) |
P108L |
probably benign |
Het |
| Slc6a5 |
G |
A |
7: 49,567,113 (GRCm39) |
|
probably null |
Het |
| Snph |
C |
T |
2: 151,435,642 (GRCm39) |
V360M |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,223,651 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,759,408 (GRCm39) |
|
probably null |
Het |
| St8sia6 |
T |
A |
2: 13,662,093 (GRCm39) |
N246I |
probably damaging |
Het |
| Thy1 |
T |
A |
9: 43,958,030 (GRCm39) |
F53I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,317,387 (GRCm39) |
Y421* |
probably null |
Het |
| Ttc21b |
C |
T |
2: 66,056,355 (GRCm39) |
R677Q |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,252 (GRCm39) |
I602F |
probably benign |
Het |
| Wdr17 |
C |
A |
8: 55,096,226 (GRCm39) |
G1016C |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,953,486 (GRCm39) |
E182G |
possibly damaging |
Het |
| Zfp597 |
A |
G |
16: 3,684,228 (GRCm39) |
I176T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAGTACCAAAGCTAGGTGTGG -3'
(R):5'- GGAAGTTGAGAACCCCTTGTGTGAC -3'
Sequencing Primer
(F):5'- TGGGAGAAACCTCAGCTTGC -3'
(R):5'- GTAAGCAAACGCTGCTCTCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation