Incidental Mutation 'R8128:Caprin2'
ID |
652003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Caprin2
|
Ensembl Gene |
ENSMUSG00000030309 |
Gene Name |
caprin family member 2 |
Synonyms |
RNG140, C1qdc1, Eeg1 |
MMRRC Submission |
067557-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8128 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
148743990-148797735 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 148784940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072324]
[ENSMUST00000111569]
[ENSMUST00000139914]
|
AlphaFold |
Q05A80 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072324
|
SMART Domains |
Protein: ENSMUSP00000072165 Gene: ENSMUSG00000030309
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
|
SMART Domains |
Protein: ENSMUSP00000107195 Gene: ENSMUSG00000030309
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 null
Transcript: ENSMUST00000139914
|
SMART Domains |
Protein: ENSMUSP00000121685 Gene: ENSMUSG00000030309
Domain | Start | End | E-Value | Type |
coiled coil region
|
48 |
94 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.6%
|
Validation Efficiency |
98% (42/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 9,008,395 (GRCm39) |
R1188G |
probably damaging |
Het |
Abcc5 |
G |
A |
16: 20,184,473 (GRCm39) |
R1036C |
probably damaging |
Het |
Arhgap22 |
T |
A |
14: 33,089,042 (GRCm39) |
F508I |
probably benign |
Het |
Bahcc1 |
C |
T |
11: 120,163,216 (GRCm39) |
Q505* |
probably null |
Het |
Birc6 |
T |
A |
17: 74,916,253 (GRCm39) |
L1723Q |
probably damaging |
Het |
Cfap69 |
C |
A |
5: 5,646,034 (GRCm39) |
M555I |
probably benign |
Het |
Cgn |
C |
T |
3: 94,676,691 (GRCm39) |
A773T |
probably benign |
Het |
Cnot7 |
A |
G |
8: 40,963,129 (GRCm39) |
V15A |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,784,789 (GRCm39) |
R206G |
unknown |
Het |
Dscam |
C |
A |
16: 96,602,374 (GRCm39) |
|
probably null |
Het |
Eif3k |
A |
T |
7: 28,679,742 (GRCm39) |
|
probably benign |
Het |
Epn2 |
G |
T |
11: 61,413,321 (GRCm39) |
|
probably null |
Het |
Fitm2 |
T |
C |
2: 163,311,568 (GRCm39) |
D215G |
probably benign |
Het |
Foxa3 |
A |
T |
7: 18,757,341 (GRCm39) |
M1K |
probably null |
Het |
Glyctk |
T |
C |
9: 106,032,501 (GRCm39) |
H504R |
probably benign |
Het |
Grin3b |
T |
C |
10: 79,812,944 (GRCm39) |
L394P |
|
Het |
Hgh1 |
A |
G |
15: 76,254,581 (GRCm39) |
Y319C |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,117,622 (GRCm39) |
T635A |
probably benign |
Het |
Igsf3 |
T |
A |
3: 101,346,947 (GRCm39) |
N627K |
probably damaging |
Het |
Lmtk3 |
G |
T |
7: 45,443,598 (GRCm39) |
M760I |
|
Het |
Lrp1b |
G |
A |
2: 41,159,248 (GRCm39) |
A1678V |
probably null |
Het |
Lrrc8c |
A |
T |
5: 105,755,488 (GRCm39) |
N421I |
probably damaging |
Het |
Mfsd13b |
C |
A |
7: 120,590,495 (GRCm39) |
R79S |
possibly damaging |
Het |
Or1q1 |
A |
T |
2: 36,887,673 (GRCm39) |
M284L |
probably benign |
Het |
Or5p50 |
A |
C |
7: 107,422,632 (GRCm39) |
F15V |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,764,234 (GRCm39) |
T426A |
possibly damaging |
Het |
Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,361,449 (GRCm39) |
I500F |
possibly damaging |
Het |
Polr3gl |
T |
A |
3: 96,487,824 (GRCm39) |
|
probably null |
Het |
Psmg3 |
A |
G |
5: 139,809,788 (GRCm39) |
V86A |
probably damaging |
Het |
Ptgs2 |
T |
A |
1: 149,977,099 (GRCm39) |
V102E |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,583,032 (GRCm39) |
|
probably null |
Het |
Scand1 |
T |
C |
2: 156,153,961 (GRCm39) |
D103G |
probably damaging |
Het |
Serpinb6d |
T |
C |
13: 33,850,383 (GRCm39) |
I70T |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 73,934,049 (GRCm39) |
S708T |
probably damaging |
Het |
Sprr2d |
G |
A |
3: 92,247,760 (GRCm39) |
C67Y |
unknown |
Het |
Taf2 |
G |
A |
15: 54,923,384 (GRCm39) |
R298C |
probably damaging |
Het |
Trafd1 |
G |
T |
5: 121,510,465 (GRCm39) |
P567Q |
possibly damaging |
Het |
Trim32 |
A |
G |
4: 65,531,682 (GRCm39) |
N80D |
probably damaging |
Het |
Vmn1r193 |
A |
G |
13: 22,403,113 (GRCm39) |
L293S |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,239,747 (GRCm39) |
M272K |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,954,155 (GRCm39) |
L773Q |
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 |
R8083:Caprin2
|
UTSW |
6 |
148,744,346 (GRCm39) |
nonsense |
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'- ACTTAGCTAGCTGGGTGGAG -3'
(R):5'- GCAGGGGAATCACAAGTTTG -3'
Sequencing Primer
(F):5'- AGATCTCTGGGCCAGACTGTC -3'
(R):5'- TACGGGTAACTAACTGCCTGATG -3'
|
Posted On |
2020-09-18 |