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 C1qdc1, Eeg1, RNG140
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00236
Quality Score
Status
Chromosome 6
Chromosomal Location 148842492-148896237 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148843071 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Prss43 G T 9: 110,829,470 Q279H probably benign Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Caprin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Caprin2 APN 6 148873028 missense probably benign 0.00
IGL02738:Caprin2 APN 6 148842862 missense probably damaging 1.00
IGL02819:Caprin2 APN 6 148848258 missense probably damaging 0.99
IGL03117:Caprin2 APN 6 148862466 missense possibly damaging 0.91
IGL03123:Caprin2 APN 6 148895007 missense probably damaging 1.00
IGL03378:Caprin2 APN 6 148877854 missense probably benign 0.23
R0242:Caprin2 UTSW 6 148842954 missense probably damaging 1.00
R0242:Caprin2 UTSW 6 148842954 missense probably damaging 1.00
R0621:Caprin2 UTSW 6 148858678 missense possibly damaging 0.94
R0930:Caprin2 UTSW 6 148883511 splice site probably null
R1540:Caprin2 UTSW 6 148876471 missense probably benign 0.01
R1591:Caprin2 UTSW 6 148873108 missense possibly damaging 0.94
R1763:Caprin2 UTSW 6 148843121 missense probably damaging 1.00
R1885:Caprin2 UTSW 6 148877885 splice site probably null
R2027:Caprin2 UTSW 6 148877887 missense probably damaging 0.98
R2867:Caprin2 UTSW 6 148846240 synonymous silent
R4856:Caprin2 UTSW 6 148873011 missense probably benign 0.19
R5580:Caprin2 UTSW 6 148858734 missense possibly damaging 0.79
R5696:Caprin2 UTSW 6 148877818 missense possibly damaging 0.49
R5765:Caprin2 UTSW 6 148843168 missense probably damaging 1.00
R5778:Caprin2 UTSW 6 148869322 missense probably benign
R5961:Caprin2 UTSW 6 148863540 missense probably damaging 1.00
R6255:Caprin2 UTSW 6 148877892 missense probably benign 0.28
R6440:Caprin2 UTSW 6 148869645 missense probably damaging 1.00
R6997:Caprin2 UTSW 6 148877976 missense probably damaging 1.00
R7034:Caprin2 UTSW 6 148848205 missense possibly damaging 0.64
R7344:Caprin2 UTSW 6 148873067 missense probably benign 0.02
R7632:Caprin2 UTSW 6 148883456 missense probably damaging 1.00
R7808:Caprin2 UTSW 6 148843030 missense probably damaging 1.00
R8075:Caprin2 UTSW 6 148869092 missense probably benign 0.03
R8083:Caprin2 UTSW 6 148842848 nonsense probably null
R8128:Caprin2 UTSW 6 148883442 splice site probably null
R8393:Caprin2 UTSW 6 148869152 missense probably benign 0.01
R8839:Caprin2 UTSW 6 148873027 missense probably benign 0.00
R9041:Caprin2 UTSW 6 148869532 missense probably benign 0.03
R9188:Caprin2 UTSW 6 148865924 missense probably benign
R9234:Caprin2 UTSW 6 148842839 nonsense probably null
R9587:Caprin2 UTSW 6 148869002 missense probably benign
R9605:Caprin2 UTSW 6 148842834 missense probably damaging 1.00
Posted On 2011-12-09