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) question?
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

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 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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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