Incidental Mutation 'IGL02260:Caprin1'
ID286690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Caprin1
Ensembl Gene ENSMUSG00000027184
Gene Namecell cycle associated protein 1
Synonymscaprin-1, RNG105, MMGPIP137, Gpiap1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.897) question?
Stock #IGL02260
Quality Score
Status
Chromosome2
Chromosomal Location103762941-103797649 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103779369 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 188 (Y188C)
Ref Sequence ENSEMBL: ENSMUSP00000106777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028607] [ENSMUST00000111147]
Predicted Effect probably damaging
Transcript: ENSMUST00000028607
AA Change: Y188C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: Y188C

DomainStartEndE-ValueType
low complexity region 2 43 N/A INTRINSIC
coiled coil region 52 93 N/A INTRINSIC
low complexity region 176 186 N/A INTRINSIC
low complexity region 271 280 N/A INTRINSIC
low complexity region 309 322 N/A INTRINSIC
low complexity region 326 335 N/A INTRINSIC
Pfam:Caprin-1_C 365 681 1.4e-173 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111147
AA Change: Y188C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: Y188C

DomainStartEndE-ValueType
low complexity region 2 43 N/A INTRINSIC
coiled coil region 52 93 N/A INTRINSIC
low complexity region 176 186 N/A INTRINSIC
low complexity region 271 280 N/A INTRINSIC
low complexity region 309 322 N/A INTRINSIC
low complexity region 326 335 N/A INTRINSIC
Pfam:Caprin-1_C 365 680 2.4e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141750
Predicted Effect probably benign
Transcript: ENSMUST00000143188
SMART Domains Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184

DomainStartEndE-ValueType
low complexity region 84 93 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
low complexity region 139 148 N/A INTRINSIC
Pfam:Caprin-1_C 178 254 4.2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155733
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased fetal size, bent posture, cyanosis, respiratory failure, and neonatal lethality with impaired neuronal network development and reduced dendritic localization of sodium potassium ATPase subunit isoform mRNAs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 C T 17: 57,447,891 A663V probably benign Het
Atg2b A T 12: 105,636,440 probably benign Het
B4galt6 T C 18: 20,700,747 I194V probably benign Het
Ccdc85a A G 11: 28,576,672 F284S possibly damaging Het
Ccdc88b A T 19: 6,855,349 probably benign Het
Cox18 C T 5: 90,217,525 V272I possibly damaging Het
Dars A T 1: 128,372,161 M362K probably benign Het
Ddi1 A T 9: 6,265,760 M203K probably benign Het
Dlg4 G A 11: 70,042,267 G500R probably damaging Het
Ebf3 G A 7: 137,206,190 P375S probably damaging Het
Eif5b T A 1: 38,045,456 L842M possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm5581 T C 6: 131,167,946 noncoding transcript Het
Mapk10 A T 5: 103,038,668 D29E probably benign Het
Mib2 C T 4: 155,661,171 R61H probably damaging Het
Mki67 A G 7: 135,701,968 S724P probably benign Het
Mtor T C 4: 148,538,301 I1946T probably damaging Het
Myh14 A G 7: 44,611,571 L1873P probably damaging Het
Myom1 C T 17: 71,108,315 Q1226* probably null Het
Neb A G 2: 52,205,656 L4858P probably damaging Het
Olfr1036 C A 2: 86,075,472 T244K possibly damaging Het
Olfr502 T C 7: 108,523,285 I222V probably benign Het
Olfr561 A T 7: 102,774,907 I128F probably damaging Het
Pcdhb14 C T 18: 37,450,033 H731Y probably benign Het
Prdm16 T C 4: 154,328,287 N1087S probably benign Het
Prdm2 C T 4: 143,134,587 G711D probably damaging Het
Proser1 G A 3: 53,478,944 G749D probably damaging Het
Ptch1 A T 13: 63,565,352 probably benign Het
Pus10 A T 11: 23,707,548 K233* probably null Het
Rasa2 A G 9: 96,544,319 Y825H probably benign Het
Tbcd T C 11: 121,603,278 F969S probably damaging Het
Tbp T A 17: 15,504,616 S133T probably damaging Het
Tnks C T 8: 34,842,983 G1062D probably damaging Het
Tnrc6b T A 15: 80,880,171 S625T probably damaging Het
Triobp T C 15: 78,966,362 S239P probably benign Het
Ubiad1 T C 4: 148,444,107 D115G probably benign Het
Uckl1 A G 2: 181,569,588 S483P probably damaging Het
Vill A G 9: 119,058,441 D91G probably benign Het
Wdr62 C A 7: 30,270,782 C200F probably damaging Het
Zfp341 G A 2: 154,642,049 C586Y possibly damaging Het
Zfp687 G A 3: 95,011,264 T399I possibly damaging Het
Zp1 G T 19: 10,916,714 probably benign Het
Zzz3 T A 3: 152,452,083 D263E probably benign Het
Other mutations in Caprin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Caprin1 APN 2 103775456 missense probably benign 0.00
IGL01369:Caprin1 APN 2 103768865 missense probably damaging 0.99
IGL02054:Caprin1 APN 2 103771798 unclassified probably null
IGL02526:Caprin1 APN 2 103775603 unclassified probably benign
IGL03405:Caprin1 APN 2 103779505 missense probably damaging 1.00
R0027:Caprin1 UTSW 2 103775580 unclassified probably benign
R0396:Caprin1 UTSW 2 103769569 missense probably damaging 0.99
R0603:Caprin1 UTSW 2 103796801 missense probably benign 0.01
R1406:Caprin1 UTSW 2 103775987 missense probably benign 0.39
R1406:Caprin1 UTSW 2 103775987 missense probably benign 0.39
R1558:Caprin1 UTSW 2 103775987 missense possibly damaging 0.75
R1657:Caprin1 UTSW 2 103769506 missense probably damaging 0.99
R2945:Caprin1 UTSW 2 103772809 missense probably benign 0.04
R3946:Caprin1 UTSW 2 103796766 missense probably damaging 0.99
R5208:Caprin1 UTSW 2 103769433 critical splice donor site probably null
R6108:Caprin1 UTSW 2 103776017 missense possibly damaging 0.93
R6603:Caprin1 UTSW 2 103775511 missense probably benign 0.01
R7247:Caprin1 UTSW 2 103779474 missense possibly damaging 0.63
R7338:Caprin1 UTSW 2 103779423 missense probably benign 0.01
Posted On2015-04-16