Incidental Mutation 'IGL01369:Caprin1'
ID76070
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: 0.864) question?
Stock #IGL01369
Quality Score
Status
Chromosome2
Chromosomal Location103762941-103797649 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103768865 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 46 (P46S)
Ref Sequence ENSEMBL: ENSMUSP00000119327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028607] [ENSMUST00000111147] [ENSMUST00000145606]
Predicted Effect probably damaging
Transcript: ENSMUST00000028607
AA Change: P645S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: P645S

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: P645S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: P645S

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: ENSMUST00000132537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137572
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 unknown
Transcript: ENSMUST00000143349
AA Change: P166S
SMART Domains Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184
AA Change: P166S

DomainStartEndE-ValueType
Pfam:Caprin-1_C 1 202 8.2e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145606
AA Change: P46S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119327
Gene: ENSMUSG00000027184
AA Change: P46S

DomainStartEndE-ValueType
Pfam:Caprin-1_C 1 33 2.9e-11 PFAM
Pfam:Caprin-1_C 32 82 1.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149175
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,437,056 T96A probably damaging Het
Adam34 T A 8: 43,651,057 K517M probably benign Het
Atm A T 9: 53,515,317 I547N probably benign Het
Cadm4 A T 7: 24,499,522 D74V possibly damaging Het
Cbl A T 9: 44,201,061 Y112* probably null Het
Ccdc180 T C 4: 45,900,256 V246A probably benign Het
Chd1 A T 17: 15,754,997 E1103V probably damaging Het
Clock G A 5: 76,237,086 P428L probably benign Het
Cntn2 T A 1: 132,516,105 I979F probably benign Het
Col2a1 A G 15: 97,977,826 S1193P unknown Het
Fam205a1 T C 4: 42,852,548 probably null Het
Fga A T 3: 83,030,200 Y128F probably benign Het
Glyr1 A T 16: 5,020,288 D365E probably benign Het
Gm436 T C 4: 144,674,645 T90A possibly damaging Het
Gmppb G A 9: 108,051,247 probably null Het
Gmps A T 3: 64,001,592 H505L probably benign Het
Hexim2 A G 11: 103,138,638 N172S probably benign Het
Hmgcr T C 13: 96,666,522 E65G probably null Het
Hsd17b4 T C 18: 50,172,033 S446P possibly damaging Het
Kirrel3 C T 9: 35,016,441 T382I probably benign Het
Klra7 A T 6: 130,226,535 Y169* probably null Het
Lmbrd1 T C 1: 24,705,974 probably benign Het
Loxhd1 A G 18: 77,329,201 E211G possibly damaging Het
Maf1 T A 15: 76,352,692 F44I probably damaging Het
Mmd2 A G 5: 142,575,229 S84P probably damaging Het
Morc2b T C 17: 33,138,165 E211G probably benign Het
Mov10l1 T C 15: 89,024,837 probably benign Het
Mycbp2 C A 14: 103,155,510 C3205F possibly damaging Het
Myg1 G A 15: 102,334,338 V155M probably benign Het
Ncam2 A G 16: 81,461,571 N247S probably benign Het
Nek11 A G 9: 105,300,060 probably null Het
Nt5dc3 T A 10: 86,820,275 probably benign Het
Nudcd3 A G 11: 6,150,551 Y134H probably damaging Het
Ogfod1 T C 8: 94,063,091 probably null Het
Olfr1451 A T 19: 12,999,761 L258F possibly damaging Het
Orm2 T C 4: 63,362,978 V51A probably benign Het
P2ry14 T C 3: 59,115,335 I244V probably damaging Het
Poll A G 19: 45,553,676 V397A probably damaging Het
Ppdpf C A 2: 181,187,894 probably benign Het
Ptch1 T C 13: 63,511,681 E1249G probably benign Het
Rdh16f1 C A 10: 127,759,975 T13K probably benign Het
Rrp1 G A 10: 78,405,071 probably benign Het
Sec14l2 A G 11: 4,103,432 M346T probably benign Het
Sh2d2a A T 3: 87,851,829 Q246L probably benign Het
Slc44a1 G A 4: 53,491,448 D62N probably damaging Het
Snx22 A G 9: 66,068,778 Y58H probably damaging Het
Ttn T A 2: 76,769,435 D19104V probably damaging Het
Ugt2a3 T C 5: 87,327,120 S422G probably damaging Het
Zfyve19 G T 2: 119,210,613 probably benign Het
Other mutations in Caprin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Caprin1 APN 2 103775456 missense probably benign 0.00
IGL02054:Caprin1 APN 2 103771798 unclassified probably null
IGL02260:Caprin1 APN 2 103779369 missense probably damaging 1.00
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
Posted On2013-10-07