Incidental Mutation 'IGL01356:Caprin1'
ID75527
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? Possibly essential (E-score: 0.557) question?
Stock #IGL01356
Quality Score
Status
Chromosome2
Chromosomal Location103762941-103797649 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103775456 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 396 (T396A)
Ref Sequence ENSEMBL: ENSMUSP00000106777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028607] [ENSMUST00000111147] [ENSMUST00000145606]
Predicted Effect probably benign
Transcript: ENSMUST00000028607
AA Change: T396A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: T396A

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 benign
Transcript: ENSMUST00000111147
AA Change: T396A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: T396A

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 noncoding transcript
Transcript: ENSMUST00000141750
Predicted Effect unknown
Transcript: ENSMUST00000143188
AA Change: T208A
SMART Domains Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184
AA Change: T208A

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 probably benign
Transcript: ENSMUST00000143349
SMART Domains Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184

DomainStartEndE-ValueType
Pfam:Caprin-1_C 1 202 8.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145606
SMART Domains Protein: ENSMUSP00000119327
Gene: ENSMUSG00000027184

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: ENSMUST00000145697
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik C T 19: 45,966,303 C149Y possibly damaging Het
9230113P08Rik T A 9: 35,908,948 C33* probably null Het
AA474408 T C 7: 110,060,982 probably benign Het
Acsl1 T C 8: 46,511,463 probably null Het
Adck2 T C 6: 39,583,920 V463A probably benign Het
B4galt4 T A 16: 38,754,144 I224N probably damaging Het
Cbx3 T C 6: 51,475,301 V32A probably damaging Het
Chd1 A T 17: 15,749,865 K960I probably damaging Het
Cldn4 A G 5: 134,946,489 I86T probably benign Het
Cst12 A C 2: 148,789,548 D50A probably damaging Het
Dock10 A G 1: 80,523,742 Y1864H probably damaging Het
Dscaml1 G A 9: 45,746,857 G1642E probably benign Het
Jakmip3 T C 7: 139,017,612 L241P probably damaging Het
Kdm1a C T 4: 136,553,891 R669H probably damaging Het
Lin54 G A 5: 100,454,017 P455S probably damaging Het
Lrig1 G A 6: 94,609,893 P601S probably damaging Het
Lrig1 A G 6: 94,654,920 Y100H probably benign Het
Mtrf1 A G 14: 79,423,425 D419G probably benign Het
Naca C T 10: 128,041,715 probably benign Het
Naip1 A G 13: 100,423,214 L1094P probably damaging Het
Nell2 A T 15: 95,229,183 N770K probably damaging Het
Notch4 A G 17: 34,581,026 H987R possibly damaging Het
Olfr437 T A 6: 43,167,390 C111S probably damaging Het
Olfr487 T A 7: 108,211,726 I268F probably benign Het
Olfr844 T A 9: 19,318,942 M142K probably damaging Het
Plcg1 G T 2: 160,753,893 G561W probably damaging Het
Ripor3 T A 2: 167,993,575 M159L probably benign Het
Serpinb6a A G 13: 33,925,417 S111P possibly damaging Het
Tas1r3 A T 4: 155,861,327 H537Q probably benign Het
Tefm G A 11: 80,137,997 R43* probably null Het
Tiam1 A G 16: 89,837,788 V878A probably damaging Het
Vmn1r203 A G 13: 22,524,777 S243G probably damaging Het
Vmn2r124 G T 17: 18,073,471 V607L probably benign Het
Vps8 T G 16: 21,517,357 probably null Het
Ythdf2 A T 4: 132,205,350 D166E possibly damaging Het
Zan A G 5: 137,436,432 V2203A unknown Het
Other mutations in Caprin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Caprin1 APN 2 103768865 missense probably damaging 0.99
IGL02054:Caprin1 APN 2 103771798 splice site 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
R7338:Caprin1 UTSW 2 103779423 missense probably benign 0.01
R7624:Caprin1 UTSW 2 103772677 missense possibly damaging 0.81
R7749:Caprin1 UTSW 2 103771754 missense probably benign 0.03
R7946:Caprin1 UTSW 2 103772748 missense probably damaging 0.99
R8304:Caprin1 UTSW 2 103769517 missense probably damaging 1.00
R8324:Caprin1 UTSW 2 103783181 nonsense probably null
R8547:Caprin1 UTSW 2 103769517 missense probably damaging 1.00
R8549:Caprin1 UTSW 2 103769517 missense probably damaging 1.00
R8782:Caprin1 UTSW 2 103772788 missense probably benign 0.06
R8946:Caprin1 UTSW 2 103778033 missense probably damaging 1.00
Z1177:Caprin1 UTSW 2 103775934 missense probably null 1.00
Posted On2013-10-07