Incidental Mutation 'IGL03405:Caprin1'
ID421553
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: 0.844) question?
Stock #IGL03405
Quality Score
Status
Chromosome2
Chromosomal Location103762941-103797649 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103779505 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 143 (R143C)
Ref Sequence ENSEMBL: ENSMUSP00000106777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028607] [ENSMUST00000111147]
Predicted Effect probably damaging
Transcript: ENSMUST00000028607
AA Change: R143C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: R143C

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: R143C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: R143C

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,016,403 V101A probably benign Het
Btbd3 G A 2: 138,279,761 M121I probably damaging Het
Cfap206 A G 4: 34,716,445 I340T possibly damaging Het
Chmp6 A G 11: 119,915,447 Y33C probably damaging Het
Clstn3 T C 6: 124,438,368 D679G possibly damaging Het
Col24a1 G A 3: 145,315,157 A430T possibly damaging Het
Commd6 A T 14: 101,637,072 V28E probably damaging Het
Eno2 T A 6: 124,763,885 Y236F probably benign Het
Erbb4 T C 1: 68,330,238 S415G probably benign Het
Evpl A G 11: 116,227,927 I648T possibly damaging Het
Fat1 T A 8: 45,025,241 D2441E probably damaging Het
Fat4 T C 3: 38,958,450 V2298A probably benign Het
Fbxl8 C A 8: 105,268,120 T88K probably benign Het
Ganc A G 2: 120,433,766 H400R probably damaging Het
Helb G A 10: 120,089,796 T892I probably damaging Het
Jaml A T 9: 45,093,809 K124N possibly damaging Het
Llgl2 G T 11: 115,850,842 E599D probably benign Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nr2e1 G A 10: 42,568,381 A244V probably damaging Het
Obscn T C 11: 59,000,124 K7194R unknown Het
Olfr1031 A G 2: 85,991,886 Q23R possibly damaging Het
Olfr1394 A G 11: 49,160,886 probably null Het
Rasgrf2 A T 13: 91,896,051 I961N probably damaging Het
Retreg3 T C 11: 101,100,969 D46G probably damaging Het
Rtp2 A C 16: 23,927,576 S122A probably benign Het
Sbf2 T A 7: 110,462,932 D146V probably damaging Het
Slc39a13 A G 2: 91,063,103 V324A probably damaging Het
Sptan1 A G 2: 30,025,581 T2013A probably damaging Het
Tnni3k A G 3: 154,792,767 probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Trpm2 G A 10: 77,966,072 probably benign Het
Ttn A G 2: 76,708,932 L34570P possibly damaging Het
Vmn2r100 T C 17: 19,531,924 V806A probably damaging Het
Wdr70 A G 15: 8,035,871 S237P possibly damaging Het
Wnk1 T C 6: 119,953,895 N896S probably benign Het
Zan T A 5: 137,424,597 D2718V unknown 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
IGL02260:Caprin1 APN 2 103779369 missense probably damaging 1.00
IGL02526:Caprin1 APN 2 103775603 unclassified probably benign
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
Z1177:Caprin1 UTSW 2 103775934 missense probably null 1.00
Posted On2016-08-02