Incidental Mutation 'R1558:Caprin1'
ID 170396
Institutional Source Beutler Lab
Gene Symbol Caprin1
Ensembl Gene ENSMUSG00000027184
Gene Name cell cycle associated protein 1
Synonyms caprin-1, RNG105, Gpiap1, MMGPIP137
MMRRC Submission 039597-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.591) question?
Stock # R1558 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 103593292-103627946 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103606332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 303 (F303I)
Ref Sequence ENSEMBL: ENSMUSP00000106777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028607] [ENSMUST00000111147] [ENSMUST00000145606]
AlphaFold Q60865
Predicted Effect possibly damaging
Transcript: ENSMUST00000028607
AA Change: F303I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: F303I

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 possibly damaging
Transcript: ENSMUST00000111147
AA Change: F303I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: F303I

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 unknown
Transcript: ENSMUST00000143188
AA Change: F115I
SMART Domains Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184
AA Change: F115I

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: ENSMUST00000149175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141750
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T A 4: 53,092,887 (GRCm39) Q299L probably null Het
Adamts9 T G 6: 92,885,692 (GRCm39) K399N possibly damaging Het
Alox12b T C 11: 69,056,711 (GRCm39) F369S probably damaging Het
Alpk2 A G 18: 65,483,301 (GRCm39) Y236H probably benign Het
Ankrd36 T C 11: 5,585,329 (GRCm39) L380P probably damaging Het
Atp2a1 C T 7: 126,051,844 (GRCm39) A468T possibly damaging Het
Casp7 A T 19: 56,421,684 (GRCm39) R41* probably null Het
Ccdc66 T A 14: 27,208,463 (GRCm39) H753L probably benign Het
Ccnc T C 4: 21,742,671 (GRCm39) M166T probably benign Het
Cdkl3 T A 11: 51,923,337 (GRCm39) M538K possibly damaging Het
Cemip2 T A 19: 21,775,346 (GRCm39) Y196* probably null Het
Cercam G A 2: 29,766,251 (GRCm39) A345T probably benign Het
Chmp3 T A 6: 71,537,954 (GRCm39) C60* probably null Het
Ddx1 C T 12: 13,289,542 (GRCm39) G125S probably damaging Het
Defb7 A G 8: 19,547,567 (GRCm39) D24G probably benign Het
Dgcr8 A T 16: 18,077,452 (GRCm39) Y653N probably damaging Het
Dsc2 T C 18: 20,183,208 (GRCm39) D70G probably damaging Het
Erich3 T G 3: 154,419,705 (GRCm39) N266K probably damaging Het
Fastk A T 5: 24,649,045 (GRCm39) probably null Het
Fat4 A G 3: 38,943,135 (GRCm39) N676S probably damaging Het
Fermt1 A T 2: 132,776,739 (GRCm39) probably null Het
Fmn1 A G 2: 113,523,463 (GRCm39) T1149A possibly damaging Het
Foxo3 A G 10: 42,073,068 (GRCm39) V483A probably damaging Het
Fpgs T C 2: 32,575,852 (GRCm39) T364A possibly damaging Het
Gm12185 A G 11: 48,806,262 (GRCm39) S310P probably damaging Het
Gm15056 A T 8: 21,391,949 (GRCm39) probably benign Het
Hcn1 T C 13: 118,112,112 (GRCm39) V692A unknown Het
Izumo3 A C 4: 92,035,140 (GRCm39) C26G probably damaging Het
Kcnf1 T C 12: 17,225,474 (GRCm39) Y249C probably damaging Het
Kcnj6 T C 16: 94,563,358 (GRCm39) E380G possibly damaging Het
Kdm3b A G 18: 34,942,149 (GRCm39) T747A probably damaging Het
Lrba G A 3: 86,258,622 (GRCm39) G1370R probably damaging Het
Mei1 G A 15: 81,991,334 (GRCm39) R504Q probably damaging Het
Mgat4f G A 1: 134,318,512 (GRCm39) G428D probably damaging Het
Mipol1 T C 12: 57,379,127 (GRCm39) I195T probably damaging Het
Ncor2 G A 5: 125,110,610 (GRCm39) T1350I probably damaging Het
Npy A G 6: 49,800,705 (GRCm39) E43G probably damaging Het
Or4e5 T A 14: 52,727,603 (GRCm39) I273F probably benign Het
Or5w19 T A 2: 87,698,459 (GRCm39) N41K probably damaging Het
Or8d2 T A 9: 38,760,200 (GRCm39) N263K probably benign Het
Pcdhb3 T C 18: 37,434,634 (GRCm39) L200P probably damaging Het
Pcnt G A 10: 76,258,756 (GRCm39) H570Y possibly damaging Het
Phf8-ps T A 17: 33,284,679 (GRCm39) I708F probably benign Het
Pkd1l2 A C 8: 117,808,991 (GRCm39) D66E possibly damaging Het
Plekhg4 A G 8: 106,108,467 (GRCm39) D1170G possibly damaging Het
Poln T A 5: 34,190,143 (GRCm39) H672L probably benign Het
Ptprq T C 10: 107,479,904 (GRCm39) Y1122C probably damaging Het
Ptrhd1 A G 12: 4,286,505 (GRCm39) Y132C probably damaging Het
Pwwp3a G T 10: 80,068,778 (GRCm39) R307S probably benign Het
Riok1 G T 13: 38,234,831 (GRCm39) R300L probably damaging Het
Sbf2 G T 7: 110,027,553 (GRCm39) T481K probably damaging Het
Sidt2 A T 9: 45,863,098 (GRCm39) M11K probably damaging Het
Slc66a1 A T 4: 139,027,391 (GRCm39) probably benign Het
Syne1 G A 10: 5,299,280 (GRCm39) R992* probably null Het
Tmem8b C A 4: 43,681,134 (GRCm39) R384S possibly damaging Het
Trim28 T C 7: 12,761,761 (GRCm39) Y243H probably damaging Het
Trpm6 T C 19: 18,764,192 (GRCm39) M266T probably benign Het
Tsg101 A T 7: 46,539,437 (GRCm39) S368T probably damaging Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ttc6 G A 12: 57,733,132 (GRCm39) V1092I probably benign Het
Vps13b C T 15: 35,534,465 (GRCm39) T927I probably damaging Het
Zfr C T 15: 12,140,730 (GRCm39) T259I unknown Het
Other mutations in Caprin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Caprin1 APN 2 103,605,801 (GRCm39) missense probably benign 0.00
IGL01369:Caprin1 APN 2 103,599,210 (GRCm39) missense probably damaging 0.99
IGL02054:Caprin1 APN 2 103,602,143 (GRCm39) splice site probably null
IGL02260:Caprin1 APN 2 103,609,714 (GRCm39) missense probably damaging 1.00
IGL02526:Caprin1 APN 2 103,605,948 (GRCm39) unclassified probably benign
IGL03405:Caprin1 APN 2 103,609,850 (GRCm39) missense probably damaging 1.00
R0027:Caprin1 UTSW 2 103,605,925 (GRCm39) unclassified probably benign
R0396:Caprin1 UTSW 2 103,599,914 (GRCm39) missense probably damaging 0.99
R0603:Caprin1 UTSW 2 103,627,146 (GRCm39) missense probably benign 0.01
R1406:Caprin1 UTSW 2 103,606,332 (GRCm39) missense probably benign 0.39
R1406:Caprin1 UTSW 2 103,606,332 (GRCm39) missense probably benign 0.39
R1657:Caprin1 UTSW 2 103,599,851 (GRCm39) missense probably damaging 0.99
R2945:Caprin1 UTSW 2 103,603,154 (GRCm39) missense probably benign 0.04
R3946:Caprin1 UTSW 2 103,627,111 (GRCm39) missense probably damaging 0.99
R5208:Caprin1 UTSW 2 103,599,778 (GRCm39) critical splice donor site probably null
R6108:Caprin1 UTSW 2 103,606,362 (GRCm39) missense possibly damaging 0.93
R6603:Caprin1 UTSW 2 103,605,856 (GRCm39) missense probably benign 0.01
R7247:Caprin1 UTSW 2 103,609,819 (GRCm39) missense possibly damaging 0.63
R7338:Caprin1 UTSW 2 103,609,768 (GRCm39) missense probably benign 0.01
R7624:Caprin1 UTSW 2 103,603,022 (GRCm39) missense possibly damaging 0.81
R7749:Caprin1 UTSW 2 103,602,099 (GRCm39) missense probably benign 0.03
R7946:Caprin1 UTSW 2 103,603,093 (GRCm39) missense probably damaging 0.99
R8304:Caprin1 UTSW 2 103,599,862 (GRCm39) missense probably damaging 1.00
R8324:Caprin1 UTSW 2 103,613,526 (GRCm39) nonsense probably null
R8547:Caprin1 UTSW 2 103,599,862 (GRCm39) missense probably damaging 1.00
R8549:Caprin1 UTSW 2 103,599,862 (GRCm39) missense probably damaging 1.00
R8782:Caprin1 UTSW 2 103,603,133 (GRCm39) missense probably benign 0.06
R8946:Caprin1 UTSW 2 103,608,378 (GRCm39) missense probably damaging 1.00
R9332:Caprin1 UTSW 2 103,603,390 (GRCm39) missense probably benign 0.00
R9758:Caprin1 UTSW 2 103,606,283 (GRCm39) missense possibly damaging 0.70
Z1177:Caprin1 UTSW 2 103,606,279 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CTCACAAGTGGATCTGACTGAGCC -3'
(R):5'- CTTTAGAACCTGAGCCAGCGGAAG -3'

Sequencing Primer
(F):5'- ATCTGACTGAGCCACTGGAG -3'
(R):5'- CTGAGCCAGCGGAAGAATAC -3'
Posted On 2014-04-13