Incidental Mutation 'R6543:Cplane2'
ID 520918
Institutional Source Beutler Lab
Gene Symbol Cplane2
Ensembl Gene ENSMUSG00000073733
Gene Name ciliogenesis and planar polarity effector 2
Synonyms Rsg1, b2b2827Clo, b2b2804Clo, 6330545A04Rik, LOC279260
MMRRC Submission 044669-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R6543 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 140941249-140947425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 140944599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 50 (V50G)
Ref Sequence ENSEMBL: ENSMUSP00000095422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097813]
AlphaFold A2A825
Predicted Effect probably benign
Transcript: ENSMUST00000097813
AA Change: V50G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095422
Gene: ENSMUSG00000073733
AA Change: V50G

DomainStartEndE-ValueType
Pfam:Roc 57 179 7.3e-9 PFAM
Pfam:Ras 57 207 4.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151475
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
MGI Phenotype PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular defects including persistent truncus arteriosus and atrioventricular septal defects, as well as polydactyly and micrognathia. Eye defects, hypoplastic lungs and thymus, and tracheoesophageal anomalies may be also present. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T C 2: 126,908,525 (GRCm39) V1091A probably benign Het
Arhgef11 A G 3: 87,640,715 (GRCm39) N1320D probably benign Het
Atl3 T A 19: 7,487,463 (GRCm39) F126Y probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Creld2 A G 15: 88,709,481 (GRCm39) T331A probably benign Het
Cuzd1 A G 7: 130,911,497 (GRCm39) V494A probably damaging Het
Dclk1 C T 3: 55,407,552 (GRCm39) P244S probably damaging Het
Esyt3 T C 9: 99,220,825 (GRCm39) N126S possibly damaging Het
Focad T C 4: 88,197,493 (GRCm39) S629P unknown Het
Grip1 T C 10: 119,821,499 (GRCm39) L389P probably benign Het
Igkv4-91 A T 6: 68,745,582 (GRCm39) D105E probably damaging Het
Il20ra G A 10: 19,625,071 (GRCm39) A117T probably damaging Het
Il6ra A G 3: 89,784,170 (GRCm39) V367A probably damaging Het
Itga8 C T 2: 12,306,455 (GRCm39) V47M probably damaging Het
Limk2 T C 11: 3,300,682 (GRCm39) Y220C probably damaging Het
Lims1 T A 10: 58,248,273 (GRCm39) C243* probably null Het
Man1a C A 10: 53,811,077 (GRCm39) G435* probably null Het
Msantd5f4 A G 4: 73,557,215 (GRCm39) E16G probably damaging Het
Mtor T A 4: 148,630,053 (GRCm39) I2250N probably damaging Het
N4bp1 G A 8: 87,588,534 (GRCm39) Q135* probably null Het
Nbeal2 A T 9: 110,473,526 (GRCm39) D76E probably benign Het
Nbn T C 4: 15,986,605 (GRCm39) S669P probably benign Het
Nfrkb C T 9: 31,312,281 (GRCm39) Q456* probably null Het
Or6c3b C A 10: 129,527,859 (GRCm39) G17V probably benign Het
Pcnx3 C T 19: 5,715,275 (GRCm39) A1557T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prokr2 T A 2: 132,215,819 (GRCm39) Q53L probably benign Het
Pxmp4 C A 2: 154,429,979 (GRCm39) A137S possibly damaging Het
Rasef C T 4: 73,698,756 (GRCm39) probably benign Het
Scpppq1 T C 5: 104,222,741 (GRCm39) probably benign Het
Scrt2 C T 2: 151,935,063 (GRCm39) A72V probably benign Het
Sipa1l2 T C 8: 126,177,101 (GRCm39) E1171G possibly damaging Het
Slc26a8 T C 17: 28,857,375 (GRCm39) T923A possibly damaging Het
Slco1a6 T C 6: 142,078,872 (GRCm39) K141R probably benign Het
Slfn5 T A 11: 82,849,492 (GRCm39) probably null Het
Sympk A T 7: 18,770,755 (GRCm39) H282L probably damaging Het
Tnr A G 1: 159,751,677 (GRCm39) Y1324C probably damaging Het
Topaz1 A G 9: 122,577,600 (GRCm39) N170S possibly damaging Het
Trav6-3 T C 14: 53,666,219 (GRCm39) M1T probably null Het
Trim66 A G 7: 109,075,086 (GRCm39) S392P probably benign Het
Ttn T C 2: 76,599,155 (GRCm39) T10958A probably damaging Het
Ubr7 A G 12: 102,734,494 (GRCm39) K256R probably benign Het
Other mutations in Cplane2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Cplane2 APN 4 140,945,964 (GRCm39) missense probably benign 0.01
R0488:Cplane2 UTSW 4 140,941,712 (GRCm39) missense probably benign 0.05
R0967:Cplane2 UTSW 4 140,947,162 (GRCm39) missense probably benign 0.01
R1339:Cplane2 UTSW 4 140,945,859 (GRCm39) missense probably damaging 1.00
R1460:Cplane2 UTSW 4 140,945,523 (GRCm39) missense probably damaging 0.97
R3826:Cplane2 UTSW 4 140,945,900 (GRCm39) missense probably damaging 1.00
R3828:Cplane2 UTSW 4 140,945,900 (GRCm39) missense probably damaging 1.00
R3829:Cplane2 UTSW 4 140,945,900 (GRCm39) missense probably damaging 1.00
R3830:Cplane2 UTSW 4 140,945,900 (GRCm39) missense probably damaging 1.00
R5076:Cplane2 UTSW 4 140,944,696 (GRCm39) missense probably benign 0.00
R5242:Cplane2 UTSW 4 140,947,158 (GRCm39) missense probably damaging 1.00
R5527:Cplane2 UTSW 4 140,947,303 (GRCm39) missense probably damaging 1.00
R5610:Cplane2 UTSW 4 140,947,177 (GRCm39) missense probably benign 0.00
R5677:Cplane2 UTSW 4 140,947,177 (GRCm39) missense probably benign 0.00
R6049:Cplane2 UTSW 4 140,945,473 (GRCm39) missense probably benign 0.18
R7078:Cplane2 UTSW 4 140,947,159 (GRCm39) missense probably benign 0.01
R7483:Cplane2 UTSW 4 140,947,153 (GRCm39) missense probably damaging 1.00
R8046:Cplane2 UTSW 4 140,947,348 (GRCm39) missense probably damaging 1.00
R8169:Cplane2 UTSW 4 140,945,530 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAGAGCAGTTGACAATGACAAG -3'
(R):5'- GCGAAGTTCTTGTCCCCATC -3'

Sequencing Primer
(F):5'- CTGTGAGATCCTAGAACATCTCTGTG -3'
(R):5'- TCCCATGGAAGGACACCAAGG -3'
Posted On 2018-06-06