Incidental Mutation 'R3830:Cplane2'
ID 273937
Institutional Source Beutler Lab
Gene Symbol Cplane2
Ensembl Gene ENSMUSG00000073733
Gene Name ciliogenesis and planar polarity effector 2
Synonyms Rsg1, b2b2827Clo, b2b2804Clo, 6330545A04Rik, LOC279260
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R3830 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 140941249-140947425 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140945900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 148 (R148C)
Ref Sequence ENSEMBL: ENSMUSP00000095422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097813]
AlphaFold A2A825
Predicted Effect probably damaging
Transcript: ENSMUST00000097813
AA Change: R148C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095422
Gene: ENSMUSG00000073733
AA Change: R148C

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 0.3289 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat5 A G 8: 18,929,621 (GRCm39) E250G probably benign Het
Aox4 A T 1: 58,294,670 (GRCm39) T960S probably damaging Het
Bach2 T A 4: 32,563,150 (GRCm39) L539H probably damaging Het
Capn1 A T 19: 6,044,877 (GRCm39) L465Q probably damaging Het
Cd300c A G 11: 114,850,453 (GRCm39) F117L probably benign Het
Cep104 T G 4: 154,069,400 (GRCm39) M207R probably damaging Het
Chd2 A G 7: 73,141,163 (GRCm39) Y577H possibly damaging Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Cspg4 T G 9: 56,804,905 (GRCm39) D1905E probably damaging Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Drd2 T A 9: 49,313,443 (GRCm39) V204D probably damaging Het
Gclc A T 9: 77,699,242 (GRCm39) I520L probably benign Het
Gpat3 A G 5: 101,032,252 (GRCm39) D183G probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gprin3 T C 6: 59,330,618 (GRCm39) E563G probably benign Het
Grm8 A T 6: 27,761,228 (GRCm39) L332* probably null Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hecw1 C T 13: 14,520,643 (GRCm39) S198N probably benign Het
Kcna2 T C 3: 107,012,112 (GRCm39) I231T probably benign Het
Lpcat1 T C 13: 73,637,212 (GRCm39) I114T possibly damaging Het
Mast4 G T 13: 102,875,319 (GRCm39) H1350N probably damaging Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Or2b11 G T 11: 59,462,427 (GRCm39) N46K probably damaging Het
Pigb T C 9: 72,924,755 (GRCm39) N468S probably benign Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Plekhg1 A G 10: 3,823,400 (GRCm39) T123A probably damaging Het
Ptges3l T C 11: 101,312,443 (GRCm39) *67W probably null Het
Rgs12 G A 5: 35,123,359 (GRCm39) V381M possibly damaging Het
Rrm2 G T 12: 24,758,598 (GRCm39) A47S probably benign Het
Six2 G T 17: 85,992,615 (GRCm39) S296Y probably damaging Het
Slc5a12 T A 2: 110,463,081 (GRCm39) C392* probably null Het
Snx5 A T 2: 144,096,821 (GRCm39) probably null Het
Svep1 A G 4: 58,096,177 (GRCm39) L1481P probably damaging Het
Tspan18 T C 2: 93,050,453 (GRCm39) I57V probably benign Het
Ube3b C A 5: 114,538,012 (GRCm39) Q368K probably damaging Het
Zfhx4 A T 3: 5,466,269 (GRCm39) K2142N probably damaging Het
Zfp729a A T 13: 67,767,997 (GRCm39) F744Y probably damaging 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
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
R6543:Cplane2 UTSW 4 140,944,599 (GRCm39) missense probably benign
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'- TGAGCTGAGAACTGTGTGC -3'
(R):5'- GAGCACTGGAACTCTGGTAG -3'

Sequencing Primer
(F):5'- AGTTTCCCAGTCTGCGAAAG -3'
(R):5'- CACTGGAACTCTGGTAGGATGTG -3'
Posted On 2015-04-02