Incidental Mutation 'R3826:Cplane2'
ID 275392
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 # R3826 (G1)
Quality Score 225
Status 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: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (56/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T A 3: 59,843,896 (GRCm39) S197T possibly damaging Het
Actl6b T C 5: 137,565,535 (GRCm39) L377P probably damaging Het
Apc C A 18: 34,412,388 (GRCm39) Q236K possibly damaging Het
Atn1 G A 6: 124,723,182 (GRCm39) probably benign Het
Ccr3 A G 9: 123,829,714 (GRCm39) T350A possibly damaging Het
Cdc42bpg T C 19: 6,367,675 (GRCm39) V1015A probably damaging Het
Chd2 A G 7: 73,141,163 (GRCm39) Y577H possibly damaging Het
Col1a2 A G 6: 4,516,960 (GRCm39) probably benign Het
Col4a1 C A 8: 11,259,650 (GRCm39) G1341V probably damaging Het
Commd9 C A 2: 101,727,486 (GRCm39) N93K probably benign Het
Cx3cl1 A T 8: 95,503,934 (GRCm39) probably benign Het
Dhx37 T C 5: 125,508,677 (GRCm39) K86R probably benign Het
Dlec1 T C 9: 118,972,129 (GRCm39) probably benign Het
Dnah17 G A 11: 117,931,984 (GRCm39) probably benign Het
Fam234a T C 17: 26,437,163 (GRCm39) E172G probably benign Het
Ffar2 A T 7: 30,519,510 (GRCm39) I10N possibly damaging Het
Gas2 T C 7: 51,586,367 (GRCm39) probably null Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Grpel1 T A 5: 36,626,827 (GRCm39) N36K probably benign Het
Hgfac C A 5: 35,205,506 (GRCm39) D595E probably damaging Het
Kcnj10 A T 1: 172,197,616 (GRCm39) S377C probably damaging Het
Kcnq2 C T 2: 180,746,693 (GRCm39) V369I possibly damaging Het
Kcnt1 T C 2: 25,805,880 (GRCm39) probably null 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
Mcts1 T C X: 37,691,445 (GRCm39) probably benign Het
Muc21 A G 17: 35,932,504 (GRCm39) probably benign Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Ncor2 T C 5: 125,195,756 (GRCm39) probably benign Het
Or1o4 T A 17: 37,591,140 (GRCm39) Y57F probably damaging Het
Or5t17 T A 2: 86,832,388 (GRCm39) I25K probably damaging Het
Or9g4b C T 2: 85,616,559 (GRCm39) R235* probably null Het
Panx2 A G 15: 88,952,664 (GRCm39) D377G probably damaging Het
Pcdhb10 C A 18: 37,545,470 (GRCm39) T182N probably damaging Het
Pdha2 G T 3: 140,916,889 (GRCm39) F206L possibly damaging Het
Pgd T C 4: 149,250,461 (GRCm39) probably benign Het
Pgs1 C T 11: 117,910,584 (GRCm39) probably null Het
Rere T C 4: 150,554,785 (GRCm39) V161A probably benign 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
Rsph6a T C 7: 18,791,539 (GRCm39) L236P probably damaging Het
Rtkn2 A T 10: 67,833,456 (GRCm39) probably null Het
Rubcnl C T 14: 75,269,665 (GRCm39) L108F possibly damaging Het
Sap18b T C 8: 96,552,185 (GRCm39) F65S probably damaging Het
Scap A G 9: 110,210,365 (GRCm39) M925V probably benign Het
Slc7a8 A G 14: 54,975,029 (GRCm39) I200T probably damaging Het
Srrm3 A G 5: 135,886,068 (GRCm39) D336G probably damaging Het
Stk11 T C 10: 79,963,782 (GRCm39) probably null Het
Tiam2 C G 17: 3,557,976 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Trio T A 15: 27,833,156 (GRCm39) K75N 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
Zfp37 T C 4: 62,110,800 (GRCm39) N88S probably benign Het
Zswim8 C T 14: 20,761,157 (GRCm39) R142* probably null 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
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
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'- TGGCACTGGGTCTTGCATTC -3'
(R):5'- AAAATGTGCAGCAGTCCTCTGG -3'

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