Incidental Mutation 'IGL01304:C2cd2l'
ID73354
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd2l
Ensembl Gene ENSMUSG00000032120
Gene NameC2 calcium-dependent domain containing 2-like
Synonyms1300006O23Rik, Tmem24
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL01304
Quality Score
Status
Chromosome9
Chromosomal Location44309237-44320285 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44319587 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 101 (N101S)
Ref Sequence ENSEMBL: ENSMUSP00000065233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065080] [ENSMUST00000213160] [ENSMUST00000214602] [ENSMUST00000216222]
Predicted Effect probably damaging
Transcript: ENSMUST00000065080
AA Change: N101S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065233
Gene: ENSMUSG00000032120
AA Change: N101S

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 67 79 N/A INTRINSIC
SCOP:d1qasa2 284 408 4e-3 SMART
Blast:C2 287 395 9e-62 BLAST
low complexity region 417 430 N/A INTRINSIC
low complexity region 444 452 N/A INTRINSIC
low complexity region 483 503 N/A INTRINSIC
low complexity region 566 587 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213818
Predicted Effect possibly damaging
Transcript: ENSMUST00000214602
AA Change: N101S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214915
Predicted Effect probably benign
Transcript: ENSMUST00000216222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216855
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,215,721 D79E probably benign Het
Aplf A C 6: 87,641,900 S421A possibly damaging Het
Arnt T G 3: 95,448,385 D13E probably damaging Het
Asap1 T C 15: 64,312,449 E45G probably damaging Het
Chmp7 G A 14: 69,718,613 P402L probably benign Het
Cir1 A T 2: 73,287,724 probably null Het
Clock A G 5: 76,266,355 probably null Het
Col18a1 T G 10: 77,076,141 probably benign Het
Csf2ra G A 19: 61,226,833 H115Y possibly damaging Het
Cspg5 T A 9: 110,256,168 L469H probably damaging Het
Dapk2 T C 9: 66,231,857 probably benign Het
F13a1 T C 13: 36,988,878 D176G probably benign Het
Fbn2 T C 18: 58,061,745 E1448G probably damaging Het
Gtf2b C T 3: 142,781,598 S265L probably benign Het
Hmcn1 C T 1: 150,622,924 G4068D probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ksr1 T C 11: 79,027,642 Q562R probably damaging Het
Lrif1 C T 3: 106,731,733 P20S probably damaging Het
Mamdc4 T C 2: 25,563,576 T1194A possibly damaging Het
Med18 C A 4: 132,459,619 A190S probably damaging Het
Mia2 G A 12: 59,104,538 E105K probably damaging Het
Mnt T A 11: 74,842,185 Y48N probably damaging Het
Mpp4 A C 1: 59,149,519 probably null Het
Olfr1272 G A 2: 90,282,081 P165S possibly damaging Het
Popdc3 T G 10: 45,317,909 S269A probably benign Het
Ppp6r3 A T 19: 3,467,261 M662K probably damaging Het
Qser1 C A 2: 104,787,631 Q945H probably damaging Het
Rad52 A G 6: 119,918,633 E198G probably damaging Het
Ranbp17 A G 11: 33,266,147 V867A possibly damaging Het
Rdh16 G T 10: 127,813,496 A274S probably benign Het
Slco1a5 G T 6: 142,242,150 Q488K probably benign Het
Snai2 T C 16: 14,706,771 I47T probably benign Het
Snw1 T C 12: 87,453,915 D358G possibly damaging Het
Speg T C 1: 75,428,197 F2878L probably benign Het
Spert T A 14: 75,592,645 D36V possibly damaging Het
Spg11 T C 2: 122,072,290 Y1386C probably damaging Het
Tgfb2 A C 1: 186,625,473 I435S probably damaging Het
Ttc9b G A 7: 27,655,985 D227N probably benign Het
Txndc2 T C 17: 65,638,453 E243G possibly damaging Het
Usp28 A G 9: 49,026,819 D563G probably damaging Het
Vmn1r77 T C 7: 12,042,035 V178A probably damaging Het
Zfp316 A G 5: 143,254,426 F613L probably benign Het
Zfp870 A T 17: 32,883,006 C450S possibly damaging Het
Other mutations in C2cd2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:C2cd2l APN 9 44317103 missense probably damaging 1.00
IGL02402:C2cd2l APN 9 44316581 missense probably benign 0.31
R0701:C2cd2l UTSW 9 44316202 missense probably damaging 1.00
R0883:C2cd2l UTSW 9 44316202 missense probably damaging 1.00
R1321:C2cd2l UTSW 9 44317581 critical splice donor site probably null
R1594:C2cd2l UTSW 9 44316773 missense probably damaging 1.00
R1665:C2cd2l UTSW 9 44316775 missense probably benign 0.07
R1700:C2cd2l UTSW 9 44316612 missense probably benign 0.00
R1739:C2cd2l UTSW 9 44319743 missense probably benign 0.26
R1770:C2cd2l UTSW 9 44316811 missense probably benign 0.02
R2065:C2cd2l UTSW 9 44316335 missense probably benign 0.19
R4669:C2cd2l UTSW 9 44315025 missense possibly damaging 0.92
R4835:C2cd2l UTSW 9 44315145 critical splice donor site probably null
R4890:C2cd2l UTSW 9 44311133 missense probably damaging 1.00
R4916:C2cd2l UTSW 9 44316560 missense probably damaging 0.97
R5664:C2cd2l UTSW 9 44313772 missense probably damaging 1.00
R6268:C2cd2l UTSW 9 44317666 missense probably damaging 1.00
R6339:C2cd2l UTSW 9 44313491 splice site probably benign
R7043:C2cd2l UTSW 9 44316551 missense probably damaging 1.00
R7236:C2cd2l UTSW 9 44317663 missense possibly damaging 0.71
R7532:C2cd2l UTSW 9 44315384 missense probably benign 0.41
Posted On2013-10-07