Incidental Mutation 'IGL02926:C2cd5'
ID 363897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd5
Ensembl Gene ENSMUSG00000030279
Gene Name C2 calcium-dependent domain containing 5
Synonyms 5730419I09Rik, CDP138, C030008B15Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # IGL02926
Quality Score
Status
Chromosome 6
Chromosomal Location 142956646-143045867 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 142976963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087485] [ENSMUST00000111758] [ENSMUST00000171349] [ENSMUST00000203187] [ENSMUST00000203673] [ENSMUST00000204655] [ENSMUST00000205119]
AlphaFold Q7TPS5
Predicted Effect probably benign
Transcript: ENSMUST00000087485
SMART Domains Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
C2 4 105 1.07e-15 SMART
Blast:C2 127 177 1e-24 BLAST
low complexity region 309 320 N/A INTRINSIC
low complexity region 350 359 N/A INTRINSIC
internal_repeat_1 381 453 3.98e-5 PROSPERO
low complexity region 637 653 N/A INTRINSIC
internal_repeat_1 909 984 3.98e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000111758
SMART Domains Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
C2 4 105 1.07e-15 SMART
Blast:C2 127 177 1e-24 BLAST
low complexity region 290 317 N/A INTRINSIC
low complexity region 318 329 N/A INTRINSIC
low complexity region 359 368 N/A INTRINSIC
internal_repeat_1 390 462 1.3e-5 PROSPERO
low complexity region 646 662 N/A INTRINSIC
internal_repeat_1 935 1010 1.3e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000171349
SMART Domains Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
C2 4 105 1.07e-15 SMART
Blast:C2 127 177 1e-24 BLAST
low complexity region 290 317 N/A INTRINSIC
low complexity region 318 329 N/A INTRINSIC
low complexity region 359 368 N/A INTRINSIC
internal_repeat_1 390 462 1.16e-5 PROSPERO
low complexity region 646 662 N/A INTRINSIC
internal_repeat_1 918 993 1.16e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000203187
SMART Domains Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
C2 4 105 1.07e-15 SMART
Blast:C2 127 177 1e-24 BLAST
low complexity region 290 317 N/A INTRINSIC
low complexity region 318 329 N/A INTRINSIC
low complexity region 359 368 N/A INTRINSIC
internal_repeat_1 390 462 1.3e-5 PROSPERO
low complexity region 646 662 N/A INTRINSIC
internal_repeat_1 935 1010 1.3e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203349
Predicted Effect probably benign
Transcript: ENSMUST00000203673
SMART Domains Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
C2 4 105 7.3e-18 SMART
Blast:C2 127 177 1e-24 BLAST
low complexity region 309 320 N/A INTRINSIC
low complexity region 361 370 N/A INTRINSIC
internal_repeat_1 392 464 4.65e-5 PROSPERO
low complexity region 648 664 N/A INTRINSIC
internal_repeat_1 971 1046 4.65e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000204655
SMART Domains Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
C2 4 105 1.07e-15 SMART
Blast:C2 127 177 1e-24 BLAST
low complexity region 290 317 N/A INTRINSIC
low complexity region 318 329 N/A INTRINSIC
low complexity region 359 368 N/A INTRINSIC
internal_repeat_1 390 462 1.16e-5 PROSPERO
low complexity region 646 662 N/A INTRINSIC
internal_repeat_1 918 993 1.16e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000205119
SMART Domains Protein: ENSMUSP00000145397
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
Pfam:C2 3 70 5.4e-14 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(29) : Targeted, other(2) Gene trapped(27)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A T 6: 85,618,432 (GRCm39) D2826V probably damaging Het
Alpl C T 4: 137,469,945 (GRCm39) A460T probably damaging Het
C4b C T 17: 34,949,686 (GRCm39) R1468Q possibly damaging Het
Calu A G 6: 29,366,919 (GRCm39) T44A possibly damaging Het
Cgn T C 3: 94,685,326 (GRCm39) K399R probably benign Het
Ciao3 A G 17: 26,001,128 (GRCm39) H460R probably benign Het
Cyp2t4 G A 7: 26,857,228 (GRCm39) V356M probably damaging Het
D430041D05Rik T C 2: 104,044,604 (GRCm39) D683G probably damaging Het
Dhcr24 T A 4: 106,443,552 (GRCm39) I410N probably damaging Het
Dmap1 T A 4: 117,539,085 (GRCm39) E17V probably benign Het
Dnaaf9 C T 2: 130,554,286 (GRCm39) R921K probably benign Het
Dnah7a A G 1: 53,535,109 (GRCm39) I2717T possibly damaging Het
Epb41l3 G T 17: 69,554,741 (GRCm39) K280N probably damaging Het
Espl1 T A 15: 102,208,290 (GRCm39) M432K probably damaging Het
Fgf5 C A 5: 98,409,874 (GRCm39) A141E probably damaging Het
Fto T A 8: 92,211,795 (GRCm39) F373L probably damaging Het
Gpatch1 T C 7: 35,007,694 (GRCm39) D122G probably damaging Het
Ints11 T C 4: 155,972,568 (GRCm39) probably null Het
Jarid2 A G 13: 45,056,405 (GRCm39) Q398R probably benign Het
Kcnh1 A G 1: 191,959,208 (GRCm39) D254G probably damaging Het
Lamc3 C T 2: 31,825,737 (GRCm39) probably benign Het
Lamc3 C T 2: 31,825,738 (GRCm39) probably benign Het
Ltbp4 T C 7: 27,028,297 (GRCm39) probably null Het
Mcm6 A G 1: 128,267,119 (GRCm39) Y575H probably damaging Het
Myh9 A C 15: 77,671,826 (GRCm39) Y422D probably damaging Het
Or4c35 T C 2: 89,808,506 (GRCm39) L128P probably damaging Het
Or5b105 A C 19: 13,080,187 (GRCm39) N160K possibly damaging Het
Or8b47 T C 9: 38,435,021 (GRCm39) probably benign Het
Plcb1 T C 2: 135,206,682 (GRCm39) probably benign Het
Pmfbp1 A G 8: 110,246,881 (GRCm39) E251G probably damaging Het
Psg27 A T 7: 18,291,054 (GRCm39) V383E probably damaging Het
Ptprn A T 1: 75,224,517 (GRCm39) H946Q possibly damaging Het
Rbl1 A G 2: 157,009,333 (GRCm39) V734A probably benign Het
Rspry1 T A 8: 95,376,439 (GRCm39) N320K probably damaging Het
Ryr1 A T 7: 28,760,965 (GRCm39) V3219D probably damaging Het
Ryr2 C A 13: 11,774,721 (GRCm39) W1145L probably damaging Het
Scel A T 14: 103,813,683 (GRCm39) R319* probably null Het
Stxbp2 C T 8: 3,685,629 (GRCm39) T226I probably benign Het
Tac1 A T 6: 7,562,410 (GRCm39) N106I possibly damaging Het
Trim13 G T 14: 61,842,693 (GRCm39) probably null Het
Tspan31 T G 10: 126,904,778 (GRCm39) probably null Het
Usp36 C T 11: 118,155,609 (GRCm39) V723M probably benign Het
Utrn A T 10: 12,566,504 (GRCm39) N1219K probably damaging Het
Vcan G T 13: 89,836,742 (GRCm39) T2934K probably damaging Het
Other mutations in C2cd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:C2cd5 APN 6 142,963,671 (GRCm39) missense probably null 0.99
IGL01065:C2cd5 APN 6 143,024,005 (GRCm39) missense probably damaging 0.98
IGL01595:C2cd5 APN 6 142,963,748 (GRCm39) missense probably damaging 1.00
IGL01654:C2cd5 APN 6 143,027,133 (GRCm39) missense probably benign 0.06
IGL01917:C2cd5 APN 6 143,018,322 (GRCm39) missense probably benign
IGL01966:C2cd5 APN 6 142,957,767 (GRCm39) nonsense probably null
IGL02417:C2cd5 APN 6 142,987,218 (GRCm39) missense probably damaging 1.00
IGL02616:C2cd5 APN 6 142,980,837 (GRCm39) missense probably benign 0.10
IGL02745:C2cd5 APN 6 142,987,256 (GRCm39) missense probably benign 0.17
IGL02819:C2cd5 APN 6 143,028,946 (GRCm39) missense probably benign 0.33
IGL02969:C2cd5 APN 6 143,025,669 (GRCm39) missense probably damaging 1.00
IGL03072:C2cd5 APN 6 143,025,609 (GRCm39) missense possibly damaging 0.89
IGL03226:C2cd5 APN 6 143,018,292 (GRCm39) missense possibly damaging 0.86
D605:C2cd5 UTSW 6 142,975,386 (GRCm39) missense probably benign 0.00
R0385:C2cd5 UTSW 6 142,987,216 (GRCm39) missense probably damaging 1.00
R0497:C2cd5 UTSW 6 142,957,819 (GRCm39) missense probably benign 0.00
R0644:C2cd5 UTSW 6 142,958,950 (GRCm39) missense probably damaging 0.99
R0723:C2cd5 UTSW 6 142,987,281 (GRCm39) splice site probably benign
R0740:C2cd5 UTSW 6 142,981,989 (GRCm39) missense probably damaging 1.00
R1395:C2cd5 UTSW 6 143,007,464 (GRCm39) splice site probably benign
R1475:C2cd5 UTSW 6 143,018,298 (GRCm39) missense possibly damaging 0.47
R1494:C2cd5 UTSW 6 142,987,072 (GRCm39) splice site probably benign
R1645:C2cd5 UTSW 6 142,995,852 (GRCm39) missense probably damaging 1.00
R1928:C2cd5 UTSW 6 142,958,956 (GRCm39) missense probably damaging 1.00
R2253:C2cd5 UTSW 6 142,982,042 (GRCm39) nonsense probably null
R3934:C2cd5 UTSW 6 142,987,106 (GRCm39) missense possibly damaging 0.96
R4065:C2cd5 UTSW 6 143,019,397 (GRCm39) missense probably benign
R4654:C2cd5 UTSW 6 142,975,910 (GRCm39) missense probably benign 0.00
R4691:C2cd5 UTSW 6 142,975,874 (GRCm39) missense possibly damaging 0.47
R4972:C2cd5 UTSW 6 142,958,950 (GRCm39) missense probably damaging 0.99
R5302:C2cd5 UTSW 6 143,019,482 (GRCm39) missense probably benign 0.02
R5362:C2cd5 UTSW 6 143,028,969 (GRCm39) missense probably damaging 1.00
R5604:C2cd5 UTSW 6 142,957,747 (GRCm39) missense probably benign 0.44
R6139:C2cd5 UTSW 6 142,980,784 (GRCm39) missense probably damaging 0.97
R6165:C2cd5 UTSW 6 142,995,954 (GRCm39) missense possibly damaging 0.58
R6567:C2cd5 UTSW 6 142,976,974 (GRCm39) missense possibly damaging 0.86
R6600:C2cd5 UTSW 6 143,025,702 (GRCm39) missense probably damaging 0.99
R6821:C2cd5 UTSW 6 142,963,712 (GRCm39) missense probably damaging 1.00
R6838:C2cd5 UTSW 6 142,975,364 (GRCm39) missense possibly damaging 0.68
R7153:C2cd5 UTSW 6 142,965,135 (GRCm39) missense probably benign 0.04
R7689:C2cd5 UTSW 6 142,995,951 (GRCm39) nonsense probably null
R8027:C2cd5 UTSW 6 143,024,046 (GRCm39) missense possibly damaging 0.95
R8461:C2cd5 UTSW 6 142,980,802 (GRCm39) missense probably damaging 1.00
R8852:C2cd5 UTSW 6 143,028,946 (GRCm39) missense probably benign 0.33
R8860:C2cd5 UTSW 6 143,028,946 (GRCm39) missense probably benign 0.33
R8863:C2cd5 UTSW 6 142,987,088 (GRCm39) missense possibly damaging 0.95
R9238:C2cd5 UTSW 6 143,027,127 (GRCm39) missense possibly damaging 0.76
R9320:C2cd5 UTSW 6 142,977,019 (GRCm39) nonsense probably null
R9758:C2cd5 UTSW 6 142,984,613 (GRCm39) missense probably benign 0.03
X0013:C2cd5 UTSW 6 143,012,808 (GRCm39) missense probably damaging 0.99
Z1177:C2cd5 UTSW 6 142,974,932 (GRCm39) missense probably null 1.00
Posted On 2015-12-18