Incidental Mutation 'IGL02819:C2cd5'
ID 360910
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 # IGL02819
Quality Score
Status
Chromosome 6
Chromosomal Location 142956646-143045867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143028946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 98 (Y98H)
Ref Sequence ENSEMBL: ENSMUSP00000145373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087485] [ENSMUST00000111758] [ENSMUST00000171349] [ENSMUST00000203187] [ENSMUST00000203673] [ENSMUST00000204655] [ENSMUST00000204140] [ENSMUST00000205119]
AlphaFold Q7TPS5
Predicted Effect probably damaging
Transcript: ENSMUST00000087485
AA Change: Y98H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: Y98H

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 damaging
Transcript: ENSMUST00000111758
AA Change: Y98H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: Y98H

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
AA Change: Y98H

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: Y98H

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
AA Change: Y98H

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: Y98H

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 noncoding transcript
Transcript: ENSMUST00000203537
Predicted Effect probably benign
Transcript: ENSMUST00000203673
AA Change: Y98H

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: Y98H

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
AA Change: Y98H

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: Y98H

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: ENSMUST00000204140
AA Change: Y98H

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000145173
Gene: ENSMUSG00000030279
AA Change: Y98H

DomainStartEndE-ValueType
C2 4 105 7.3e-18 SMART
Blast:C2 127 177 1e-26 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000205119
SMART Domains Protein: ENSMUSP00000145397
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
Pfam:C2 3 70 5.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204160
Meta Mutation Damage Score 0.0627 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign 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
IGL02926:C2cd5 APN 6 142,976,963 (GRCm39) splice site probably benign
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