Incidental Mutation 'R6165:C2cd5'
ID 490088
Institutional Source Beutler Lab
Gene Symbol C2cd5
Ensembl Gene ENSMUSG00000030279
Gene Name C2 calcium-dependent domain containing 5
Synonyms 5730419I09Rik, CDP138, C030008B15Rik
MMRRC Submission 044311-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R6165 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142956646-143045867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142995954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 389 (T389A)
Ref Sequence ENSEMBL: ENSMUSP00000145425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087485] [ENSMUST00000111758] [ENSMUST00000171349] [ENSMUST00000203187] [ENSMUST00000203673] [ENSMUST00000204043] [ENSMUST00000204655] [ENSMUST00000205119]
AlphaFold Q7TPS5
Predicted Effect probably benign
Transcript: ENSMUST00000087485
AA Change: T378A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: T378A

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
AA Change: T378A

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: T378A

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: T387A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: T387A

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: T387A

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: T387A

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 possibly damaging
Transcript: ENSMUST00000203673
AA Change: T389A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: T389A

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: ENSMUST00000204043
AA Change: T84A

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000145382
Gene: ENSMUSG00000030279
AA Change: T84A

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204655
AA Change: T387A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: T387A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204233
Meta Mutation Damage Score 0.0925 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.1%
Validation Efficiency 98% (47/48)
Allele List at MGI

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

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,590,623 (GRCm39) E303G possibly damaging Het
Atosa A G 9: 74,932,954 (GRCm39) T974A probably damaging Het
Catsperb T A 12: 101,542,075 (GRCm39) Y592N possibly damaging Het
Cfap91 A G 16: 38,154,173 (GRCm39) F124S possibly damaging Het
Cnot9 T C 1: 74,567,952 (GRCm39) V280A probably benign Het
Cyld A G 8: 89,473,561 (GRCm39) I927V possibly damaging Het
Etfdh A T 3: 79,512,251 (GRCm39) S490T probably benign Het
Fance C T 17: 28,545,068 (GRCm39) R150C probably benign Het
Far1 A G 7: 113,153,425 (GRCm39) K353E probably benign Het
Fbn1 T C 2: 125,174,283 (GRCm39) I1858V probably damaging Het
Frem1 T C 4: 82,874,492 (GRCm39) K1359E probably benign Het
Ghdc T G 11: 100,659,928 (GRCm39) E273A possibly damaging Het
Gpt A G 15: 76,582,170 (GRCm39) D209G probably benign Het
Hspb7 T C 4: 141,149,862 (GRCm39) F83L probably benign Het
Itga7 A G 10: 128,778,804 (GRCm39) I306M probably benign Het
Itgb5 A G 16: 33,719,612 (GRCm39) E261G probably benign Het
Kcnj14 G T 7: 45,469,424 (GRCm39) A27E possibly damaging Het
Kif13b A G 14: 64,979,760 (GRCm39) H470R probably damaging Het
Macroh2a1 A T 13: 56,252,268 (GRCm39) N108K probably damaging Het
Morc3 T C 16: 93,638,271 (GRCm39) F18L probably damaging Het
Mrgprb8 T A 7: 48,038,565 (GRCm39) C79S possibly damaging Het
Mroh2b T A 15: 4,947,832 (GRCm39) M549K probably benign Het
Msl1 T C 11: 98,695,673 (GRCm39) V563A probably damaging Het
Nwd1 C T 8: 73,388,814 (GRCm39) R81W probably damaging Het
Or5b124 A T 19: 13,610,507 (GRCm39) I11F possibly damaging Het
Or5b124 C T 19: 13,610,952 (GRCm39) A159V probably benign Het
Phf2 C A 13: 48,967,341 (GRCm39) probably null Het
Pjvk T G 2: 76,480,562 (GRCm39) probably null Het
Rgl2 A G 17: 34,150,739 (GRCm39) T66A probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtkn G T 6: 83,122,944 (GRCm39) E67D probably damaging Het
Serpinb9 T A 13: 33,192,807 (GRCm39) F121L possibly damaging Het
Slc34a1 G A 13: 23,999,053 (GRCm39) V149I probably benign Het
Sobp A G 10: 42,898,599 (GRCm39) S329P probably damaging Het
Syne1 A T 10: 5,375,678 (GRCm39) L138Q probably damaging Het
Tfr2 T A 5: 137,578,519 (GRCm39) V449D probably damaging Het
Tmem151b T C 17: 45,856,711 (GRCm39) Y243C probably damaging Het
Trank1 T C 9: 111,220,940 (GRCm39) V2559A probably benign Het
Trim35 T C 14: 66,546,654 (GRCm39) Y474H probably damaging Het
Uso1 A T 5: 92,335,126 (GRCm39) L495F probably damaging Het
Wdr24 A G 17: 26,045,395 (GRCm39) I377V probably benign Het
Xpo5 T A 17: 46,546,883 (GRCm39) V878D possibly damaging Het
Zfc3h1 A G 10: 115,256,574 (GRCm39) I1515V probably benign Het
Zfp319 CA C 8: 96,054,733 (GRCm39) 489 probably null Het
Zfp384 T G 6: 125,001,896 (GRCm39) probably null Het
Zfp704 G T 3: 9,508,946 (GRCm39) P416T probably benign Het
Zfr C T 15: 12,146,331 (GRCm39) A294V unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- CGTATTGCTCCAGCTCACAC -3'
(R):5'- CCTTGACATGGTAGCGCTAG -3'

Sequencing Primer
(F):5'- GTATTGCTCCAGCTCACACAATCAG -3'
(R):5'- CAGAGTGGTCTGTCCTAGCAATAC -3'
Posted On 2017-10-10