Incidental Mutation 'R1494:C2cd5'
ID 163809
Institutional Source Beutler Lab
Gene Symbol C2cd5
Ensembl Gene ENSMUSG00000030279
Gene Name C2 calcium-dependent domain containing 5
Synonyms 5730419I09Rik, CDP138, C030008B15Rik
MMRRC Submission 039545-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R1494 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142956646-143045867 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 142987072 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] [ENSMUST00000204043]
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
Predicted Effect probably benign
Transcript: ENSMUST00000204043
SMART Domains Protein: ENSMUSP00000145382
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.3%
Validation Efficiency 97% (57/59)
Allele List at MGI

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

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,991 (GRCm39) E92G probably benign Het
Abca13 C T 11: 9,416,429 (GRCm39) Q4064* probably null Het
Abca14 G A 7: 119,815,524 (GRCm39) M257I probably benign Het
Acsm2 T A 7: 119,174,855 (GRCm39) C207S probably damaging Het
Actr3 A G 1: 125,344,018 (GRCm39) I67T probably benign Het
Adcy7 T C 8: 89,046,835 (GRCm39) V606A probably benign Het
Ahnak2 G A 12: 112,751,570 (GRCm39) S54F probably damaging Het
Ano6 T C 15: 95,870,388 (GRCm39) S848P probably damaging Het
Atg3 C T 16: 44,992,123 (GRCm39) probably benign Het
Atp8b1 T A 18: 64,697,597 (GRCm39) S416C probably damaging Het
Capn11 A T 17: 45,954,735 (GRCm39) V134E probably damaging Het
Ccnd3 A G 17: 47,909,033 (GRCm39) probably null Het
Chaf1b T A 16: 93,684,998 (GRCm39) V149E probably damaging Het
Col5a2 T A 1: 45,542,074 (GRCm39) M1L unknown Het
Copa T C 1: 171,931,694 (GRCm39) I315T probably benign Het
Cyp3a57 A G 5: 145,318,077 (GRCm39) M353V probably damaging Het
Dcaf6 T C 1: 165,160,942 (GRCm39) M828V probably damaging Het
Dock2 T A 11: 34,232,761 (GRCm39) K1080* probably null Het
Dock6 A G 9: 21,726,038 (GRCm39) V1424A probably benign Het
Foxa1 T C 12: 57,588,984 (GRCm39) D412G probably damaging Het
Foxp4 G C 17: 48,191,278 (GRCm39) probably benign Het
Galnt9 T A 5: 110,736,196 (GRCm39) S171T probably damaging Het
Glt6d1 A G 2: 25,684,260 (GRCm39) Y249H probably damaging Het
Gm37240 A T 3: 84,434,998 (GRCm39) Y104N probably damaging Het
Gpx8 C T 13: 113,182,149 (GRCm39) E95K possibly damaging Het
Grm1 T C 10: 10,565,450 (GRCm39) T953A probably benign Het
Helz T C 11: 107,494,889 (GRCm39) probably benign Het
Hif3a T C 7: 16,788,647 (GRCm39) Y108C probably damaging Het
Kcnj13 A T 1: 87,316,939 (GRCm39) L58Q probably damaging Het
Mfsd14b A T 13: 65,243,485 (GRCm39) V53D probably damaging Het
Mrps7 G C 11: 115,494,952 (GRCm39) probably benign Het
Mug1 G A 6: 121,856,259 (GRCm39) G1013D probably damaging Het
Or52h7 T A 7: 104,214,038 (GRCm39) Y203* probably null Het
Or6c8 A T 10: 128,915,484 (GRCm39) M116K probably damaging Het
Pax6 T C 2: 105,521,955 (GRCm39) I19T probably benign Het
Pde8b G A 13: 95,184,304 (GRCm39) R416C probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Pygl G A 12: 70,246,504 (GRCm39) R348W probably damaging Het
Ralgapa1 T A 12: 55,731,309 (GRCm39) D1874V probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sncaip T C 18: 53,001,958 (GRCm39) S160P probably damaging Het
Sptbn4 A G 7: 27,133,719 (GRCm39) V79A probably damaging Het
Sptlc3 A T 2: 139,431,480 (GRCm39) Y334F possibly damaging Het
Supt16 A G 14: 52,409,916 (GRCm39) Y764H probably benign Het
Syne3 A T 12: 104,921,841 (GRCm39) V438E possibly damaging Het
Tagap1 T C 17: 7,224,210 (GRCm39) D162G probably damaging Het
Terb1 T C 8: 105,225,122 (GRCm39) probably benign Het
Themis3 C A 17: 66,866,949 (GRCm39) R97L probably benign Het
Tnk1 T A 11: 69,747,372 (GRCm39) E86D possibly damaging Het
Tnpo3 A G 6: 29,557,043 (GRCm39) L53P probably damaging Het
Trpc6 G A 9: 8,658,305 (GRCm39) R725K probably benign Het
Ttll11 T G 2: 35,685,391 (GRCm39) T566P probably damaging Het
Unc5c A T 3: 141,533,310 (GRCm39) T779S possibly damaging Het
Zfp42 A G 8: 43,748,638 (GRCm39) C288R possibly damaging Het
Zfp763 G A 17: 33,240,477 (GRCm39) T52I 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTGAATTTTGCATGGAGGAAGCAC -3'
(R):5'- TGATGAACTGAACATGCCGTTTCCC -3'

Sequencing Primer
(F):5'- GGTCTCTAAAGCAGATATTTAGCC -3'
(R):5'- CGCTCATCTCACATATTGCTATAAC -3'
Posted On 2014-03-28