Incidental Mutation 'R8863:C2cd5'
ID 675762
Institutional Source Beutler Lab
Gene Symbol C2cd5
Ensembl Gene ENSMUSG00000030279
Gene Name C2 calcium-dependent domain containing 5
Synonyms 5730419I09Rik, CDP138, C030008B15Rik
MMRRC Submission 068679-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R8863 (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 142987088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 505 (I505V)
Ref Sequence ENSEMBL: ENSMUSP00000107388 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087485] [ENSMUST00000111758] [ENSMUST00000171349] [ENSMUST00000203187] [ENSMUST00000203673] [ENSMUST00000204043] [ENSMUST00000204655] [ENSMUST00000205119]
AlphaFold Q7TPS5
Predicted Effect possibly damaging
Transcript: ENSMUST00000087485
AA Change: I505V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: I505V

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 possibly damaging
Transcript: ENSMUST00000111758
AA Change: I505V

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: I505V

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 possibly damaging
Transcript: ENSMUST00000171349
AA Change: I514V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: I514V

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 possibly damaging
Transcript: ENSMUST00000203187
AA Change: I514V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: I514V

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 damaging
Transcript: ENSMUST00000203673
AA Change: I516V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: I516V

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
SMART Domains Protein: ENSMUSP00000145382
Gene: ENSMUSG00000030279

DomainStartEndE-ValueType
transmembrane domain 23 45 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000204655
AA Change: I514V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: I514V

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 100% (44/44)
Allele List at MGI

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

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A G 7: 127,836,123 (GRCm39) S157P possibly damaging Het
Aasdhppt C A 9: 4,309,424 (GRCm39) A5S possibly damaging Het
Aoc1l2 T C 6: 48,907,042 (GRCm39) L14P probably benign Het
Asb16 T C 11: 102,168,058 (GRCm39) Y373H probably damaging Het
Axin1 T C 17: 26,362,375 (GRCm39) S240P probably benign Het
Camk2g A G 14: 20,810,244 (GRCm39) L305P probably damaging Het
Ccm2 A G 11: 6,535,211 (GRCm39) K156E probably damaging Het
Cdh23 G T 10: 60,212,613 (GRCm39) Y1600* probably null Het
Cyp2c29 A G 19: 39,261,810 (GRCm39) Q16R probably benign Het
Ebf1 T A 11: 44,774,666 (GRCm39) V221E probably damaging Het
Fcgbpl1 A G 7: 27,831,006 (GRCm39) D73G probably damaging Het
Gtpbp1 A G 15: 79,591,262 (GRCm39) E125G possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igfbp3 A G 11: 7,163,568 (GRCm39) C75R probably damaging Het
Itgb4 T A 11: 115,875,898 (GRCm39) C478* probably null Het
L3mbtl4 T A 17: 68,986,419 (GRCm39) C488S probably benign Het
Lysmd4 T C 7: 66,873,493 (GRCm39) S43P probably damaging Het
Mocs2 A G 13: 114,962,815 (GRCm39) K167E probably damaging Het
Mpl C A 4: 118,314,602 (GRCm39) V23F Het
Muc4 A T 16: 32,570,280 (GRCm39) I447F possibly damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Ncf2 A G 1: 152,711,864 (GRCm39) *526W probably null Het
Oas1a C T 5: 121,043,943 (GRCm39) G63D probably damaging Het
Or2q1 A T 6: 42,794,780 (GRCm39) Y125F probably damaging Het
Or5ac15 G T 16: 58,939,712 (GRCm39) C240* probably null Het
Or8c17 T C 9: 38,180,655 (GRCm39) V274A probably damaging Het
Piwil4 T C 9: 14,631,383 (GRCm39) N409S probably benign Het
Pkhd1l1 C T 15: 44,433,382 (GRCm39) Q3421* probably null Het
Plekha7 T A 7: 115,753,875 (GRCm39) D664V probably damaging Het
Pole T C 5: 110,437,233 (GRCm39) M66T possibly damaging Het
Pon2 C T 6: 5,265,480 (GRCm39) probably null Het
Pop4 G A 7: 37,962,649 (GRCm39) A205V possibly damaging Het
Ppp6r3 T A 19: 3,521,030 (GRCm39) E590D probably damaging Het
Ptpn6 T A 6: 124,709,309 (GRCm39) I96F probably damaging Het
Rfk T A 19: 17,372,590 (GRCm39) N37K probably benign Het
Syne1 G T 10: 5,049,527 (GRCm39) Q7535K probably damaging Het
Tcf15 A T 2: 151,986,023 (GRCm39) I160F probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem160 T C 7: 16,186,889 (GRCm39) M1T probably null Het
Tpp1 C T 7: 105,398,814 (GRCm39) R205H probably benign Het
Trnt1 T C 6: 106,751,443 (GRCm39) F140S probably damaging Het
Ttf1 T C 2: 28,969,492 (GRCm39) probably null Het
Vmn1r172 A T 7: 23,359,210 (GRCm39) I32F probably benign Het
Vwc2l T A 1: 70,768,063 (GRCm39) N42K possibly 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
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
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'- TCTGTGCGTACAAACTTGAGTG -3'
(R):5'- ACCCTGATCAGAGTGCCTTCTTAC -3'

Sequencing Primer
(F):5'- GTGCGTACAAACTTGAGTGTTATAG -3'
(R):5'- TAGGATTGAAGAGAATTTACCGGTG -3'
Posted On 2021-07-15