Incidental Mutation 'IGL02232:C2cd6'
ID285777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C2cd6
Ensembl Gene ENSMUSG00000072295
Gene NameC2 calcium dependent domain containing 6
Synonyms4930408G06Rik, Als2cr11, 1700052H20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL02232
Quality Score
Status
Chromosome1
Chromosomal Location59050506-59094900 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59062492 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 336 (F336S)
Ref Sequence ENSEMBL: ENSMUSP00000094845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097080]
Predicted Effect probably damaging
Transcript: ENSMUST00000097080
AA Change: F336S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094845
Gene: ENSMUSG00000072295
AA Change: F336S

DomainStartEndE-ValueType
low complexity region 99 126 N/A INTRINSIC
Pfam:ALS2CR11 128 533 1.2e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188707
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Cd274 T A 19: 29,382,538 L248M probably damaging Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdh10 A G 3: 45,380,942 I564V probably benign Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Pemt T A 11: 59,976,854 T115S probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc2a9 G A 5: 38,436,670 A150V probably benign Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Slc7a6 G A 8: 106,196,574 C495Y possibly damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tmem41b A G 7: 109,978,753 V108A probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in C2cd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:C2cd6 APN 1 59077945 missense probably damaging 0.97
IGL01012:C2cd6 APN 1 58997348 unclassified probably benign
IGL01682:C2cd6 APN 1 59062501 missense probably damaging 1.00
IGL01834:C2cd6 APN 1 58997445 unclassified probably benign
IGL01982:C2cd6 APN 1 59067773 splice site probably benign
IGL02027:C2cd6 APN 1 59060604 missense probably benign 0.12
IGL02069:C2cd6 APN 1 59052541 splice site probably benign
IGL02280:C2cd6 APN 1 59077881 critical splice donor site probably null
IGL02392:C2cd6 APN 1 59094838 missense probably benign 0.00
IGL02440:C2cd6 APN 1 59075100 missense probably benign 0.14
IGL02469:C2cd6 APN 1 58997481 unclassified probably benign
IGL02660:C2cd6 APN 1 59051230 missense probably damaging 1.00
IGL02720:C2cd6 APN 1 59051148 missense probably damaging 0.98
IGL03340:C2cd6 APN 1 59076671 missense probably benign 0.07
R1472:C2cd6 UTSW 1 59067785 missense possibly damaging 0.92
R1476:C2cd6 UTSW 1 59076728 splice site probably benign
R1753:C2cd6 UTSW 1 59094833 missense possibly damaging 0.53
R3724:C2cd6 UTSW 1 59066235 splice site probably benign
R4887:C2cd6 UTSW 1 59094734 missense probably benign 0.00
R5115:C2cd6 UTSW 1 59051261 missense probably benign 0.12
R6406:C2cd6 UTSW 1 59058676 missense possibly damaging 0.60
R6467:C2cd6 UTSW 1 59077934 missense probably benign 0.01
R6697:C2cd6 UTSW 1 59051088 small deletion probably benign
R6801:C2cd6 UTSW 1 59094583 frame shift probably null
R6882:C2cd6 UTSW 1 59066159 missense probably damaging 0.99
R7468:C2cd6 UTSW 1 59068685 missense probably benign
R7821:C2cd6 UTSW 1 59067792 nonsense probably null
Posted On2015-04-16