Incidental Mutation 'IGL03294:Clca2'
ID416005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clca2
Ensembl Gene ENSMUSG00000036960
Gene Namechloride channel accessory 2
SynonymsClca5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03294
Quality Score
Status
Chromosome3
Chromosomal Location145070263-145099443 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 145097769 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 105 (S105P)
Ref Sequence ENSEMBL: ENSMUSP00000143161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040465] [ENSMUST00000198993]
Predicted Effect probably damaging
Transcript: ENSMUST00000040465
AA Change: S105P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036029
Gene: ENSMUSG00000036960
AA Change: S105P

DomainStartEndE-ValueType
low complexity region 15 29 N/A INTRINSIC
VWA 309 485 3.55e-5 SMART
low complexity region 739 754 N/A INTRINSIC
Blast:FN3 765 875 5e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197121
Predicted Effect probably damaging
Transcript: ENSMUST00000198993
AA Change: S105P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143161
Gene: ENSMUSG00000036960
AA Change: S105P

DomainStartEndE-ValueType
Pfam:CLCA_N 7 265 1.7e-121 PFAM
VWA 309 485 2.2e-7 SMART
Pfam:DUF1973 494 674 7.8e-75 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. Mice lacking a functional copy of this gene exhibit increased liver weight and hepatocyte hypertrophy. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit increases in liver weight to body weight ratio and hepatocyte hypertrophy; one incidence of multifocal hepatic necrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,958,438 M119L probably benign Het
Akap10 A T 11: 61,877,353 V646D probably damaging Het
Aldh3a1 A G 11: 61,214,722 Y218C probably damaging Het
Arfgef3 T A 10: 18,664,912 L174F probably damaging Het
Arhgef6 T C X: 57,336,978 K99E possibly damaging Het
Atp9a T C 2: 168,689,305 K163E probably benign Het
Birc6 C T 17: 74,649,886 A3605V probably benign Het
C8b G A 4: 104,780,691 R120Q probably benign Het
Ccr1l1 A C 9: 123,978,407 M1R probably null Het
Cntnap1 A G 11: 101,181,682 T502A possibly damaging Het
Ddx10 C T 9: 53,117,152 probably null Het
Dnah5 G A 15: 28,233,295 probably null Het
Dock9 A T 14: 121,641,623 probably benign Het
Gli2 A G 1: 118,837,436 V995A probably benign Het
Gpr34 T C X: 13,639,549 Y106H probably damaging Het
Kmt2a A T 9: 44,820,565 probably benign Het
Lamc1 C A 1: 153,262,646 R154L probably damaging Het
Mat1a T A 14: 41,105,604 V5E probably benign Het
Meioc A T 11: 102,680,669 E943V probably damaging Het
Mtcl1 G A 17: 66,338,019 P1478S probably damaging Het
Nav2 C T 7: 49,491,457 R917* probably null Het
Olfr1317 T C 2: 112,142,173 I76T probably benign Het
Olfr850 T C 9: 19,477,989 N87S possibly damaging Het
Pcsk9 T A 4: 106,446,770 I506L probably benign Het
Phf14 T A 6: 11,953,367 D368E probably damaging Het
Phka1 C A X: 102,537,213 S964I probably damaging Het
Pikfyve G A 1: 65,247,067 R1155Q probably damaging Het
Plin2 C T 4: 86,662,078 V60M probably damaging Het
Ptpn9 A G 9: 57,027,387 Q145R possibly damaging Het
Sap30 A G 8: 57,487,301 I89T probably damaging Het
Sec61a2 T C 2: 5,876,465 probably null Het
Slc34a2 A C 5: 53,063,998 D262A probably benign Het
Slc6a3 G A 13: 73,557,181 probably null Het
Slfn4 A T 11: 83,186,574 T63S probably benign Het
Tbx10 A T 19: 3,998,571 probably benign Het
Tie1 A T 4: 118,480,223 N501K probably damaging Het
Tmprss11f A T 5: 86,538,107 Y134N probably damaging Het
Uevld A T 7: 46,931,030 D361E possibly damaging Het
Ugt1a5 A C 1: 88,166,815 D255A probably damaging Het
Vmn2r11 A G 5: 109,054,069 F190L probably benign Het
Wfs1 G A 5: 36,975,597 R113C probably damaging Het
Yipf5 T G 18: 40,206,396 M206L probably benign Het
Zbtb10 A G 3: 9,280,987 D847G probably benign Het
Zfp786 T A 6: 47,821,324 K227* probably null Het
Other mutations in Clca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Clca2 APN 3 145098813 missense probably damaging 1.00
IGL01337:Clca2 APN 3 145095178 missense probably damaging 1.00
IGL01389:Clca2 APN 3 145077868 critical splice donor site probably null
IGL01595:Clca2 APN 3 145088007 missense probably damaging 1.00
IGL01704:Clca2 APN 3 145095218 missense probably benign 0.04
IGL02416:Clca2 APN 3 145085016 missense probably benign 0.02
IGL02455:Clca2 APN 3 145081411 missense probably benign 0.00
IGL02481:Clca2 APN 3 145084940 missense possibly damaging 0.92
IGL02526:Clca2 APN 3 145088018 missense probably benign 0.02
IGL02797:Clca2 APN 3 145081263 missense probably benign 0.02
IGL03253:Clca2 APN 3 145071563 missense probably benign 0.41
IGL03256:Clca2 APN 3 145086392 missense possibly damaging 0.75
3370:Clca2 UTSW 3 145077977 missense probably damaging 1.00
R0479:Clca2 UTSW 3 145090849 missense probably damaging 1.00
R0542:Clca2 UTSW 3 145075810 splice site probably benign
R0629:Clca2 UTSW 3 145072239 missense probably benign
R1488:Clca2 UTSW 3 145084164 missense possibly damaging 0.49
R1523:Clca2 UTSW 3 145071644 nonsense probably null
R1568:Clca2 UTSW 3 145075649 nonsense probably null
R1650:Clca2 UTSW 3 145092212 missense probably damaging 1.00
R1771:Clca2 UTSW 3 145081410 missense probably benign 0.12
R2101:Clca2 UTSW 3 145077938 missense probably damaging 0.99
R2242:Clca2 UTSW 3 145090790 missense probably damaging 0.98
R3751:Clca2 UTSW 3 145071455 missense probably benign 0.04
R4496:Clca2 UTSW 3 145092165 missense possibly damaging 0.94
R4962:Clca2 UTSW 3 145077879 missense probably damaging 1.00
R5344:Clca2 UTSW 3 145087942 missense probably damaging 1.00
R5424:Clca2 UTSW 3 145084181 missense probably damaging 0.99
R5931:Clca2 UTSW 3 145092125 missense possibly damaging 0.88
R6181:Clca2 UTSW 3 145090708 nonsense probably null
R6598:Clca2 UTSW 3 145086485 nonsense probably null
R7167:Clca2 UTSW 3 145097784 missense probably benign 0.40
R7229:Clca2 UTSW 3 145084108 missense probably damaging 1.00
R7256:Clca2 UTSW 3 145090847 missense probably damaging 0.99
X0025:Clca2 UTSW 3 145086504 missense possibly damaging 0.87
Posted On2016-08-02