Incidental Mutation 'IGL01786:Slc44a2'
ID 155070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc44a2
Ensembl Gene ENSMUSG00000057193
Gene Name solute carrier family 44, member 2
Synonyms CTL2, 1110028E10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01786
Quality Score
Status
Chromosome 9
Chromosomal Location 21232015-21266324 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21263782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 650 (Y650C)
Ref Sequence ENSEMBL: ENSMUSP00000034697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]
AlphaFold Q8BY89
Predicted Effect probably damaging
Transcript: ENSMUST00000034697
AA Change: Y650C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: Y650C

DomainStartEndE-ValueType
Blast:CLECT 4 37 8e-8 BLAST
transmembrane domain 231 253 N/A INTRINSIC
transmembrane domain 255 277 N/A INTRINSIC
Pfam:Choline_transpo 319 678 3.9e-119 PFAM
low complexity region 691 702 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213499
Predicted Effect unknown
Transcript: ENSMUST00000213535
AA Change: Y48C
Predicted Effect unknown
Transcript: ENSMUST00000214268
AA Change: Y107C
Predicted Effect probably benign
Transcript: ENSMUST00000215574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217453
Predicted Effect probably damaging
Transcript: ENSMUST00000217461
AA Change: Y648C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 T A 8: 25,486,855 (GRCm39) H20L probably damaging Het
Ano3 T A 2: 110,513,060 (GRCm39) Q645L probably damaging Het
Clasp1 T A 1: 118,425,466 (GRCm39) L272Q possibly damaging Het
Corin T C 5: 72,497,219 (GRCm39) N532S probably damaging Het
Ddx1 A T 12: 13,279,137 (GRCm39) D468E probably benign Het
Hk2 A G 6: 82,716,534 (GRCm39) S333P probably benign Het
Kctd19 T C 8: 106,116,936 (GRCm39) T398A probably benign Het
Klra8 T A 6: 130,096,031 (GRCm39) probably null Het
Mcm8 A G 2: 132,669,868 (GRCm39) D314G probably benign Het
Mga T A 2: 119,733,393 (GRCm39) D80E probably damaging Het
Mylk3 T C 8: 86,085,946 (GRCm39) Q36R probably benign Het
Myom2 T C 8: 15,156,330 (GRCm39) S726P probably damaging Het
Nuf2 T C 1: 169,338,052 (GRCm39) S242G possibly damaging Het
Nup210l T A 3: 90,030,083 (GRCm39) Y265* probably null Het
Or12j3 T A 7: 139,953,038 (GRCm39) M162L probably benign Het
Or5b12b C T 19: 12,861,641 (GRCm39) T132I probably damaging Het
Otud3 T C 4: 138,624,208 (GRCm39) D278G probably benign Het
Papolg A G 11: 23,824,488 (GRCm39) V298A probably damaging Het
Phc1 T C 6: 122,296,479 (GRCm39) D847G possibly damaging Het
Pkd2l1 A G 19: 44,179,881 (GRCm39) F110L probably damaging Het
Plxnd1 T A 6: 115,936,896 (GRCm39) T1638S probably damaging Het
Polr3a G A 14: 24,534,188 (GRCm39) Q106* probably null Het
Rnf32 T C 5: 29,411,812 (GRCm39) probably benign Het
Slc30a9 A G 5: 67,503,581 (GRCm39) probably benign Het
Sv2a A T 3: 96,095,525 (GRCm39) Y306F probably benign Het
Tmem50a T C 4: 134,625,758 (GRCm39) E153G probably damaging Het
Tor1a A G 2: 30,853,715 (GRCm39) probably null Het
Trarg1 G A 11: 76,571,292 (GRCm39) V103I probably benign Het
Usp20 A G 2: 30,907,175 (GRCm39) E594G probably benign Het
Other mutations in Slc44a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Slc44a2 APN 9 21,257,231 (GRCm39) missense probably damaging 0.96
IGL01506:Slc44a2 APN 9 21,249,246 (GRCm39) missense probably benign 0.30
IGL01687:Slc44a2 APN 9 21,257,243 (GRCm39) missense probably benign 0.00
IGL01795:Slc44a2 APN 9 21,256,645 (GRCm39) missense probably damaging 0.97
IGL02338:Slc44a2 APN 9 21,258,338 (GRCm39) missense probably damaging 1.00
IGL02701:Slc44a2 APN 9 21,259,247 (GRCm39) missense probably benign 0.01
IGL02820:Slc44a2 APN 9 21,254,273 (GRCm39) missense probably benign
IGL03087:Slc44a2 APN 9 21,258,061 (GRCm39) missense probably benign 0.00
IGL03153:Slc44a2 APN 9 21,254,496 (GRCm39) missense probably benign 0.44
IGL03233:Slc44a2 APN 9 21,259,918 (GRCm39) missense possibly damaging 0.95
freighted UTSW 9 21,253,265 (GRCm39) missense probably null 0.08
Loaded UTSW 9 21,259,445 (GRCm39) critical splice donor site probably null
R1177:Slc44a2 UTSW 9 21,259,879 (GRCm39) missense probably benign 0.00
R1367:Slc44a2 UTSW 9 21,254,322 (GRCm39) missense probably benign 0.00
R1474:Slc44a2 UTSW 9 21,264,990 (GRCm39) missense probably damaging 0.99
R2077:Slc44a2 UTSW 9 21,265,020 (GRCm39) missense probably damaging 1.00
R2432:Slc44a2 UTSW 9 21,256,130 (GRCm39) missense probably damaging 1.00
R3722:Slc44a2 UTSW 9 21,254,273 (GRCm39) missense possibly damaging 0.78
R3958:Slc44a2 UTSW 9 21,259,837 (GRCm39) missense probably damaging 0.96
R4557:Slc44a2 UTSW 9 21,258,079 (GRCm39) missense possibly damaging 0.93
R4641:Slc44a2 UTSW 9 21,258,178 (GRCm39) missense probably damaging 1.00
R4725:Slc44a2 UTSW 9 21,259,691 (GRCm39) missense probably damaging 1.00
R4859:Slc44a2 UTSW 9 21,259,441 (GRCm39) missense probably damaging 0.98
R6701:Slc44a2 UTSW 9 21,232,149 (GRCm39) critical splice donor site probably null
R7068:Slc44a2 UTSW 9 21,232,144 (GRCm39) missense probably benign 0.00
R7206:Slc44a2 UTSW 9 21,258,103 (GRCm39) missense probably damaging 1.00
R7233:Slc44a2 UTSW 9 21,259,445 (GRCm39) critical splice donor site probably null
R7287:Slc44a2 UTSW 9 21,253,752 (GRCm39) missense probably benign
R7329:Slc44a2 UTSW 9 21,254,048 (GRCm39) missense probably damaging 1.00
R7432:Slc44a2 UTSW 9 21,254,511 (GRCm39) missense probably benign 0.00
R7442:Slc44a2 UTSW 9 21,256,819 (GRCm39) missense probably damaging 1.00
R7448:Slc44a2 UTSW 9 21,259,642 (GRCm39) missense possibly damaging 0.87
R7514:Slc44a2 UTSW 9 21,253,768 (GRCm39) missense possibly damaging 0.46
R7523:Slc44a2 UTSW 9 21,257,288 (GRCm39) missense probably null 0.81
R8167:Slc44a2 UTSW 9 21,258,068 (GRCm39) missense possibly damaging 0.67
R8211:Slc44a2 UTSW 9 21,259,434 (GRCm39) missense probably damaging 1.00
R8240:Slc44a2 UTSW 9 21,253,481 (GRCm39) missense probably benign
R8293:Slc44a2 UTSW 9 21,264,984 (GRCm39) missense probably damaging 1.00
R8294:Slc44a2 UTSW 9 21,259,643 (GRCm39) missense probably damaging 1.00
R8341:Slc44a2 UTSW 9 21,253,495 (GRCm39) missense probably benign 0.00
R8471:Slc44a2 UTSW 9 21,253,265 (GRCm39) missense probably null 0.08
R8732:Slc44a2 UTSW 9 21,259,882 (GRCm39) missense probably benign 0.01
R8892:Slc44a2 UTSW 9 21,253,153 (GRCm39) splice site probably benign
R9019:Slc44a2 UTSW 9 21,265,077 (GRCm39) missense probably damaging 0.99
R9149:Slc44a2 UTSW 9 21,253,305 (GRCm39) missense possibly damaging 0.67
R9318:Slc44a2 UTSW 9 21,253,268 (GRCm39) missense probably damaging 1.00
R9322:Slc44a2 UTSW 9 21,258,246 (GRCm39) missense probably damaging 1.00
R9449:Slc44a2 UTSW 9 21,258,333 (GRCm39) missense
R9731:Slc44a2 UTSW 9 21,263,770 (GRCm39) missense possibly damaging 0.90
X0018:Slc44a2 UTSW 9 21,254,084 (GRCm39) missense probably damaging 0.99
Posted On 2014-02-04