Incidental Mutation 'R4557:Slc44a2'
ID 341907
Institutional Source Beutler Lab
Gene Symbol Slc44a2
Ensembl Gene ENSMUSG00000057193
Gene Name solute carrier family 44, member 2
Synonyms CTL2, 1110028E10Rik
MMRRC Submission 041784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4557 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 21232015-21266324 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21258079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 443 (L443R)
Ref Sequence ENSEMBL: ENSMUSP00000034697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]
AlphaFold Q8BY89
Predicted Effect possibly damaging
Transcript: ENSMUST00000034697
AA Change: L443R

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: L443R

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 probably benign
Transcript: ENSMUST00000213535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213758
Predicted Effect probably benign
Transcript: ENSMUST00000214268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215528
Predicted Effect possibly damaging
Transcript: ENSMUST00000215574
AA Change: L441R

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000217461
AA Change: L441R

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216266
Meta Mutation Damage Score 0.0658 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (49/50)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,667,937 (GRCm39) probably benign Het
Acad11 T C 9: 103,960,038 (GRCm39) F219L probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Adamts3 A G 5: 89,848,346 (GRCm39) Y659H probably benign Het
Adgrb3 T C 1: 25,123,360 (GRCm39) R1414G probably damaging Het
Apba1 T A 19: 23,894,956 (GRCm39) I464N probably damaging Het
Bahcc1 A G 11: 120,165,914 (GRCm39) T1057A probably damaging Het
Bcl11a A G 11: 24,114,004 (GRCm39) E449G probably damaging Het
Ccdc162 T A 10: 41,463,384 (GRCm39) I1453L probably benign Het
Ccdc175 T A 12: 72,175,080 (GRCm39) E531V probably benign Het
Cep68 A T 11: 20,189,113 (GRCm39) probably benign Het
Dlgap1 C A 17: 70,823,684 (GRCm39) T223K probably benign Het
Exoc1 G A 5: 76,709,290 (GRCm39) V24M probably damaging Het
Fbxo4 A G 15: 3,995,187 (GRCm39) *386R probably null Het
Gm10100 G A 10: 77,562,365 (GRCm39) probably benign Het
Gpr149 A G 3: 62,438,291 (GRCm39) V622A probably damaging Het
Gpr149 A C 3: 62,511,918 (GRCm39) M27R probably benign Het
Ighv3-6 T C 12: 114,251,818 (GRCm39) N101D probably benign Het
Igkv4-78 A G 6: 69,036,755 (GRCm39) S93P possibly damaging Het
Kmt2c A T 5: 25,505,313 (GRCm39) W3332R probably damaging Het
Marf1 T C 16: 13,971,841 (GRCm39) probably benign Het
Mcrs1 A G 15: 99,141,028 (GRCm39) I459T probably benign Het
Mdn1 G T 4: 32,754,437 (GRCm39) C4646F probably damaging Het
Med17 T C 9: 15,182,993 (GRCm39) K351E possibly damaging Het
Nalcn T C 14: 123,558,647 (GRCm39) probably benign Het
Or14j8 C A 17: 38,263,142 (GRCm39) A258S probably benign Het
Or1e29 G A 11: 73,667,307 (GRCm39) T282I possibly damaging Het
Or1r1 A T 11: 73,875,425 (GRCm39) V3E probably benign Het
Or6c69 A G 10: 129,747,398 (GRCm39) Y250H probably damaging Het
Phrf1 C T 7: 140,838,842 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,153,085 (GRCm39) Q135R probably benign Het
Prdm16 T A 4: 154,613,284 (GRCm39) M48L probably benign Het
Ptpn13 A G 5: 103,688,976 (GRCm39) E923G probably damaging Het
Rp1 A T 1: 4,414,886 (GRCm39) S2075R possibly damaging Het
Sft2d2 A G 1: 165,011,553 (GRCm39) C114R probably damaging Het
Sipa1l2 T G 8: 126,191,154 (GRCm39) R945S probably damaging Het
Slc12a1 A G 2: 125,028,561 (GRCm39) N517S probably damaging Het
Smok4a T C 17: 13,746,643 (GRCm39) noncoding transcript Het
Snx18 A G 13: 113,754,364 (GRCm39) S190P probably damaging Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmc5 T C 7: 118,269,956 (GRCm39) I902T probably benign Het
Ttc27 T G 17: 75,136,544 (GRCm39) S584A probably benign Het
Ttn A T 2: 76,779,359 (GRCm39) Y1174N probably damaging Het
Zbtb44 T G 9: 30,975,544 (GRCm39) S391R probably damaging 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
IGL01786:Slc44a2 APN 9 21,263,782 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GATACTTTTGCTTCTAGGACCTGTC -3'
(R):5'- AAAATCTTGGATCAGTGGCCCG -3'

Sequencing Primer
(F):5'- GTCCTTGGTCTAGCCTCAGC -3'
(R):5'- AGAAGAGGTCCCTGCATCC -3'
Posted On 2015-09-24