Incidental Mutation 'R8294:Slc44a2'
ID 638854
Institutional Source Beutler Lab
Gene Symbol Slc44a2
Ensembl Gene ENSMUSG00000057193
Gene Name solute carrier family 44, member 2
Synonyms CTL2, 1110028E10Rik
MMRRC Submission 067784-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8294 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21232015-21266324 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 21259643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 597 (V597F)
Ref Sequence ENSEMBL: ENSMUSP00000034697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034697]
AlphaFold Q8BY89
Predicted Effect probably damaging
Transcript: ENSMUST00000034697
AA Change: V597F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: V597F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (42/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,897,217 (GRCm39) V632A possibly damaging Het
Abcf2 CAT CATAAT 5: 24,781,589 (GRCm39) probably benign Het
Acat2 T C 17: 13,175,243 (GRCm39) I79V probably benign Het
Arid3a A T 10: 79,786,535 (GRCm39) silent Het
Cecr2 C T 6: 120,710,747 (GRCm39) A154V probably damaging Het
Cog3 A C 14: 75,954,619 (GRCm39) L650R probably damaging Het
Col12a1 A T 9: 79,606,594 (GRCm39) F610I possibly damaging Het
Col24a1 A G 3: 145,186,844 (GRCm39) D1215G probably null Het
Ctsh C G 9: 89,950,489 (GRCm39) A219G possibly damaging Het
Dnah10 C T 5: 124,859,410 (GRCm39) L2126F probably damaging Het
Dock10 A G 1: 80,488,079 (GRCm39) V2028A possibly damaging Het
Ece1 T C 4: 137,675,931 (GRCm39) V435A possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
H4c1 A G 13: 23,944,957 (GRCm39) F62L probably damaging Het
Hk1 T G 10: 62,131,624 (GRCm39) I245L probably benign Het
Hyal6 A C 6: 24,734,378 (GRCm39) K104Q possibly damaging Het
Kalrn T C 16: 33,853,954 (GRCm39) I2017V probably benign Het
Khdc4 C T 3: 88,603,915 (GRCm39) A244V probably damaging Het
Krt72 A T 15: 101,694,472 (GRCm39) L141Q probably damaging Het
Map3k4 C A 17: 12,537,500 (GRCm39) A6S unknown Het
Muc6 T C 7: 141,217,263 (GRCm39) Y2470C possibly damaging Het
Nrip1 A G 16: 76,089,418 (GRCm39) V713A probably damaging Het
Or10q1b A G 19: 13,683,010 (GRCm39) D273G probably benign Het
Or11g26 A G 14: 50,753,083 (GRCm39) T141A possibly damaging Het
Or2ah1 T A 2: 85,653,531 (GRCm39) I72N probably damaging Het
Or6aa1 T C 7: 86,044,487 (GRCm39) Y73C probably damaging Het
Paip1 C T 13: 119,587,300 (GRCm39) T304I possibly damaging Het
Pde4dip A G 3: 97,674,694 (GRCm39) L74P probably damaging Het
Prkch T A 12: 73,806,484 (GRCm39) L577H probably damaging Het
Rp1 A G 1: 4,416,220 (GRCm39) S1631P probably benign Het
Rph3a A G 5: 121,099,429 (GRCm39) F154S probably damaging Het
S1pr5 A G 9: 21,156,300 (GRCm39) V42A possibly damaging Het
Scaper G A 9: 55,517,280 (GRCm39) L1052F possibly damaging Het
Srsf1 T A 11: 87,939,467 (GRCm39) S116T probably benign Het
Ssh2 A G 11: 77,345,027 (GRCm39) D1004G probably benign Het
St3gal5 T A 6: 72,074,816 (GRCm39) D25E Het
Syt17 A T 7: 118,009,228 (GRCm39) Y327N probably damaging Het
T T A 17: 8,653,364 (GRCm39) M1K probably null Het
Tmem201 A T 4: 149,815,554 (GRCm39) I132N possibly damaging Het
Tmprss15 A T 16: 78,868,176 (GRCm39) C211S probably benign Het
Trim36 T C 18: 46,331,588 (GRCm39) D7G probably benign Het
Trip11 T A 12: 101,811,160 (GRCm39) K1863N possibly damaging Het
Vmn2r13 A T 5: 109,322,978 (GRCm39) S104T probably benign Het
Zfp977 T C 7: 42,229,689 (GRCm39) T279A 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
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
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
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'- CAGCCAGGAATGCCTTCTTC -3'
(R):5'- GCTGAGTCTTCAAGGAAGGAC -3'

Sequencing Primer
(F):5'- TATCATCAGGTTAGCAGGACAC -3'
(R):5'- CTGAGTCTTCAAGGAAGGACTTCAC -3'
Posted On 2020-07-28