Incidental Mutation 'R7233:Slc44a2'
ID 562642
Institutional Source Beutler Lab
Gene Symbol Slc44a2
Ensembl Gene ENSMUSG00000057193
Gene Name solute carrier family 44, member 2
Synonyms CTL2, 1110028E10Rik
MMRRC Submission 045343-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7233 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21232015-21266324 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 21259445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]
AlphaFold Q8BY89
Predicted Effect probably null
Transcript: ENSMUST00000034697
SMART Domains Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193

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 probably benign
Transcript: ENSMUST00000213535
Predicted Effect probably null
Transcript: ENSMUST00000214268
Predicted Effect probably benign
Transcript: ENSMUST00000215574
Predicted Effect probably null
Transcript: ENSMUST00000217461
Meta Mutation Damage Score 0.9495 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,762,641 (GRCm39) K505R probably benign Het
Arhgap24 A G 5: 103,026,367 (GRCm39) K263E probably benign Het
Ark2n C A 18: 77,722,882 (GRCm39) V385F probably damaging Het
Armc2 A T 10: 41,799,800 (GRCm39) V686D probably damaging Het
Bhmt T A 13: 93,758,025 (GRCm39) K229* probably null Het
Birc2 A T 9: 7,827,009 (GRCm39) C326S probably damaging Het
Blzf1 A T 1: 164,123,512 (GRCm39) probably null Het
Camsap3 T A 8: 3,650,371 (GRCm39) F223Y probably damaging Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ces2h T A 8: 105,744,088 (GRCm39) C279S probably damaging Het
Cfap44 T A 16: 44,242,771 (GRCm39) L725Q probably damaging Het
Cibar2 A G 8: 120,898,661 (GRCm39) L131P probably damaging Het
Clip1 T C 5: 123,749,922 (GRCm39) E987G probably damaging Het
Cog1 G T 11: 113,540,556 (GRCm39) R57L probably damaging Het
Ctdspl T C 9: 118,849,114 (GRCm39) probably null Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dnttip2 T C 3: 122,070,039 (GRCm39) V418A probably benign Het
Dop1a G A 9: 86,403,749 (GRCm39) A186T probably benign Het
Efcab3 T C 11: 104,730,669 (GRCm39) S1966P possibly damaging Het
Engase T A 11: 118,373,827 (GRCm39) V323E probably damaging Het
Farsb A G 1: 78,447,718 (GRCm39) probably null Het
Fpr2 G T 17: 18,113,766 (GRCm39) W254L probably damaging Het
Frmd3 A C 4: 73,932,023 (GRCm39) H6P probably benign Het
Fscn1 C T 5: 142,956,029 (GRCm39) S366L possibly damaging Het
Galt T A 4: 41,758,267 (GRCm39) I344N probably benign Het
Gfra4 A T 2: 130,883,037 (GRCm39) V194E probably damaging Het
Golgb1 T C 16: 36,735,120 (GRCm39) S1497P possibly damaging Het
Igfn1 A C 1: 135,897,873 (GRCm39) S898A probably benign Het
Igkv1-135 T C 6: 67,587,332 (GRCm39) S68P probably benign Het
Lama2 A T 10: 27,107,659 (GRCm39) C784S probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lats2 A T 14: 57,960,151 (GRCm39) probably null Het
Lgr6 A C 1: 134,928,214 (GRCm39) probably null Het
Lrp1 A T 10: 127,430,930 (GRCm39) I373N probably damaging Het
Maml2 A T 9: 13,532,067 (GRCm39) H427L Het
Mansc1 A G 6: 134,598,806 (GRCm39) V37A probably damaging Het
Map4k3 A G 17: 80,905,077 (GRCm39) V738A possibly damaging Het
Mastl A G 2: 23,023,670 (GRCm39) I351T probably benign Het
Mcmdc2 T G 1: 10,002,408 (GRCm39) probably null Het
Mrgprd A G 7: 144,875,672 (GRCm39) D181G possibly damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Msra T C 14: 64,360,714 (GRCm39) Y209C probably damaging Het
Musk A G 4: 58,373,307 (GRCm39) E759G possibly damaging Het
Nab1 T C 1: 52,498,378 (GRCm39) *487W probably null Het
Or2z9 A G 8: 72,853,900 (GRCm39) T99A probably benign Het
Or5p66 T A 7: 107,885,923 (GRCm39) T137S probably benign Het
Pkdrej A G 15: 85,705,349 (GRCm39) S196P probably damaging Het
Pln A G 10: 53,220,008 (GRCm39) T17A probably damaging Het
Polrmt A T 10: 79,581,619 (GRCm39) probably null Het
Ppp1r14a T A 7: 28,988,949 (GRCm39) Y64N probably damaging Het
Ppp1r9a A T 6: 5,134,804 (GRCm39) H959L probably benign Het
Pramel42 A T 5: 94,685,524 (GRCm39) M395L probably benign Het
Prmt7 A G 8: 106,946,642 (GRCm39) T75A probably damaging Het
Prom1 T C 5: 44,194,816 (GRCm39) S319G possibly damaging Het
Prtg G A 9: 72,819,273 (GRCm39) G1089S probably benign Het
Ptprd T C 4: 75,978,020 (GRCm39) D596G probably benign Het
Rbm12 C T 2: 155,937,894 (GRCm39) G793S unknown Het
Rora A T 9: 69,104,804 (GRCm39) R43* probably null Het
Sez6 T C 11: 77,863,963 (GRCm39) Y482H probably damaging Het
Skint2 A T 4: 112,483,122 (GRCm39) N176Y probably damaging Het
Sox6 A G 7: 115,089,044 (GRCm39) V606A possibly damaging Het
Spa17 T C 9: 37,514,587 (GRCm39) probably null Het
Syne1 A C 10: 5,252,160 (GRCm39) L2498R probably damaging Het
Synpo2 T G 3: 122,911,333 (GRCm39) H104P probably benign Het
Tapbp G T 17: 34,138,943 (GRCm39) A46S probably damaging Het
Tbc1d30 C A 10: 121,107,962 (GRCm39) R480L probably benign Het
Tshz1 T C 18: 84,032,944 (GRCm39) D488G possibly damaging Het
Ulk1 A G 5: 110,956,908 (GRCm39) L70P probably damaging Het
Zcchc17 T A 4: 130,221,116 (GRCm39) D145V probably damaging Het
Zfp318 T A 17: 46,716,978 (GRCm39) L1037M probably damaging Het
Zfp324 C T 7: 12,704,524 (GRCm39) Q238* probably null Het
Zfp874a A G 13: 67,590,776 (GRCm39) Y303H possibly damaging Het
Zfp975 T C 7: 42,311,918 (GRCm39) K232E probably benign Het
Zfp982 T A 4: 147,597,718 (GRCm39) N358K probably benign Het
Zmiz1 C T 14: 25,650,092 (GRCm39) P417S possibly 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
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
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'- ATCATGGTGAACAGCAGGGC -3'
(R):5'- CAGAAGTTTGCCCAACAGGAAG -3'

Sequencing Primer
(F):5'- AGCAGGGCTGTATTGCTGC -3'
(R):5'- TAACTTTGTCCAGGACGGC -3'
Posted On 2019-06-26