Incidental Mutation 'R4861:Slc41a2'
ID 374302
Institutional Source Beutler Lab
Gene Symbol Slc41a2
Ensembl Gene ENSMUSG00000034591
Gene Name solute carrier family 41, member 2
Synonyms A230035L05Rik
MMRRC Submission 042472-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4861 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 83066712-83173746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83152322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 51 (Q51R)
Ref Sequence ENSEMBL: ENSMUSP00000116482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039956] [ENSMUST00000126617] [ENSMUST00000154730] [ENSMUST00000154926]
AlphaFold Q8BYR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000039956
AA Change: Q51R

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: Q51R

DomainStartEndE-ValueType
transmembrane domain 159 181 N/A INTRINSIC
Pfam:MgtE 200 334 8.7e-24 PFAM
transmembrane domain 346 368 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
Pfam:MgtE 414 557 2.9e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126617
AA Change: Q51R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000154730
Predicted Effect probably damaging
Transcript: ENSMUST00000154926
AA Change: Q51R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.0900 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 87.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,076,249 (GRCm39) R1153H probably damaging Het
Ahcy T C 2: 154,902,436 (GRCm39) E411G probably benign Het
Alpi T A 1: 87,028,191 (GRCm39) I211F probably damaging Het
Arfgef3 G A 10: 18,483,479 (GRCm39) A1415V probably benign Het
Bora T C 14: 99,284,910 (GRCm39) probably null Het
Car3 T C 3: 14,931,956 (GRCm39) V109A probably damaging Het
Cdk13 A T 13: 17,941,171 (GRCm39) V17D probably damaging Het
Cept1 A C 3: 106,413,048 (GRCm39) S226A probably damaging Het
Dbt A T 3: 116,341,727 (GRCm39) I443L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Farp2 T C 1: 93,533,141 (GRCm39) L633S probably damaging Het
Gm26727 T C 2: 67,263,289 (GRCm39) I79M probably damaging Het
Gm5800 T A 14: 51,953,504 (GRCm39) N37I probably damaging Het
Hapln1 G A 13: 89,749,571 (GRCm39) G39S possibly damaging Het
Ice2 T A 9: 69,322,730 (GRCm39) S408R probably benign Het
Lctl T C 9: 64,027,045 (GRCm39) I131T possibly damaging Het
Ncoa7 T A 10: 30,580,608 (GRCm39) M117L probably benign Het
Npy4r C T 14: 33,868,840 (GRCm39) W149* probably null Het
Nr5a2 A G 1: 136,876,458 (GRCm39) probably null Het
Odad1 A G 7: 45,592,297 (GRCm39) E359G probably damaging Het
Plg G A 17: 12,614,622 (GRCm39) E301K probably benign Het
Pnkp C T 7: 44,511,827 (GRCm39) S113L probably damaging Het
Rapgef2 T C 3: 78,981,743 (GRCm39) K1084R probably benign Het
Slc47a2 A T 11: 61,227,059 (GRCm39) C170S probably benign Het
Slco1b2 A T 6: 141,616,948 (GRCm39) N427I possibly damaging Het
Smc2 G A 4: 52,461,090 (GRCm39) R571H probably benign Het
Sp4 G T 12: 118,264,546 (GRCm39) probably null Het
Tas2r117 T C 6: 132,780,092 (GRCm39) F77L probably benign Het
Tbcd C T 11: 121,492,787 (GRCm39) R875C probably damaging Het
Thumpd2 A G 17: 81,334,230 (GRCm39) S453P probably benign Het
Vars2 G T 17: 35,972,825 (GRCm39) Q13K probably benign Het
Other mutations in Slc41a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Slc41a2 APN 10 83,149,394 (GRCm39) unclassified probably benign
IGL02263:Slc41a2 APN 10 83,149,364 (GRCm39) missense possibly damaging 0.82
IGL02338:Slc41a2 APN 10 83,152,455 (GRCm39) missense possibly damaging 0.68
IGL02680:Slc41a2 APN 10 83,119,728 (GRCm39) missense probably benign 0.20
IGL02703:Slc41a2 APN 10 83,090,711 (GRCm39) missense probably damaging 1.00
IGL03039:Slc41a2 APN 10 83,119,722 (GRCm39) missense probably benign 0.37
PIT4508001:Slc41a2 UTSW 10 83,090,744 (GRCm39) missense probably damaging 0.99
R0326:Slc41a2 UTSW 10 83,119,610 (GRCm39) missense probably damaging 1.00
R0470:Slc41a2 UTSW 10 83,152,086 (GRCm39) missense possibly damaging 0.94
R0610:Slc41a2 UTSW 10 83,119,592 (GRCm39) missense possibly damaging 0.75
R1708:Slc41a2 UTSW 10 83,069,596 (GRCm39) missense probably damaging 1.00
R1765:Slc41a2 UTSW 10 83,137,130 (GRCm39) missense probably damaging 1.00
R1870:Slc41a2 UTSW 10 83,137,029 (GRCm39) nonsense probably null
R1875:Slc41a2 UTSW 10 83,091,949 (GRCm39) missense probably damaging 1.00
R2008:Slc41a2 UTSW 10 83,140,167 (GRCm39) critical splice donor site probably null
R2172:Slc41a2 UTSW 10 83,119,638 (GRCm39) missense probably benign 0.00
R4193:Slc41a2 UTSW 10 83,137,085 (GRCm39) missense probably damaging 0.97
R4789:Slc41a2 UTSW 10 83,152,320 (GRCm39) missense probably damaging 1.00
R4861:Slc41a2 UTSW 10 83,152,322 (GRCm39) missense probably damaging 0.99
R4913:Slc41a2 UTSW 10 83,149,284 (GRCm39) missense probably damaging 1.00
R5012:Slc41a2 UTSW 10 83,137,127 (GRCm39) missense probably benign 0.02
R5140:Slc41a2 UTSW 10 83,133,155 (GRCm39) missense probably damaging 0.98
R5189:Slc41a2 UTSW 10 83,149,275 (GRCm39) splice site probably null
R5410:Slc41a2 UTSW 10 83,117,232 (GRCm39) critical splice donor site probably null
R5748:Slc41a2 UTSW 10 83,133,023 (GRCm39) missense probably benign 0.00
R5808:Slc41a2 UTSW 10 83,149,362 (GRCm39) missense probably benign 0.29
R6124:Slc41a2 UTSW 10 83,133,116 (GRCm39) missense probably damaging 1.00
R6292:Slc41a2 UTSW 10 83,090,790 (GRCm39) missense probably damaging 0.99
R6511:Slc41a2 UTSW 10 83,119,652 (GRCm39) missense probably damaging 0.99
R6793:Slc41a2 UTSW 10 83,137,022 (GRCm39) splice site probably null
R6970:Slc41a2 UTSW 10 83,151,960 (GRCm39) missense possibly damaging 0.53
R7584:Slc41a2 UTSW 10 83,152,653 (GRCm39) splice site probably benign
R7752:Slc41a2 UTSW 10 83,091,905 (GRCm39) missense possibly damaging 0.73
R8289:Slc41a2 UTSW 10 83,137,044 (GRCm39) missense probably benign 0.06
R8700:Slc41a2 UTSW 10 83,152,097 (GRCm39) missense probably damaging 1.00
R9607:Slc41a2 UTSW 10 83,119,631 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCCCGTCACAGTAGTTATAGC -3'
(R):5'- TGGGTCTGAAGGATACAGGTC -3'

Sequencing Primer
(F):5'- AGCCAGCATAGTCATCGTACTTGG -3'
(R):5'- AAGGATACAGGTCTTTTTGTGATGAC -3'
Posted On 2016-03-01