Incidental Mutation 'R4496:Mal2'
ID 330991
Institutional Source Beutler Lab
Gene Symbol Mal2
Ensembl Gene ENSMUSG00000024479
Gene Name mal, T cell differentiation protein 2
Synonyms
MMRRC Submission 041749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4496 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 54434762-54466242 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54461835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 110 (V110A)
Ref Sequence ENSEMBL: ENSMUSP00000025356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025356]
AlphaFold Q8BI08
Predicted Effect probably damaging
Transcript: ENSMUST00000025356
AA Change: V110A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025356
Gene: ENSMUSG00000024479
AA Change: V110A

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
Pfam:MARVEL 30 168 4.4e-20 PFAM
Meta Mutation Damage Score 0.1156 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,602,947 (GRCm39) L514H possibly damaging Het
Abca7 T C 10: 79,838,768 (GRCm39) F647S probably damaging Het
Ahi1 A G 10: 20,841,444 (GRCm39) K244E probably benign Het
Ankhd1 G A 18: 36,693,839 (GRCm39) D17N probably damaging Het
Arvcf G T 16: 18,223,932 (GRCm39) K890N probably damaging Het
Atosa T A 9: 74,938,813 (GRCm39) S1038T probably damaging Het
Atp11c T C X: 59,326,104 (GRCm39) D478G probably damaging Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Clca3a2 C T 3: 144,797,926 (GRCm39) D180N possibly damaging Het
Comt T C 16: 18,230,437 (GRCm39) probably null Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Cyp2d11 C T 15: 82,276,149 (GRCm39) probably benign Het
Fam169b G T 7: 68,007,954 (GRCm39) C289F possibly damaging Het
Fastkd5 T C 2: 130,458,501 (GRCm39) T30A probably benign Het
Fchsd2 A C 7: 100,931,702 (GRCm39) T753P probably benign Het
Gatd3a T C 10: 77,999,377 (GRCm39) I145V probably damaging Het
Glis3 G A 19: 28,643,527 (GRCm39) S5L possibly damaging Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Gpt A T 15: 76,582,663 (GRCm39) Q276L probably damaging Het
Gtf3c3 G T 1: 54,463,291 (GRCm39) S302R probably benign Het
Hnrnpc A G 14: 52,312,888 (GRCm39) S229P probably benign Het
Ikzf5 T C 7: 130,998,393 (GRCm39) probably null Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo3b A G 2: 70,084,748 (GRCm39) D702G probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nat10 T A 2: 103,588,084 (GRCm39) I14F probably damaging Het
Nat14 C T 7: 4,926,918 (GRCm39) T30M probably damaging Het
Ndst4 C A 3: 125,476,922 (GRCm39) A49D probably damaging Het
Nnt A T 13: 119,518,301 (GRCm39) M292K probably damaging Het
Obox7 C T 7: 14,399,299 (GRCm39) T175I probably benign Het
Or2t26 T A 11: 49,039,214 (GRCm39) N43K possibly damaging Het
Or6c5c T G 10: 129,299,430 (GRCm39) V295G possibly damaging Het
Plekhm3 T C 1: 64,900,395 (GRCm39) E634G probably damaging Het
Plxdc2 T A 2: 16,517,040 (GRCm39) I107K probably damaging Het
Psmb10 T A 8: 106,662,660 (GRCm39) R226S probably damaging Het
Ptprr T A 10: 116,065,407 (GRCm39) V160E possibly damaging Het
Sema5a T A 15: 32,641,133 (GRCm39) L649H probably damaging Het
Sephs1 T A 2: 4,911,494 (GRCm39) I356K probably benign Het
Serpinb3d C T 1: 107,007,022 (GRCm39) V229M probably damaging Het
Slc7a4 T C 16: 17,393,676 (GRCm39) D41G probably damaging Het
Sort1 T C 3: 108,217,461 (GRCm39) V121A probably benign Het
Tcf20 C A 15: 82,739,185 (GRCm39) Q755H probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttll13 A T 7: 79,906,667 (GRCm39) Y445F probably benign Het
Usp40 T C 1: 87,923,459 (GRCm39) I271V possibly damaging Het
Vmn1r72 A G 7: 11,403,791 (GRCm39) I219T probably damaging Het
Other mutations in Mal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Mal2 APN 15 54,451,728 (GRCm39) missense probably damaging 1.00
IGL01960:Mal2 APN 15 54,461,941 (GRCm39) nonsense probably null
IGL02647:Mal2 APN 15 54,451,833 (GRCm39) missense probably damaging 0.96
R1772:Mal2 UTSW 15 54,451,783 (GRCm39) missense probably damaging 0.99
R2015:Mal2 UTSW 15 54,464,136 (GRCm39) makesense probably null
R2248:Mal2 UTSW 15 54,451,732 (GRCm39) missense probably damaging 1.00
R6190:Mal2 UTSW 15 54,434,794 (GRCm39) start gained probably benign
R6275:Mal2 UTSW 15 54,435,035 (GRCm39) critical splice donor site probably null
R6862:Mal2 UTSW 15 54,451,753 (GRCm39) missense probably damaging 1.00
R8560:Mal2 UTSW 15 54,461,826 (GRCm39) missense probably benign
R9037:Mal2 UTSW 15 54,434,939 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATCCCTCTACAGTTAAGGATGGGC -3'
(R):5'- ATGCTGGACCATGAAAGGAC -3'

Sequencing Primer
(F):5'- CCTCTACAGTTAAGGATGGGCTTATG -3'
(R):5'- GACCATGAAAGGACGATGCTTTTCC -3'
Posted On 2015-07-21