Incidental Mutation 'IGL02200:M6pr'
ID 284158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol M6pr
Ensembl Gene ENSMUSG00000007458
Gene Name mannose-6-phosphate receptor, cation dependent
Synonyms Mpr46, CD-MPR
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02200
Quality Score
Status
Chromosome 6
Chromosomal Location 122285679-122294639 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122292027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 120 (M120V)
Ref Sequence ENSEMBL: ENSMUSP00000108229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007602] [ENSMUST00000079560] [ENSMUST00000081849] [ENSMUST00000112600] [ENSMUST00000112610] [ENSMUST00000160163] [ENSMUST00000160696] [ENSMUST00000161054] [ENSMUST00000161739] [ENSMUST00000159252]
AlphaFold P24668
Predicted Effect probably benign
Transcript: ENSMUST00000007602
AA Change: M120V

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000007602
Gene: ENSMUSG00000007458
AA Change: M120V

DomainStartEndE-ValueType
Pfam:Man-6-P_recep 1 278 4.5e-184 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079560
SMART Domains Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 182 196 N/A INTRINSIC
low complexity region 240 303 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
low complexity region 373 416 N/A INTRINSIC
coiled coil region 420 446 N/A INTRINSIC
low complexity region 448 480 N/A INTRINSIC
low complexity region 485 506 N/A INTRINSIC
low complexity region 524 535 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 575 587 N/A INTRINSIC
low complexity region 617 628 N/A INTRINSIC
low complexity region 704 722 N/A INTRINSIC
Pfam:zf-FCS 798 833 4.9e-8 PFAM
low complexity region 855 869 N/A INTRINSIC
SAM 943 1010 9.57e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081849
SMART Domains Protein: ENSMUSP00000080532
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 188 251 N/A INTRINSIC
low complexity region 278 289 N/A INTRINSIC
low complexity region 321 364 N/A INTRINSIC
coiled coil region 368 394 N/A INTRINSIC
low complexity region 396 428 N/A INTRINSIC
low complexity region 433 454 N/A INTRINSIC
low complexity region 472 483 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
low complexity region 652 670 N/A INTRINSIC
Pfam:zf-FCS 746 781 4.6e-8 PFAM
low complexity region 803 817 N/A INTRINSIC
SAM 891 958 9.57e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112600
SMART Domains Protein: ENSMUSP00000108219
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 188 251 N/A INTRINSIC
low complexity region 278 289 N/A INTRINSIC
low complexity region 321 364 N/A INTRINSIC
coiled coil region 368 394 N/A INTRINSIC
low complexity region 396 428 N/A INTRINSIC
low complexity region 433 454 N/A INTRINSIC
low complexity region 472 483 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
low complexity region 652 670 N/A INTRINSIC
Pfam:zf-FCS 746 781 4.6e-8 PFAM
low complexity region 803 817 N/A INTRINSIC
SAM 891 958 9.57e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112610
AA Change: M120V

PolyPhen 2 Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108229
Gene: ENSMUSG00000007458
AA Change: M120V

DomainStartEndE-ValueType
Pfam:Man-6-P_recep 1 278 3.9e-200 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123093
Predicted Effect probably benign
Transcript: ENSMUST00000160163
SMART Domains Protein: ENSMUSP00000125545
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160696
SMART Domains Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 182 196 N/A INTRINSIC
low complexity region 240 303 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
low complexity region 373 416 N/A INTRINSIC
coiled coil region 420 446 N/A INTRINSIC
low complexity region 448 480 N/A INTRINSIC
low complexity region 485 506 N/A INTRINSIC
low complexity region 524 535 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 575 587 N/A INTRINSIC
low complexity region 617 628 N/A INTRINSIC
low complexity region 704 722 N/A INTRINSIC
Pfam:PHC2_SAM_assoc 834 941 3.4e-31 PFAM
SAM 943 1010 9.57e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161877
SMART Domains Protein: ENSMUSP00000123854
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161054
SMART Domains Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 188 251 N/A INTRINSIC
low complexity region 278 289 N/A INTRINSIC
low complexity region 321 364 N/A INTRINSIC
coiled coil region 368 394 N/A INTRINSIC
low complexity region 396 428 N/A INTRINSIC
low complexity region 433 454 N/A INTRINSIC
low complexity region 472 483 N/A INTRINSIC
low complexity region 491 504 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
low complexity region 652 670 N/A INTRINSIC
Pfam:zf-FCS 746 781 4.6e-8 PFAM
low complexity region 803 817 N/A INTRINSIC
SAM 891 958 9.57e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161739
SMART Domains Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
low complexity region 83 102 N/A INTRINSIC
low complexity region 182 196 N/A INTRINSIC
low complexity region 240 303 N/A INTRINSIC
low complexity region 330 341 N/A INTRINSIC
low complexity region 373 416 N/A INTRINSIC
coiled coil region 420 446 N/A INTRINSIC
low complexity region 448 480 N/A INTRINSIC
low complexity region 485 506 N/A INTRINSIC
low complexity region 524 535 N/A INTRINSIC
low complexity region 543 556 N/A INTRINSIC
low complexity region 575 587 N/A INTRINSIC
low complexity region 617 628 N/A INTRINSIC
low complexity region 704 722 N/A INTRINSIC
Pfam:zf-FCS 798 833 4.9e-8 PFAM
low complexity region 855 869 N/A INTRINSIC
SAM 943 1010 9.57e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159252
SMART Domains Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
low complexity region 46 65 N/A INTRINSIC
low complexity region 137 151 N/A INTRINSIC
low complexity region 195 258 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
low complexity region 328 371 N/A INTRINSIC
coiled coil region 375 401 N/A INTRINSIC
low complexity region 403 435 N/A INTRINSIC
low complexity region 440 461 N/A INTRINSIC
low complexity region 479 490 N/A INTRINSIC
low complexity region 498 511 N/A INTRINSIC
low complexity region 530 542 N/A INTRINSIC
low complexity region 572 583 N/A INTRINSIC
low complexity region 659 677 N/A INTRINSIC
Pfam:zf-FCS 753 788 2.2e-8 PFAM
low complexity region 810 824 N/A INTRINSIC
SAM 898 965 9.57e-15 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene are fertile and display no visible phenotypic abnormalities; however, serum levels of lysosomal enzymes are elevated. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,862,663 (GRCm39) E207G probably benign Het
Ahi1 T C 10: 20,857,213 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,536,302 (GRCm39) V97E probably damaging Het
Cadps2 T C 6: 23,385,527 (GRCm39) Y736C probably damaging Het
Cdon T C 9: 35,394,405 (GRCm39) W884R probably benign Het
Cflar A G 1: 58,791,828 (GRCm39) D380G probably damaging Het
Clca3a1 A T 3: 144,457,690 (GRCm39) probably benign Het
Clca3b A G 3: 144,547,190 (GRCm39) S316P probably damaging Het
Crispld1 T C 1: 17,820,557 (GRCm39) probably benign Het
Diaph1 G A 18: 38,023,735 (GRCm39) P701L unknown Het
Dip2b T C 15: 100,049,083 (GRCm39) L159P possibly damaging Het
Dock1 A G 7: 134,346,000 (GRCm39) T181A probably benign Het
Ear1 C T 14: 44,056,709 (GRCm39) R53H probably benign Het
Gm2663 A G 6: 40,972,947 (GRCm39) V220A probably benign Het
Gpi-ps A G 8: 5,689,968 (GRCm39) noncoding transcript Het
Grik1 A G 16: 87,737,453 (GRCm39) F614L probably damaging Het
Htr2a T A 14: 74,943,605 (GRCm39) I395N probably damaging Het
Itsn2 A G 12: 4,686,632 (GRCm39) D528G probably damaging Het
Kdr T C 5: 76,110,762 (GRCm39) probably benign Het
Mettl13 G A 1: 162,366,392 (GRCm39) probably benign Het
Mtfmt A G 9: 65,356,063 (GRCm39) probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Ogfrl1 C T 1: 23,409,150 (GRCm39) V359I probably benign Het
Or51f1d C T 7: 102,701,000 (GRCm39) T165I probably benign Het
Ovch2 T C 7: 107,394,030 (GRCm39) Y141C probably damaging Het
Pwwp2a A C 11: 43,596,955 (GRCm39) I432L possibly damaging Het
Ryr3 C T 2: 112,679,855 (GRCm39) V1245M probably damaging Het
Sis T C 3: 72,850,937 (GRCm39) H587R probably damaging Het
Snrnp40 A G 4: 130,254,014 (GRCm39) K6E probably damaging Het
Snx13 A T 12: 35,136,884 (GRCm39) D115V probably damaging Het
Sohlh2 C A 3: 55,097,977 (GRCm39) T143K probably damaging Het
Spag4 T C 2: 155,908,517 (GRCm39) L55S probably benign Het
Trgc2 T C 13: 19,491,521 (GRCm39) probably benign Het
Vmn2r77 T C 7: 86,451,187 (GRCm39) S358P probably benign Het
Other mutations in M6pr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:M6pr APN 6 122,290,337 (GRCm39) missense probably damaging 0.99
IGL00899:M6pr APN 6 122,292,354 (GRCm39) missense possibly damaging 0.60
IGL01291:M6pr APN 6 122,289,218 (GRCm39) missense probably benign 0.08
IGL02010:M6pr APN 6 122,292,085 (GRCm39) missense possibly damaging 0.70
ANU05:M6pr UTSW 6 122,289,218 (GRCm39) missense probably benign 0.08
R1559:M6pr UTSW 6 122,292,033 (GRCm39) missense probably benign 0.06
R2015:M6pr UTSW 6 122,290,332 (GRCm39) missense probably damaging 0.99
R2144:M6pr UTSW 6 122,292,326 (GRCm39) missense probably benign 0.04
R4402:M6pr UTSW 6 122,291,982 (GRCm39) unclassified probably benign
R4466:M6pr UTSW 6 122,290,228 (GRCm39) missense probably benign 0.23
R5270:M6pr UTSW 6 122,292,048 (GRCm39) missense possibly damaging 0.90
R6306:M6pr UTSW 6 122,292,121 (GRCm39) splice site probably null
R6393:M6pr UTSW 6 122,292,339 (GRCm39) missense possibly damaging 0.56
R6583:M6pr UTSW 6 122,290,349 (GRCm39) missense probably damaging 0.96
R8504:M6pr UTSW 6 122,293,029 (GRCm39) missense possibly damaging 0.92
R8519:M6pr UTSW 6 122,292,025 (GRCm39) missense probably damaging 0.98
RF016:M6pr UTSW 6 122,292,124 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16