Incidental Mutation 'ANU05:M6pr'
ID 262486
Institutional Source Beutler Lab
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 # ANU05
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 122285679-122294639 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122289218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 9 (R9G)
Ref Sequence ENSEMBL: ENSMUSP00000108229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007602] [ENSMUST00000112610]
AlphaFold P24668
Predicted Effect probably benign
Transcript: ENSMUST00000007602
AA Change: R9G

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000007602
Gene: ENSMUSG00000007458
AA Change: R9G

DomainStartEndE-ValueType
Pfam:Man-6-P_recep 1 278 4.5e-184 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112610
AA Change: R9G

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000108229
Gene: ENSMUSG00000007458
AA Change: R9G

DomainStartEndE-ValueType
Pfam:Man-6-P_recep 1 278 3.9e-200 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123093
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I 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
IGL02200:M6pr APN 6 122,292,027 (GRCm39) missense probably benign 0.25
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
Predicted Primers PCR Primer
(F):5'- TTCCAGGGAAGGCCACTGACT -3'
(R):5'- CACATTAGAGCCTGTACCGCACC -3'

Sequencing Primer
(F):5'- agattaaaggcatttggctctac -3'
(R):5'- gctgggatttgaactcaggac -3'
Posted On 2015-02-04