Incidental Mutation 'IGL00566:M6pr'
| ID |
332632 |
| 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)
|
| Stock # |
IGL00566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
122285679-122294639 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122290337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 100
(K100M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007602]
[ENSMUST00000079560]
[ENSMUST00000081849]
[ENSMUST00000112600]
[ENSMUST00000112610]
[ENSMUST00000159252]
[ENSMUST00000160696]
[ENSMUST00000161054]
[ENSMUST00000160163]
[ENSMUST00000161739]
|
| AlphaFold |
P24668 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007602
AA Change: K100M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000007602
Gene: ENSMUSG00000007458
AA Change: K100M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Man-6-P_recep
|
1 |
278 |
4.5e-184 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079560
|
| SMART Domains |
Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 damaging
Transcript: ENSMUST00000112610
AA Change: K100M
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108229
Gene: ENSMUSG00000007458
AA Change: K100M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Man-6-P_recep
|
1 |
278 |
3.9e-200 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159252
|
| SMART Domains |
Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160696
|
| SMART Domains |
Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000161054
|
| SMART Domains |
Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000160163
|
| SMART Domains |
Protein: ENSMUSP00000125545
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161877
|
| SMART Domains |
Protein: ENSMUSP00000123854
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161739
|
| SMART Domains |
Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
| Acaa2 |
G |
A |
18: 74,926,449 (GRCm39) |
G135E |
probably damaging |
Het |
| Actr2 |
C |
A |
11: 20,022,487 (GRCm39) |
R328L |
possibly damaging |
Het |
| Adam1b |
T |
C |
5: 121,639,056 (GRCm39) |
D663G |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,174 (GRCm39) |
V179D |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
| Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,581,670 (GRCm39) |
L333Q |
probably damaging |
Het |
| Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,798,657 (GRCm39) |
|
probably benign |
Het |
| Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
| Other mutations in M6pr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation