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)
|
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
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 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
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: 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 |
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 |
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: 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: 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 |
|
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |