Mutagenetix > Incidental Mutation

Incidental Mutation 'R1559:M6pr'

170489

Institutional Source

Beutler Lab

Gene Symbol

M6pr

Ensembl Gene

ENSMUSG00000007458

Gene Name

mannose-6-phosphate receptor, cation dependent

Synonyms

Mpr46, CD-MPR

MMRRC Submission

039598-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122285679-122294639 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122292033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 122 (I122L)

Ref Sequence

ENSEMBL: ENSMUSP00000108229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007602] [ENSMUST00000079560] [ENSMUST00000081849] [ENSMUST00000112600] [ENSMUST00000112610] [ENSMUST00000159252] [ENSMUST00000161054] [ENSMUST00000161739] [ENSMUST00000160696] [ENSMUST00000160163]

AlphaFold

P24668

Predicted Effect

probably benign
Transcript: ENSMUST00000007602
AA Change: I122L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000007602
Gene: ENSMUSG00000007458
AA Change: I122L

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: I122L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108229
Gene: ENSMUSG00000007458
AA Change: I122L

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

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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,180 (GRCm39)	W3585R	probably null	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Babam1	G	C	8: 71,850,424 (GRCm39)	E18Q	probably damaging	Het
Bcan	G	T	3: 87,901,519 (GRCm39)	S394R	probably damaging	Het
Birc6	T	A	17: 74,999,232 (GRCm39)	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,209,832 (GRCm39)	H559Q	probably benign	Het
Cars2	G	T	8: 11,580,430 (GRCm39)		probably null	Het
Ccdc93	T	A	1: 121,389,712 (GRCm39)		probably benign	Het
Ccna2	C	A	3: 36,624,879 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,803,037 (GRCm39)	L326I	probably damaging	Het
Cdh23	A	T	10: 60,255,478 (GRCm39)		probably benign	Het
Cenpe	T	A	3: 134,976,661 (GRCm39)	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,936 (GRCm39)	M295V	probably benign	Het
Cxcl2	A	G	5: 91,051,871 (GRCm39)	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,291,181 (GRCm39)	T370A	probably damaging	Het
Daam2	A	G	17: 49,803,148 (GRCm39)		probably benign	Het
Dclk3	T	C	9: 111,298,276 (GRCm39)	F607L	probably damaging	Het
Des	T	G	1: 75,337,230 (GRCm39)	S57A	probably benign	Het
Drd1	A	T	13: 54,206,964 (GRCm39)	S410T	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fanci	T	C	7: 79,082,941 (GRCm39)	L639P	probably damaging	Het
Fancm	A	G	12: 65,140,463 (GRCm39)	E395G	probably benign	Het
Grik3	A	G	4: 125,601,790 (GRCm39)	D889G	probably benign	Het
Heyl	A	G	4: 123,135,192 (GRCm39)	S62G	probably damaging	Het
Hmox1	C	T	8: 75,826,577 (GRCm39)	P267L	probably damaging	Het
Ifi213	A	C	1: 173,394,784 (GRCm39)	S584A	probably benign	Het
Il12rb2	G	T	6: 67,333,576 (GRCm39)	F234L	probably benign	Het
Il4i1	T	A	7: 44,488,811 (GRCm39)	S233T	probably damaging	Het
Itga4	A	G	2: 79,146,032 (GRCm39)	S745G	probably benign	Het
Kalrn	T	A	16: 33,830,918 (GRCm39)	I734F	possibly damaging	Het
Klk1b16	T	C	7: 43,790,425 (GRCm39)	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,461,117 (GRCm39)	M581K	probably benign	Het
Magi3	T	C	3: 103,954,169 (GRCm39)		probably benign	Het
Mybpc2	T	G	7: 44,163,111 (GRCm39)	T480P	probably benign	Het
Or14c44	T	C	7: 86,061,575 (GRCm39)	S43P	probably benign	Het
Or1j17	A	G	2: 36,578,770 (GRCm39)	Y252C	probably damaging	Het
Or51ab3	A	T	7: 103,201,372 (GRCm39)	I127F	possibly damaging	Het
Or8g23	T	C	9: 38,971,437 (GRCm39)	N175S	probably benign	Het
Pcx	T	A	19: 4,669,114 (GRCm39)	I704N	probably damaging	Het
Pde3a	G	T	6: 141,404,824 (GRCm39)	A350S	probably damaging	Het
Ppox	A	T	1: 171,107,580 (GRCm39)		probably benign	Het
Prb1a	T	A	6: 132,185,507 (GRCm39)	Y42F	unknown	Het
Rsph4a	T	A	10: 33,785,727 (GRCm39)	V546E	probably damaging	Het
Saxo4	T	C	19: 10,458,770 (GRCm39)	T87A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,860,693 (GRCm39)		probably null	Het
Slc22a2	T	C	17: 12,803,298 (GRCm39)	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,026,223 (GRCm39)	D334V	probably damaging	Het
Smim19	T	C	8: 22,953,352 (GRCm39)	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,588 (GRCm39)	T233A	probably damaging	Het
St8sia5	G	A	18: 77,299,460 (GRCm39)		probably null	Het
Stk32a	C	A	18: 43,376,149 (GRCm39)	Q73K	probably benign	Het
Tmem129	G	T	5: 33,815,100 (GRCm39)		probably null	Het
Traf3ip3	A	T	1: 192,860,599 (GRCm39)	L441Q	probably damaging	Het
Ttn	C	T	2: 76,731,305 (GRCm39)		probably benign	Het
Unc45b	T	C	11: 82,808,672 (GRCm39)	S253P	possibly damaging	Het
Vars2	A	G	17: 35,977,150 (GRCm39)		probably benign	Het
Vmn2r51	C	T	7: 9,836,372 (GRCm39)	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 9,836,373 (GRCm39)	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,465,127 (GRCm39)	I379V	possibly damaging	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
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
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'- CTGGCAATCTTGTGGAATCCCCTC -3'
(R):5'- TGCATAAAGCCCAATCATTTGCAGC -3'

Sequencing Primer
(F):5'- tgggaggcaaaggcagg -3'
(R):5'- CAATCATTTGCAGCTCCTGG -3'

Posted On

2014-04-13