Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:Gmppb'

45288

Institutional Source

Beutler Lab

Gene Symbol

Gmppb

Ensembl Gene

ENSMUSG00000070284

Gene Name

GDP-mannose pyrophosphorylase B

Synonyms

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107926490-107929119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107926996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 56 (M56L)

Ref Sequence

ENSEMBL: ENSMUSP00000107914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000047746] [ENSMUST00000047947] [ENSMUST00000085060] [ENSMUST00000112295] [ENSMUST00000160649] [ENSMUST00000164395] [ENSMUST00000160249] [ENSMUST00000176566] [ENSMUST00000162355] [ENSMUST00000178267] [ENSMUST00000177158]

AlphaFold

Q8BTZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000035214

SMART Domains

Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	114	129	N/A	INTRINSIC
Pfam:IPK	207	426	2.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047746

SMART Domains

Protein: ENSMUSP00000040803
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047947
AA Change: M56L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
AA Change: M56L

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	2	234	8e-48	PFAM
Pfam:NTP_transf_3	3	202	6.6e-12	PFAM
Pfam:Hexapep	259	294	1.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085060

SMART Domains

Protein: ENSMUSP00000082137
Gene: ENSMUSG00000032593

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	33	65	2.55e-2	SMART
LRR	65	83	6.97e1	SMART
LRR_TYP	84	107	1.56e-2	SMART
LRR	109	131	2.84e1	SMART
LRR	132	155	7.05e-1	SMART
LRR	156	176	3.98e1	SMART
LRR	182	206	5.56e0	SMART
Blast:LRRCT	219	274	8e-23	BLAST
IG	285	372	1.59e-6	SMART
transmembrane domain	383	405	N/A	INTRINSIC
low complexity region	407	422	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112295
AA Change: M56L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
AA Change: M56L

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	2	235	2.1e-51	PFAM
Pfam:NTP_transf_3	3	199	1.1e-11	PFAM
Pfam:Hexapep	259	294	9.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159526

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167159

Predicted Effect

probably benign
Transcript: ENSMUST00000160649

SMART Domains

Protein: ENSMUSP00000125495
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164395

Predicted Effect

probably benign
Transcript: ENSMUST00000160249

SMART Domains

Protein: ENSMUSP00000124548
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176566

Predicted Effect

probably benign
Transcript: ENSMUST00000176613

Predicted Effect

probably benign
Transcript: ENSMUST00000162355

SMART Domains

Protein: ENSMUSP00000125745
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1047	1067	N/A	INTRINSIC
low complexity region	1242	1251	N/A	INTRINSIC
RING	1260	1297	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159306

SMART Domains

Protein: ENSMUSP00000125695
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
coiled coil region	172	192	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177396

Predicted Effect

probably benign
Transcript: ENSMUST00000178267

SMART Domains

Protein: ENSMUSP00000136953
Gene: ENSMUSG00000041528

Domain	Start	End	E-Value	Type
low complexity region	104	115	N/A	INTRINSIC
SPRY	132	253	1.52e-28	SMART
low complexity region	471	488	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
coiled coil region	1041	1061	N/A	INTRINSIC
low complexity region	1236	1245	N/A	INTRINSIC
RING	1254	1291	5.27e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177158

SMART Domains

Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
Pfam:IPK	108	206	1.5e-26	PFAM

Meta Mutation Damage Score

0.1262

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,596,128 (GRCm39)	M120L	unknown	Het
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Adamts13	T	A	2: 26,881,346 (GRCm39)	C774*	probably null	Het
Amh	A	G	10: 80,642,010 (GRCm39)		probably benign	Het
Armh4	T	C	14: 49,920,143 (GRCm39)	I729V	probably damaging	Het
Cd40	G	A	2: 164,912,661 (GRCm39)	R204Q	probably benign	Het
Cfap210	C	A	2: 69,619,785 (GRCm39)	R8L	probably damaging	Het
Clhc1	A	C	11: 29,511,366 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	A	T	3: 93,110,891 (GRCm39)	H973L	unknown	Het
Fut2	T	A	7: 45,300,698 (GRCm39)	I25F	probably damaging	Het
Galnt7	T	C	8: 58,005,464 (GRCm39)		probably benign	Het
Grm3	C	A	5: 9,620,048 (GRCm39)	A399S	probably benign	Het
H2-T5	G	T	17: 36,478,949 (GRCm39)	P100Q	probably damaging	Het
Hey2	G	A	10: 30,716,485 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,186 (GRCm39)		probably benign	Het
Kcnh5	C	A	12: 75,184,447 (GRCm39)	C92F	probably benign	Het
Kdm1a	T	C	4: 136,282,609 (GRCm39)	D229G	probably damaging	Het
Klf11	C	G	12: 24,705,089 (GRCm39)	P164R	probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,409,147 (GRCm39)	V6A	probably benign	Het
Ltbr	A	C	6: 125,290,351 (GRCm39)		probably null	Het
Mmp17	T	G	5: 129,675,734 (GRCm39)	S298A	probably benign	Het
Nacc2	T	A	2: 25,979,602 (GRCm39)	E278V	possibly damaging	Het
Or5k8	A	T	16: 58,644,518 (GRCm39)	Y185N	probably damaging	Het
Or8b12b	T	A	9: 37,684,627 (GRCm39)	I224N	probably benign	Het
Otop2	C	T	11: 115,220,288 (GRCm39)	A376V	probably damaging	Het
Pdia2	T	C	17: 26,415,217 (GRCm39)	E504G	probably damaging	Het
Pdzph1	C	T	17: 59,229,722 (GRCm39)	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,820,374 (GRCm39)	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,546,488 (GRCm39)	F269L	probably benign	Het
Rb1	A	T	14: 73,449,152 (GRCm39)	C659*	probably null	Het
Rnf8	T	C	17: 29,840,613 (GRCm39)		probably null	Het
Rras	T	G	7: 44,669,980 (GRCm39)	I137M	probably benign	Het
Slc38a9	A	T	13: 112,850,732 (GRCm39)	H372L	probably damaging	Het
Spata9	T	C	13: 76,125,898 (GRCm39)		probably null	Het
Tas2r115	T	C	6: 132,714,922 (GRCm39)	T10A	probably benign	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Unc80	A	T	1: 66,545,828 (GRCm39)	I460F	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,327,993 (GRCm39)	A293V	possibly damaging	Het
Zpld2	T	C	4: 133,929,829 (GRCm39)	T159A	possibly damaging	Het

Other mutations in Gmppb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Gmppb	APN	9	107,928,446 (GRCm39)	splice site	probably null
IGL02685:Gmppb	APN	9	107,927,118 (GRCm39)	unclassified	probably benign
R0308:Gmppb	UTSW	9	107,927,033 (GRCm39)	missense	probably benign	0.28
R3804:Gmppb	UTSW	9	107,927,773 (GRCm39)	missense	probably damaging	1.00
R3973:Gmppb	UTSW	9	107,927,338 (GRCm39)	missense	probably benign	0.01
R4801:Gmppb	UTSW	9	107,927,416 (GRCm39)	missense	probably benign	0.02
R4802:Gmppb	UTSW	9	107,927,416 (GRCm39)	missense	probably benign	0.02
R5424:Gmppb	UTSW	9	107,929,204 (GRCm39)	splice site	probably null
R7809:Gmppb	UTSW	9	107,928,654 (GRCm39)	makesense	probably null
R7895:Gmppb	UTSW	9	107,927,770 (GRCm39)	missense	probably benign	0.00
R9668:Gmppb	UTSW	9	107,928,362 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCAATAAGCCCATCTTGCTGCATC -3'
(R):5'- TTGCTGGCCCTAAAGTTTGCCC -3'

Sequencing Primer
(F):5'- CATCTTGCTGCATCAAGTGGAG -3'
(R):5'- TTATACTGACCTGTCCCCAAAGG -3'

Posted On

2013-06-11