Mutagenetix > Incidental Mutation

Incidental Mutation 'R9668:Gmppb'

727934

Institutional Source

Beutler Lab

Gene Symbol

Gmppb

Ensembl Gene

ENSMUSG00000070284

Gene Name

GDP-mannose pyrophosphorylase B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R9668 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107926490-107929119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107928362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 291 (V291G)

Ref Sequence

ENSEMBL: ENSMUSP00000036898 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000047947
AA Change: V291G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284
AA Change: V291G

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 damaging
Transcript: ENSMUST00000112295
AA Change: V291G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284
AA Change: V291G

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

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

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: 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: 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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	G	T	11: 116,089,137 (GRCm39)	Y60*	probably null	Het
Acp7	T	A	7: 28,314,562 (GRCm39)		probably null	Het
Adamts17	G	A	7: 66,797,438 (GRCm39)	V1052I	possibly damaging	Het
Ankrd13b	T	A	11: 77,368,594 (GRCm39)	E42V	possibly damaging	Het
Ano1	C	A	7: 144,164,579 (GRCm39)		probably null	Het
Atp5pb	C	T	3: 105,863,356 (GRCm39)	V27I	probably benign	Het
C2cd2	A	G	16: 97,671,418 (GRCm39)	S494P	probably damaging	Het
Cd320	G	A	17: 34,065,113 (GRCm39)	C82Y	probably damaging	Het
Cdc16	T	A	8: 13,817,552 (GRCm39)	S288T	possibly damaging	Het
Chrne	A	G	11: 70,507,779 (GRCm39)		probably null	Het
Col12a1	G	A	9: 79,546,960 (GRCm39)	Q2291*	probably null	Het
Cps1	A	G	1: 67,213,649 (GRCm39)	S794G	probably benign	Het
Csmd1	A	T	8: 16,261,772 (GRCm39)	D908E	probably benign	Het
Dpf1	C	T	7: 29,009,084 (GRCm39)	Q70*	probably null	Het
Fam227a	A	T	15: 79,526,444 (GRCm39)	N129K	probably benign	Het
Fcho2	T	A	13: 98,913,965 (GRCm39)	I211F	probably benign	Het
Fezf1	T	C	6: 23,247,574 (GRCm39)	D167G	probably benign	Het
Flt3	G	A	5: 147,293,694 (GRCm39)	P461S	probably benign	Het
Fry	G	T	5: 150,282,318 (GRCm39)	A314S	probably damaging	Het
Gm6309	A	G	5: 146,105,026 (GRCm39)	S296P	probably benign	Het
Hmcn1	G	T	1: 150,619,492 (GRCm39)	S1207R	probably benign	Het
Iars1	C	T	13: 49,840,885 (GRCm39)	P6L	probably damaging	Het
Kdm5d	T	A	Y: 943,075 (GRCm39)	S1519R	possibly damaging	Het
Kpna2	G	A	11: 106,881,541 (GRCm39)	T363I	probably damaging	Het
Lrp1b	A	T	2: 41,075,982 (GRCm39)	H1886Q		Het
Meak7	T	C	8: 120,488,514 (GRCm39)	E436G	probably damaging	Het
Mettl5	C	T	2: 69,711,723 (GRCm39)	D48N	probably benign	Het
Mfsd4a	C	T	1: 131,969,628 (GRCm39)	G442S	probably damaging	Het
Mief2	A	G	11: 60,622,074 (GRCm39)	T215A	probably damaging	Het
Myt1	C	T	2: 181,452,135 (GRCm39)	T824I	probably damaging	Het
Naprt	C	A	15: 75,765,281 (GRCm39)	V148L	possibly damaging	Het
Nckap1l	C	T	15: 103,382,277 (GRCm39)	R491C	probably damaging	Het
Nr1i2	A	G	16: 38,071,573 (GRCm39)	M321T	possibly damaging	Het
Nup107	A	T	10: 117,610,383 (GRCm39)	I355N	possibly damaging	Het
Or10j2	G	A	1: 173,098,183 (GRCm39)	G147D	possibly damaging	Het
Or10x4	A	T	1: 174,218,898 (GRCm39)	N88Y	probably benign	Het
Or1e28-ps1	A	G	11: 73,615,658 (GRCm39)	I64T	probably benign	Het
Or1l4b	T	G	2: 37,036,518 (GRCm39)	M98R	probably damaging	Het
Or4a80	T	G	2: 89,582,636 (GRCm39)	I179L	probably benign	Het
Or4k35	T	G	2: 111,100,287 (GRCm39)	I142L	probably benign	Het
Pccb	T	C	9: 100,876,634 (GRCm39)	D320G	possibly damaging	Het
Pcdhgb6	A	T	18: 37,875,561 (GRCm39)	I90L	probably benign	Het
Pik3r2	A	G	8: 71,221,459 (GRCm39)	S682P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plagl1	A	G	10: 13,004,466 (GRCm39)	Q578R	unknown	Het
Ppp1r42	A	G	1: 10,073,563 (GRCm39)	I9T	probably benign	Het
Ptcd3	A	T	6: 71,871,275 (GRCm39)	I315K	possibly damaging	Het
Rnf217	A	G	10: 31,484,402 (GRCm39)	L260P	probably damaging	Het
Selp	A	T	1: 163,968,975 (GRCm39)	H525L	possibly damaging	Het
Sh3rf2	T	A	18: 42,244,347 (GRCm39)	M303K	probably benign	Het
Shprh	A	T	10: 11,082,076 (GRCm39)	I1549F	probably damaging	Het
Slc38a7	G	T	8: 96,570,772 (GRCm39)	A244D	probably benign	Het
Stxbp6	G	T	12: 44,949,740 (GRCm39)	T63K	probably damaging	Het
Syne3	A	G	12: 104,898,468 (GRCm39)	S962P	probably damaging	Het
Syt10	T	C	15: 89,711,135 (GRCm39)	I133V	probably damaging	Het
Tars1	T	A	15: 11,394,446 (GRCm39)	K64*	probably null	Het
Tcaf3	A	T	6: 42,566,636 (GRCm39)	W818R	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim72	C	A	7: 127,609,092 (GRCm39)	A298E	probably damaging	Het
Washc5	C	T	15: 59,218,062 (GRCm39)		probably null	Het
Zfp707	C	A	15: 75,847,085 (GRCm39)	F378L	possibly damaging	Het
Zfp839	G	A	12: 110,822,280 (GRCm39)	A365T	probably 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
R0553:Gmppb	UTSW	9	107,926,996 (GRCm39)	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- AATGTACTTGTGGTGAGGCCC -3'
(R):5'- TGACATCTTCACCCAGCACTG -3'

Sequencing Primer
(F):5'- TGGTGAGGCCCTTGTCCAG -3'
(R):5'- AGCACTGTTACATTCTCCATGCG -3'

Posted On

2022-10-06