Mutagenetix > Incidental Mutation

Incidental Mutation 'R0708:Gmppa'

63839

Institutional Source

Beutler Lab

Gene Symbol

Gmppa

Ensembl Gene

ENSMUSG00000033021

Gene Name

GDP-mannose pyrophosphorylase A

Synonyms

1810012N01Rik

MMRRC Submission

038891-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R0708 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

75412574-75419823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75419218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 375 (F375S)

Ref Sequence

ENSEMBL: ENSMUSP00000109214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037796] [ENSMUST00000113584] [ENSMUST00000131545] [ENSMUST00000133418] [ENSMUST00000188097] [ENSMUST00000140287] [ENSMUST00000141124] [ENSMUST00000143730] [ENSMUST00000144874] [ENSMUST00000145166]

AlphaFold

Q922H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037796
AA Change: F375S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: F375S

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	1.2e-30	PFAM
Pfam:NTP_transf_3	4	206	4.1e-10	PFAM
Pfam:Hexapep	280	321	2.6e-8	PFAM
low complexity region	357	365	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113584
AA Change: F375S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: F375S

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	1.6e-28	PFAM
Pfam:NTP_transf_3	4	206	1.6e-9	PFAM
Pfam:Hexapep	286	321	4.3e-8	PFAM
low complexity region	357	365	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124539

Predicted Effect

probably benign
Transcript: ENSMUST00000131545

SMART Domains

Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	7.2e-31	PFAM
Pfam:NTP_transf_3	4	157	1.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132291

Predicted Effect

probably benign
Transcript: ENSMUST00000133418

SMART Domains

Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	6.8e-31	PFAM
Pfam:NTP_transf_3	4	204	1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135453

Predicted Effect

probably benign
Transcript: ENSMUST00000188097

SMART Domains

Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	1	150	2.3e-15	PFAM
Pfam:NTP_transf_3	2	142	9.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140287

SMART Domains

Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	161	1.7e-22	PFAM
Pfam:NTP_transf_3	4	155	6.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141124

SMART Domains

Protein: ENSMUSP00000116783
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	72	1.1e-13	PFAM
Pfam:NTP_transf_3	4	71	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143730

SMART Domains

Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	196	1.1e-30	PFAM
Pfam:NTP_transf_3	4	173	9.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144874

SMART Domains

Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	1	174	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145166

SMART Domains

Protein: ENSMUSP00000116754
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	91	5.2e-15	PFAM
Pfam:NTP_transf_3	4	88	1.4e-9	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.3%

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. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brdt	A	T	5: 107,506,766 (GRCm39)	K450*	probably null	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Col9a1	A	T	1: 24,276,342 (GRCm39)	Q750L	possibly damaging	Het
Dnah6	A	T	6: 73,189,605 (GRCm39)	S14R	probably benign	Het
Enox1	A	G	14: 77,830,352 (GRCm39)	N319S	probably benign	Het
Frs2	G	A	10: 116,909,997 (GRCm39)	T455M	probably damaging	Het
Glra3	C	T	8: 56,578,399 (GRCm39)		probably benign	Het
Hectd4	G	A	5: 121,424,526 (GRCm39)		probably null	Het
Hgf	C	A	5: 16,771,761 (GRCm39)	C129*	probably null	Het
Insc	T	A	7: 114,444,381 (GRCm39)	V456E	probably damaging	Het
Ints14	G	A	9: 64,891,266 (GRCm39)	V416I	probably benign	Het
Klk1b11	T	C	7: 43,647,152 (GRCm39)	F29L	possibly damaging	Het
Ogfod1	C	T	8: 94,765,673 (GRCm39)	L79F	possibly damaging	Het
Or8d2b	T	A	9: 38,788,571 (GRCm39)	V33E	probably damaging	Het
Orc3	A	T	4: 34,597,368 (GRCm39)	I224N	probably damaging	Het
Papss2	T	C	19: 32,614,616 (GRCm39)	F111L	probably damaging	Het
Poc1b	A	G	10: 98,990,992 (GRCm39)	D291G	probably null	Het
Prl8a8	A	T	13: 27,695,528 (GRCm39)	M72K	possibly damaging	Het
Ptpn7	C	A	1: 135,062,285 (GRCm39)	T77K	probably damaging	Het
Ptpro	T	C	6: 137,363,251 (GRCm39)	S462P	probably benign	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Sema4d	A	G	13: 51,866,755 (GRCm39)	V245A	probably benign	Het
Sgcb	A	T	5: 73,798,225 (GRCm39)		probably null	Het
Slc24a1	T	A	9: 64,855,172 (GRCm39)	K578N	unknown	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Tecr	A	T	8: 84,299,738 (GRCm39)	I101N	probably damaging	Het
Tectb	T	C	19: 55,179,984 (GRCm39)	F277L	probably benign	Het
Tgs1	T	A	4: 3,586,152 (GRCm39)	L343H	probably benign	Het
Thbs4	C	A	13: 92,909,694 (GRCm39)	G368W	probably damaging	Het
Zfp558	T	C	9: 18,368,123 (GRCm39)	S222G	possibly damaging	Het

Other mutations in Gmppa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Gmppa	APN	1	75,413,661 (GRCm39)	missense	probably damaging	0.98
IGL02418:Gmppa	APN	1	75,415,664 (GRCm39)	missense	probably damaging	1.00
IGL02899:Gmppa	APN	1	75,418,474 (GRCm39)	splice site	probably null
IGL03009:Gmppa	APN	1	75,416,014 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Gmppa	UTSW	1	75,418,468 (GRCm39)	nonsense	probably null
R1352:Gmppa	UTSW	1	75,417,178 (GRCm39)	missense	probably benign	0.00
R1886:Gmppa	UTSW	1	75,419,152 (GRCm39)	missense	probably damaging	1.00
R2000:Gmppa	UTSW	1	75,418,172 (GRCm39)	missense	probably damaging	1.00
R3053:Gmppa	UTSW	1	75,418,400 (GRCm39)	missense	probably benign	0.04
R4301:Gmppa	UTSW	1	75,419,140 (GRCm39)	missense	possibly damaging	0.77
R5054:Gmppa	UTSW	1	75,416,015 (GRCm39)	nonsense	probably null
R5791:Gmppa	UTSW	1	75,418,899 (GRCm39)	missense	possibly damaging	0.58
R6801:Gmppa	UTSW	1	75,418,391 (GRCm39)	missense	possibly damaging	0.94
R7806:Gmppa	UTSW	1	75,415,581 (GRCm39)	missense	probably damaging	1.00
R8105:Gmppa	UTSW	1	75,413,641 (GRCm39)	missense	possibly damaging	0.82
R8747:Gmppa	UTSW	1	75,416,025 (GRCm39)	missense	probably damaging	0.97
R8878:Gmppa	UTSW	1	75,414,932 (GRCm39)	missense	probably damaging	1.00
R9491:Gmppa	UTSW	1	75,415,602 (GRCm39)	missense	probably damaging	0.98
R9541:Gmppa	UTSW	1	75,417,094 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGATCAAGAGGAGTGAGCCTCACC -3'
(R):5'- TTCAAGATGAGCACCTCGGCAG -3'

Sequencing Primer
(F):5'- AGTGAGCCTCACCCCAGG -3'
(R):5'- ctccagcctcatccccc -3'

Posted On

2013-07-30