Mutagenetix > Incidental Mutation

Incidental Mutation 'R2000:Gmppa'

225807

Institutional Source

Beutler Lab

Gene Symbol

Gmppa

Ensembl Gene

ENSMUSG00000033021

Gene Name

GDP-mannose pyrophosphorylase A

Synonyms

1810012N01Rik

MMRRC Submission

040010-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.460) question?

Stock #

R2000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75412574-75419823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 75418172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 190 (D190A)

Ref Sequence

ENSEMBL: ENSMUSP00000121418 (fasta)

Gene Model

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

AlphaFold

Q922H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037796
AA Change: D225A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: D225A

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: D225A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: D225A

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 damaging
Transcript: ENSMUST00000144874
AA Change: D190A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: D190A

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

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: 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: 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

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,693,584 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,777,508 (GRCm39)	Y186H	probably damaging	Het
Birc6	T	C	17: 74,911,614 (GRCm39)	V1528A	possibly damaging	Het
Brpf3	A	C	17: 29,040,531 (GRCm39)	E984A	probably benign	Het
Btnl9	T	C	11: 49,059,948 (GRCm39)	N600S	probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874 (GRCm39)	L136H	probably damaging	Het
Cd46	A	G	1: 194,760,012 (GRCm39)	I280T	probably benign	Het
Cip2a	A	T	16: 48,835,332 (GRCm39)	Q699L	probably damaging	Het
Crebbp	A	T	16: 3,902,116 (GRCm39)	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,870,160 (GRCm39)		probably benign	Het
Dph7	T	A	2: 24,861,653 (GRCm39)	D355E	probably benign	Het
Dync1li1	C	A	9: 114,542,631 (GRCm39)	F264L	probably benign	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Fosl1	A	G	19: 5,500,383 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,084,400 (GRCm39)	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113 (GRCm39)	F14S	probably benign	Het
Gm15446	T	C	5: 110,090,677 (GRCm39)	S310P	possibly damaging	Het
Gpr108	C	T	17: 57,543,712 (GRCm39)	G455S	probably benign	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Gvin-ps6	G	A	7: 106,022,438 (GRCm39)	S188L	probably benign	Het
Gzf1	T	C	2: 148,526,531 (GRCm39)	I334T	probably benign	Het
Hadh	A	T	3: 131,038,888 (GRCm39)	I156K	probably benign	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Ice1	C	T	13: 70,750,546 (GRCm39)	V47M	possibly damaging	Het
Ifnl3	G	T	7: 28,222,354 (GRCm39)	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,716,176 (GRCm39)	Y978*	probably null	Het
Kif1a	G	T	1: 92,982,051 (GRCm39)	T792N	probably damaging	Het
Lgals9	T	C	11: 78,863,996 (GRCm39)	N50D	probably benign	Het
Lrp2	A	G	2: 69,297,434 (GRCm39)	Y3176H	probably damaging	Het
Lvrn	A	T	18: 47,038,374 (GRCm39)	N976I	probably benign	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Myo1c	A	T	11: 75,561,405 (GRCm39)	M820L	probably damaging	Het
Neb	A	T	2: 52,102,982 (GRCm39)	C4222*	probably null	Het
Nkain2	T	A	10: 32,766,281 (GRCm39)		probably benign	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Pnma8a	T	A	7: 16,694,964 (GRCm39)	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,887,446 (GRCm39)	E486G	probably damaging	Het
Pth2	C	A	7: 44,831,146 (GRCm39)	R98S	possibly damaging	Het
Ramacl	A	T	13: 67,056,214 (GRCm39)	N69I	possibly damaging	Het
Rif1	T	A	2: 51,971,310 (GRCm39)	F263I	probably damaging	Het
Rnf213	A	T	11: 119,326,848 (GRCm39)	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,560,321 (GRCm39)	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,176,206 (GRCm39)	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,050,200 (GRCm39)	E273G	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttf1	T	A	2: 28,955,197 (GRCm39)	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,293,166 (GRCm39)		probably null	Het
Uox	A	C	3: 146,316,154 (GRCm39)	K30Q	possibly damaging	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Wwc1	A	T	11: 35,767,374 (GRCm39)	L419Q	probably damaging	Het
Xrn1	C	T	9: 95,927,616 (GRCm39)	Q1463*	probably null	Het
Yeats2	G	A	16: 20,005,141 (GRCm39)	A393T	probably benign	Het
Zfp101	C	T	17: 33,600,491 (GRCm39)	A422T	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
R0708:Gmppa	UTSW	1	75,419,218 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCTTGGTAAAGCAGCTAAGCG -3'
(R):5'- TGGTATCGCCCCAGATAGAG -3'

Sequencing Primer
(F):5'- GAAAGGAGTGGCAAAAACCCCTTC -3'
(R):5'- CATAAAGGGCTGAGCTGGGGAC -3'

Posted On

2014-08-25