Mutagenetix > Incidental Mutation

Incidental Mutation 'R7806:Gmppa'

600748

Institutional Source

Beutler Lab

Gene Symbol

Gmppa

Ensembl Gene

ENSMUSG00000033021

Gene Name

GDP-mannose pyrophosphorylase A

Synonyms

1810012N01Rik

MMRRC Submission

045861-MU

Accession Numbers

Essential gene?

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

Stock #

R7806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75412574-75419823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75415581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 113 (L113P)

Ref Sequence

ENSEMBL: ENSMUSP00000035564 (fasta)

Gene Model

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

AlphaFold

Q922H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000037796
AA Change: L113P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: L113P

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: L113P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: L113P

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

probably damaging
Transcript: ENSMUST00000131545
AA Change: L113P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
AA Change: L113P

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

probably damaging
Transcript: ENSMUST00000133418
AA Change: L113P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
AA Change: L113P

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

probably damaging
Transcript: ENSMUST00000140287
AA Change: L113P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021
AA Change: L113P

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 damaging
Transcript: ENSMUST00000143730
AA Change: L113P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021
AA Change: L113P

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 damaging
Transcript: ENSMUST00000144874
AA Change: L78P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: L78P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000188097
AA Change: L98P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021
AA Change: L98P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (83/85)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,569,143 (GRCm39)	V144F	probably benign	Het
Aar2	T	A	2: 156,393,031 (GRCm39)	I140N	possibly damaging	Het
Abca15	A	G	7: 119,932,059 (GRCm39)	N104S	probably damaging	Het
Adam22	A	T	5: 8,142,825 (GRCm39)	N803K	probably damaging	Het
Adk	A	G	14: 21,376,679 (GRCm39)	N26S		Het
Ak9	A	C	10: 41,309,080 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,482,487 (GRCm39)	D40G	probably benign	Het
Ankrd65	A	T	4: 155,877,437 (GRCm39)	H316L	probably benign	Het
Cabp7	C	T	11: 4,688,889 (GRCm39)	A194T	probably damaging	Het
Ccdc180	A	C	4: 45,912,801 (GRCm39)	K593N	possibly damaging	Het
Cd80	A	G	16: 38,294,315 (GRCm39)	D66G	probably benign	Het
Cdh5	T	C	8: 104,867,448 (GRCm39)	V575A	probably damaging	Het
Cep350	T	C	1: 155,737,809 (GRCm39)	Q2678R	probably benign	Het
Cideb	G	A	14: 55,992,625 (GRCm39)	T97M	probably damaging	Het
Clca4b	T	C	3: 144,638,157 (GRCm39)	D35G	probably benign	Het
Clpx	T	C	9: 65,207,213 (GRCm39)	V37A	probably benign	Het
Cmya5	A	C	13: 93,230,770 (GRCm39)	S1439R	probably benign	Het
Cndp2	T	A	18: 84,688,945 (GRCm39)	H279L	probably benign	Het
Cngb1	A	T	8: 96,025,432 (GRCm39)		probably null	Het
Cpq	T	A	15: 33,497,443 (GRCm39)	N394K	possibly damaging	Het
Dedd	T	C	1: 171,166,062 (GRCm39)	L60P	probably benign	Het
Dennd3	C	A	15: 73,442,624 (GRCm39)	L1216M	possibly damaging	Het
Dntt	A	T	19: 41,018,071 (GRCm39)	N65I	probably benign	Het
Fap	T	A	2: 62,333,758 (GRCm39)	E662V	probably damaging	Het
Fasn	A	T	11: 120,700,821 (GRCm39)	M2066K	probably benign	Het
Fggy	G	A	4: 95,489,203 (GRCm39)	G69E	probably benign	Het
Foxc1	G	T	13: 31,992,739 (GRCm39)	G517C	unknown	Het
Gas2l3	A	G	10: 89,249,232 (GRCm39)	Y629H	probably benign	Het
Gcnt2	A	G	13: 41,071,717 (GRCm39)	N120S	probably damaging	Het
Gfpt2	A	G	11: 49,714,142 (GRCm39)	T300A	probably benign	Het
Glud1	A	G	14: 34,065,606 (GRCm39)	R535G	probably damaging	Het
Gm3248	T	A	14: 5,943,883 (GRCm38)	I114L	probably benign	Het
Gm3278	G	A	14: 16,082,211 (GRCm39)		probably null	Het
Gm3402	A	C	5: 146,451,090 (GRCm39)	K44Q	probably damaging	Het
Gm3696	C	G	14: 18,433,094 (GRCm39)	R188S	probably benign	Het
Gm3696	C	A	14: 18,433,095 (GRCm39)	R188M	probably benign	Het
Gmps	A	G	3: 63,890,091 (GRCm39)		probably null	Het
Gnal	T	A	18: 67,346,145 (GRCm39)	M275K	probably damaging	Het
Gopc	G	C	10: 52,229,525 (GRCm39)	N231K	probably damaging	Het
Gpr152	T	C	19: 4,193,487 (GRCm39)	S343P	probably benign	Het
Gpr17	T	C	18: 32,080,593 (GRCm39)	I157V	probably benign	Het
Grm7	T	A	6: 111,223,314 (GRCm39)	Y451*	probably null	Het
Ikbke	T	C	1: 131,199,635 (GRCm39)	E286G	probably damaging	Het
Inpp5b	A	T	4: 124,678,881 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,818,765 (GRCm39)	L664F	probably benign	Het
Kif17	A	G	4: 138,015,507 (GRCm39)	E552G	possibly damaging	Het
Lamtor1	T	A	7: 101,555,220 (GRCm39)	Y5*	probably null	Het
Lpin2	A	G	17: 71,552,166 (GRCm39)	I829V	probably damaging	Het
Lrg1	T	G	17: 56,426,967 (GRCm39)	D335A	probably benign	Het
Lrriq3	T	C	3: 154,804,444 (GRCm39)	Y35H	probably damaging	Het
Mkx	T	A	18: 7,000,607 (GRCm39)	M112L	probably benign	Het
Mlxipl	A	C	5: 135,163,397 (GRCm39)	D760A	possibly damaging	Het
Muc6	T	C	7: 141,217,387 (GRCm39)	T2429A	possibly damaging	Het
N4bp2l2	A	G	5: 150,566,715 (GRCm39)	C134R	unknown	Het
Nanos1	A	G	19: 60,744,972 (GRCm39)	E90G	probably benign	Het
Nckap1	T	C	2: 80,371,843 (GRCm39)	D329G	probably damaging	Het
Or13a18	T	C	7: 140,190,685 (GRCm39)	I194T	probably benign	Het
Or14j9	A	C	17: 37,875,112 (GRCm39)	L30R	probably damaging	Het
Or8b12c	T	C	9: 37,715,872 (GRCm39)	S222P	probably damaging	Het
Or8g51	G	T	9: 38,609,567 (GRCm39)	L32I	probably benign	Het
Osbpl7	A	G	11: 96,946,954 (GRCm39)	H419R	probably benign	Het
Otog	C	T	7: 45,935,200 (GRCm39)	T1395I	probably benign	Het
Pigq	T	A	17: 26,150,700 (GRCm39)	I451F	probably benign	Het
Ptgfrn	A	G	3: 100,984,448 (GRCm39)	V248A	possibly damaging	Het
Rdh19	G	T	10: 127,692,740 (GRCm39)	V136L	probably damaging	Het
Rfesd	T	C	13: 76,156,308 (GRCm39)	T33A	possibly damaging	Het
Rnf213	G	A	11: 119,302,371 (GRCm39)	V432M		Het
Rpl22l1	T	A	3: 28,860,962 (GRCm39)	L60Q	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sbf1	A	G	15: 89,189,623 (GRCm39)	V419A	possibly damaging	Het
Serpinb6a	T	C	13: 34,119,548 (GRCm39)		probably null	Het
Slc22a4	A	G	11: 53,881,476 (GRCm39)	L414P	probably damaging	Het
Smarcd3	A	T	5: 24,798,260 (GRCm39)	V420D	probably benign	Het
Tcaim	A	G	9: 122,663,995 (GRCm39)	D495G	probably damaging	Het
Tep1	A	G	14: 51,074,266 (GRCm39)	V1873A	possibly damaging	Het
Tmcc2	T	C	1: 132,288,527 (GRCm39)	N387D	probably damaging	Het
Tmed8	A	T	12: 87,219,204 (GRCm39)	I322N	probably damaging	Het
Tmod4	A	C	3: 95,034,915 (GRCm39)	D168A	probably benign	Het
Trgc2	A	T	13: 19,491,390 (GRCm39)		probably benign	Het
Trp53bp1	C	T	2: 121,035,542 (GRCm39)	E1520K	probably damaging	Het
Trpv5	T	A	6: 41,651,867 (GRCm39)	I183F	probably damaging	Het
Vmn2r70	A	T	7: 85,208,401 (GRCm39)	I692K	probably benign	Het
Vmn2r87	T	A	10: 130,315,679 (GRCm39)	Y129F	probably benign	Het
Vps8	A	G	16: 21,278,501 (GRCm39)	D253G	probably damaging	Het
Ythdc2	T	C	18: 44,977,353 (GRCm39)	I383T	possibly damaging	Het
Ythdc2	T	C	18: 44,983,491 (GRCm39)	S553P	probably benign	Het
Zfyve26	A	G	12: 79,327,129 (GRCm39)		probably null	Het
Zic1	G	A	9: 91,247,024 (GRCm39)	T16I	probably 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
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
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'- TTAATATGCGGTTTCCTTGCAG -3'
(R):5'- TGGAGTAGCACATCTCCCTC -3'

Sequencing Primer
(F):5'- TTTCCTTGCAGACCCAGGG -3'
(R):5'- GAGTAGCACATCTCCCTCCCAAC -3'

Posted On

2019-11-26