Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Gmppa'

390681

Institutional Source

Beutler Lab

Gene Symbol

Gmppa

Ensembl Gene

ENSMUSG00000033021

Gene Name

GDP-mannose pyrophosphorylase A

Synonyms

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75435930-75443179 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 75439371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 137 (Y137*)

Ref Sequence

ENSEMBL: ENSMUSP00000139936 (fasta)

Gene Model

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

AlphaFold

Q922H4

Predicted Effect

probably null
Transcript: ENSMUST00000037796
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: Y152*

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 null
Transcript: ENSMUST00000113584
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: Y152*

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 null
Transcript: ENSMUST00000131545
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021
AA Change: Y152*

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 null
Transcript: ENSMUST00000133418
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021
AA Change: Y152*

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 null
Transcript: ENSMUST00000140287
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021
AA Change: Y152*

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 null
Transcript: ENSMUST00000143730
AA Change: Y152*

SMART Domains

Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021
AA Change: Y152*

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 null
Transcript: ENSMUST00000144874
AA Change: Y117*

SMART Domains

Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021
AA Change: Y117*

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 null
Transcript: ENSMUST00000188097
AA Change: Y137*

SMART Domains

Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021
AA Change: Y137*

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	probably damaging	Het

Other mutations in Gmppa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Gmppa	APN	1	75437017	missense	probably damaging	0.98
IGL02418:Gmppa	APN	1	75439020	missense	probably damaging	1.00
IGL02899:Gmppa	APN	1	75441830	splice site	probably null
IGL03009:Gmppa	APN	1	75439370	missense	probably damaging	1.00
PIT4151001:Gmppa	UTSW	1	75441824	nonsense	probably null
R0708:Gmppa	UTSW	1	75442574	missense	probably damaging	1.00
R1352:Gmppa	UTSW	1	75440534	missense	probably benign	0.00
R1886:Gmppa	UTSW	1	75442508	missense	probably damaging	1.00
R2000:Gmppa	UTSW	1	75441528	missense	probably damaging	1.00
R3053:Gmppa	UTSW	1	75441756	missense	probably benign	0.04
R4301:Gmppa	UTSW	1	75442496	missense	possibly damaging	0.77
R5791:Gmppa	UTSW	1	75442255	missense	possibly damaging	0.58
R6801:Gmppa	UTSW	1	75441747	missense	possibly damaging	0.94
R7806:Gmppa	UTSW	1	75438937	missense	probably damaging	1.00
R8105:Gmppa	UTSW	1	75436997	missense	possibly damaging	0.82
R8747:Gmppa	UTSW	1	75439381	missense	probably damaging	0.97
R8878:Gmppa	UTSW	1	75438288	missense	probably damaging	1.00
R9491:Gmppa	UTSW	1	75438958	missense	probably damaging	0.98
R9541:Gmppa	UTSW	1	75440450	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACCCTGAGCCCTTTGGTTG -3'
(R):5'- CACTCCTACAGAAACGAGCTGG -3'

Sequencing Primer
(F):5'- AGCCCTTTGGTTGCTGGAAAG -3'
(R):5'- GAAACGAGCTGGCGCCC -3'

Posted On

2016-06-06