Mutagenetix > Incidental Mutation

Incidental Mutation 'R7184:Pmm1'

559199

Institutional Source

Beutler Lab

Gene Symbol

Pmm1

Ensembl Gene

ENSMUSG00000022474

Gene Name

phosphomannomutase 1

Synonyms

Secp53 (yeast) homolog

MMRRC Submission

045236-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7184 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81835309-81845131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81840415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 110 (N110S)

Ref Sequence

ENSEMBL: ENSMUSP00000023112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000071462] [ENSMUST00000155781] [ENSMUST00000230229]

AlphaFold

O35621

Predicted Effect

probably damaging
Transcript: ENSMUST00000023112
AA Change: N110S

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

SMART Domains

Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: N110S

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_3	16	209	7.1e-9	PFAM
Pfam:PMM	35	256	9.1e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071462
AA Change: N50S

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

SMART Domains

Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: N50S

Domain	Start	End	E-Value	Type
Pfam:PMM	16	196	1.4e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155781

SMART Domains

Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474

Domain	Start	End	E-Value	Type
PDB:2FUE\|A	1	49	7e-21	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000230229
AA Change: N110S

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

Meta Mutation Damage Score

0.8308

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,094,219 (GRCm39)	S500P	possibly damaging	Het
Aldh9a1	T	A	1: 167,184,965 (GRCm39)	N292K	probably benign	Het
Art2b	A	T	7: 101,229,658 (GRCm39)	S80R	probably benign	Het
Atp6v1b2	G	T	8: 69,555,219 (GRCm39)	A194S	possibly damaging	Het
Bsnd	T	C	4: 106,349,109 (GRCm39)	M44V	probably damaging	Het
Cadps2	A	T	6: 23,583,428 (GRCm39)	V383E	probably benign	Het
Cd93	T	C	2: 148,284,459 (GRCm39)	T296A	possibly damaging	Het
Cdk15	G	T	1: 59,304,814 (GRCm39)	E138D	probably benign	Het
Cdon	A	G	9: 35,375,191 (GRCm39)	I406V	probably benign	Het
Cfhr4	A	G	1: 139,660,822 (GRCm39)	V622A	possibly damaging	Het
Cyp3a41a	A	G	5: 145,642,663 (GRCm39)	V232A	probably benign	Het
Dbndd1	T	A	8: 124,235,860 (GRCm39)	D130V	probably damaging	Het
Dnah14	C	T	1: 181,532,094 (GRCm39)	R2294*	probably null	Het
Eddm3b	A	G	14: 51,354,387 (GRCm39)	Y125C	probably damaging	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Enah	A	T	1: 181,749,957 (GRCm39)	V294E	probably damaging	Het
Farp2	A	G	1: 93,531,137 (GRCm39)	E545G	probably damaging	Het
Farsb	T	C	1: 78,458,994 (GRCm39)	E22G	possibly damaging	Het
Fcsk	G	A	8: 111,613,788 (GRCm39)	P758S	probably damaging	Het
Fezf1	A	G	6: 23,247,835 (GRCm39)	V80A	probably benign	Het
Fpr2	T	C	17: 18,113,533 (GRCm39)	Y39H	unknown	Het
Fsd1l	C	A	4: 53,694,054 (GRCm39)	R344S	probably damaging	Het
Fxyd1	G	T	7: 30,751,401 (GRCm39)	R90S	unknown	Het
Galnt4	T	A	10: 98,944,466 (GRCm39)	Y64N	probably damaging	Het
Gatb	C	T	3: 85,544,258 (GRCm39)	Q409*	probably null	Het
Glipr2	A	C	4: 43,968,667 (GRCm39)	D73A	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gpr88	C	T	3: 116,045,643 (GRCm39)	V223I	possibly damaging	Het
Gtf2h3	A	G	5: 124,722,067 (GRCm39)	N55S	probably benign	Het
Htr4	T	A	18: 62,570,498 (GRCm39)	C184*	probably null	Het
Ighv6-3	T	A	12: 114,355,475 (GRCm39)	R71S	probably benign	Het
Itpr2	G	C	6: 146,212,585 (GRCm39)	I1510M	possibly damaging	Het
Keap1	T	C	9: 21,145,134 (GRCm39)	Q292R	probably benign	Het
Mab21l4	T	C	1: 93,082,237 (GRCm39)	N294S	probably benign	Het
Malt1	A	C	18: 65,580,764 (GRCm39)	E219D	probably benign	Het
Manba	T	C	3: 135,228,915 (GRCm39)	V279A	possibly damaging	Het
Map4k5	T	A	12: 69,921,095 (GRCm39)	H41L	probably benign	Het
Mcm2	T	G	6: 88,868,776 (GRCm39)	Y327S	probably damaging	Het
Nectin3	A	G	16: 46,215,484 (GRCm39)	I503T	possibly damaging	Het
Nqo1	T	C	8: 108,119,279 (GRCm39)	I99M	probably damaging	Het
Nrxn2	A	G	19: 6,540,582 (GRCm39)	H845R	probably damaging	Het
Otogl	C	T	10: 107,599,061 (GRCm39)	C2254Y	probably damaging	Het
Poc1b	G	T	10: 98,970,199 (GRCm39)	C68F	probably benign	Het
Polr1b	A	G	2: 128,965,842 (GRCm39)	Y828C	possibly damaging	Het
Prl3d1	A	G	13: 27,282,619 (GRCm39)	H119R	probably damaging	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rusc1	T	C	3: 88,999,194 (GRCm39)	E196G	possibly damaging	Het
Sf3a3	A	G	4: 124,608,772 (GRCm39)	K29E	probably benign	Het
Slc13a1	A	T	6: 24,092,311 (GRCm39)	I475K	probably damaging	Het
Slc26a5	G	T	5: 22,042,244 (GRCm39)	Y237*	probably null	Het
Slc7a14	C	T	3: 31,281,212 (GRCm39)	G366D	probably damaging	Het
Tbc1d5	A	G	17: 51,107,110 (GRCm39)	V482A	probably benign	Het
Tdrd5	G	T	1: 156,087,505 (GRCm39)	Q883K	probably benign	Het
Tet2	T	C	3: 133,179,391 (GRCm39)	Y1258C	probably damaging	Het
Upf2	A	G	2: 6,028,131 (GRCm39)	D739G	unknown	Het
Vmn1r122	A	T	7: 20,867,820 (GRCm39)	F78L	probably benign	Het
Vmn1r75	A	T	7: 11,614,915 (GRCm39)	K216*	probably null	Het
Vmn2r11	A	T	5: 109,201,281 (GRCm39)	Y408N	probably damaging	Het
Wscd1	T	A	11: 71,679,543 (GRCm39)	V472D	probably damaging	Het
Zdbf2	G	T	1: 63,345,664 (GRCm39)	V1348F	possibly damaging	Het
Zfp442	G	T	2: 150,250,056 (GRCm39)	H615Q	possibly damaging	Het
Zfp457	C	A	13: 67,442,065 (GRCm39)	C170F	possibly damaging	Het
Zscan10	A	G	17: 23,826,003 (GRCm39)		probably null	Het

Other mutations in Pmm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Pmm1	APN	15	81,839,945 (GRCm39)	missense	probably damaging	1.00
IGL01348:Pmm1	APN	15	81,836,219 (GRCm39)	missense	probably damaging	0.98
IGL01743:Pmm1	APN	15	81,844,987 (GRCm39)	missense	probably benign	0.02
R1564:Pmm1	UTSW	15	81,840,401 (GRCm39)	missense	probably damaging	1.00
R2202:Pmm1	UTSW	15	81,840,601 (GRCm39)	missense	probably benign	0.05
R5008:Pmm1	UTSW	15	81,842,095 (GRCm39)	critical splice donor site	probably null
R5775:Pmm1	UTSW	15	81,836,156 (GRCm39)	missense	probably benign	0.16
R6409:Pmm1	UTSW	15	81,845,008 (GRCm39)	missense	probably benign	0.01
R7545:Pmm1	UTSW	15	81,835,803 (GRCm39)	missense	probably damaging	0.97
R8248:Pmm1	UTSW	15	81,844,932 (GRCm39)	missense	possibly damaging	0.95
R9022:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9023:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9024:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9072:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9072:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9073:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9074:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9076:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9077:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9116:Pmm1	UTSW	15	81,839,896 (GRCm39)	missense	probably damaging	1.00
R9768:Pmm1	UTSW	15	81,840,460 (GRCm39)	missense	possibly damaging	0.83
RF013:Pmm1	UTSW	15	81,842,014 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCATGAGTTAGGGTCCTG -3'
(R):5'- CTACGTGTTTGCTGAGAATGGGAC -3'

Sequencing Primer
(F):5'- CCATGAGTTAGGGTCCTGGTGTAG -3'
(R):5'- TGCAGTATAAACACGGACGGCTAC -3'

Posted On

2019-06-26