Mutagenetix > Incidental Mutation

Incidental Mutation 'R9073:Pmm1'

692907

Institutional Source

Beutler Lab

Gene Symbol

Pmm1

Ensembl Gene

ENSMUSG00000022474

Gene Name

phosphomannomutase 1

Synonyms

Secp53 (yeast) homolog

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81835309-81845131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 81839896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 143 (R143H)

Ref Sequence

ENSEMBL: ENSMUSP00000023112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000038757] [ENSMUST00000071462] [ENSMUST00000155781] [ENSMUST00000230229]

AlphaFold

O35621

Predicted Effect

probably damaging
Transcript: ENSMUST00000023112
AA Change: R143H

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

SMART Domains

Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: R143H

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 benign
Transcript: ENSMUST00000038757

SMART Domains

Protein: ENSMUSP00000044441
Gene: ENSMUSG00000042109

Domain	Start	End	E-Value	Type
low complexity region	52	66	N/A	INTRINSIC
CSP	71	136	6.71e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000071462
AA Change: R83H

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

SMART Domains

Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: R83H

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: R143H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,921,374 (GRCm39)	Y190*	probably null	Het
Agbl3	T	C	6: 34,776,387 (GRCm39)	C298R	probably damaging	Het
Ankrd26	T	A	6: 118,500,350 (GRCm39)	K1040N	probably damaging	Het
Ano3	T	A	2: 110,576,243 (GRCm39)	T93S	probably benign	Het
Apoc3	T	A	9: 46,144,532 (GRCm39)	I97F	probably benign	Het
Arid5a	A	G	1: 36,358,626 (GRCm39)	E401G	probably benign	Het
Atxn3	T	C	12: 101,903,730 (GRCm39)		probably null	Het
Brca1	C	T	11: 101,393,306 (GRCm39)		probably null	Het
C1ql3	T	A	2: 13,015,198 (GRCm39)	N154I	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Ccdc110	A	T	8: 46,395,875 (GRCm39)	M589L	probably benign	Het
Ccnb2	A	T	9: 70,318,095 (GRCm39)	F226I	possibly damaging	Het
Clasp1	C	A	1: 118,390,193 (GRCm39)		probably null	Het
Commd8	TTGTCATCT	TT	5: 72,318,327 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,332,647 (GRCm39)	T262A	probably benign	Het
Eif4a2	G	A	16: 22,929,403 (GRCm39)	R234Q	probably benign	Het
Ephx2	G	A	14: 66,323,688 (GRCm39)	R481*	probably null	Het
Fbxo15	T	C	18: 84,983,645 (GRCm39)	I331T	possibly damaging	Het
Gfra2	A	G	14: 71,138,935 (GRCm39)	E121G	possibly damaging	Het
Git1	G	A	11: 77,389,901 (GRCm39)	A55T	probably benign	Het
Gm12887	G	T	4: 121,479,238 (GRCm39)		probably null	Het
Hfm1	T	C	5: 107,046,146 (GRCm39)	I553V	probably benign	Het
Hydin	G	A	8: 110,994,083 (GRCm39)		probably null	Het
Iqgap3	A	G	3: 88,016,773 (GRCm39)	N1085S		Het
Kbtbd12	T	C	6: 88,595,422 (GRCm39)	Y136C	probably damaging	Het
Kcng3	A	G	17: 83,938,423 (GRCm39)	Y209H	possibly damaging	Het
Kcnj2	A	T	11: 110,962,664 (GRCm39)	M19L	possibly damaging	Het
Lonrf2	A	T	1: 38,850,867 (GRCm39)	F232I	probably damaging	Het
Lrrc31	T	C	3: 30,753,859 (GRCm39)	D14G	probably benign	Het
Ly6l	G	A	15: 75,321,585 (GRCm39)	V62I	possibly damaging	Het
Marchf8	T	C	6: 116,378,884 (GRCm39)	F273L	probably benign	Het
Masp1	A	C	16: 23,288,671 (GRCm39)	S710A	probably benign	Het
Mcm10	G	A	2: 5,013,414 (GRCm39)	R73C	possibly damaging	Het
Mcm5	G	A	8: 75,852,934 (GRCm39)	R682H	probably damaging	Het
Mink1	C	T	11: 70,499,207 (GRCm39)	T684I	possibly damaging	Het
Mocos	A	T	18: 24,797,089 (GRCm39)	Q83L	probably damaging	Het
Nags	T	C	11: 102,038,347 (GRCm39)	L351P	probably damaging	Het
Nalcn	G	A	14: 123,532,863 (GRCm39)	T1299I	possibly damaging	Het
Nlrp4b	A	G	7: 10,459,870 (GRCm39)	D824G	probably benign	Het
Nwd1	A	T	8: 73,422,046 (GRCm39)	M1031L	probably benign	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or4c101	A	C	2: 88,390,658 (GRCm39)	I271L	probably benign	Het
Or4k40	A	T	2: 111,250,705 (GRCm39)	I197N	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or5b112	A	G	19: 13,319,238 (GRCm39)	T39A	possibly damaging	Het
Or5d37	T	A	2: 87,924,172 (GRCm39)	Q36L	probably benign	Het
Pan2	T	C	10: 128,151,050 (GRCm39)	M807T	probably damaging	Het
Parp8	A	T	13: 117,047,951 (GRCm39)	I222N	probably damaging	Het
Pou1f1	T	C	16: 65,328,833 (GRCm39)	L186P		Het
Ppargc1b	G	A	18: 61,443,730 (GRCm39)	R494W	probably damaging	Het
Prg4	G	T	1: 150,331,288 (GRCm39)	P462T	unknown	Het
Ptcd1	T	A	5: 145,091,525 (GRCm39)	I525L	probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pum1	T	C	4: 130,480,172 (GRCm39)	F693S	probably damaging	Het
Rad51b	T	G	12: 79,344,439 (GRCm39)		probably benign	Het
Rgs12	A	T	5: 35,177,753 (GRCm39)		probably benign	Het
Ribc2	A	C	15: 85,022,163 (GRCm39)	Q186P	probably damaging	Het
Sesn2	C	A	4: 132,224,195 (GRCm39)		probably null	Het
Sgf29	G	A	7: 126,271,826 (GRCm39)	V284M	probably damaging	Het
Skap2	C	T	6: 51,856,750 (GRCm39)		probably null	Het
Smap1	T	A	1: 23,961,154 (GRCm39)	E28V	probably damaging	Het
Smc3	A	G	19: 53,617,200 (GRCm39)	N538D	probably benign	Het
Spen	T	C	4: 141,203,702 (GRCm39)	T1642A	unknown	Het
Spred3	G	A	7: 28,865,955 (GRCm39)	R115*	probably null	Het
Sugt1	T	A	14: 79,866,293 (GRCm39)	M304K	possibly damaging	Het
Sval1	T	C	6: 41,928,606 (GRCm39)	I6T	possibly damaging	Het
Svil	T	C	18: 5,097,500 (GRCm39)	I1574T	probably benign	Het
Ticrr	T	A	7: 79,317,679 (GRCm39)	D404E	probably benign	Het
Tinag	T	A	9: 76,904,300 (GRCm39)		probably null	Het
Tpbg	A	T	9: 85,724,924 (GRCm39)		probably null	Het
Trak1	T	C	9: 121,289,554 (GRCm39)	L622P	probably damaging	Het
Ttn	C	T	2: 76,586,218 (GRCm39)	D21838N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r73	C	T	7: 11,490,203 (GRCm39)	A7V	probably benign	Het
Yy1	G	T	12: 108,759,921 (GRCm39)	G195C	probably benign	Het
Zbtb17	T	A	4: 141,193,676 (GRCm39)	C607S	possibly damaging	Het
Zfp735	T	C	11: 73,603,060 (GRCm39)	V668A	probably benign	Het
Zfp819	C	A	7: 43,266,570 (GRCm39)	T351K	probably damaging	Het
Zfp820	C	A	17: 22,039,031 (GRCm39)	S99I	possibly damaging	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
R7184:Pmm1	UTSW	15	81,840,415 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAATGTGCAATCGTAATATGACC -3'
(R):5'- ACTCATGGCTGGGTGGATTC -3'

Sequencing Primer
(F):5'- GTGCAATCGTAATATGACCATAGC -3'
(R):5'- TTAAAGGAGTGTTCCAGCACC -3'

Posted On

2021-12-30