Mutagenetix > Incidental Mutation

Incidental Mutation 'R9023:Pmm1'

686394

Institutional Source

Beutler Lab

Gene Symbol

Pmm1

Ensembl Gene

ENSMUSG00000022474

Gene Name

phosphomannomutase 1

Synonyms

Secp53 (yeast) homolog

MMRRC Submission

068853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9023 (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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,636,917 (GRCm39)	D760G	possibly damaging	Het
Adamts14	C	T	10: 61,038,780 (GRCm39)	S907N	probably damaging	Het
Adgrf1	A	T	17: 43,614,651 (GRCm39)	Y245F	possibly damaging	Het
Adgrl3	C	T	5: 81,613,065 (GRCm39)	A98V	probably damaging	Het
Afmid	A	T	11: 117,726,349 (GRCm39)	I186F	probably damaging	Het
Ago4	A	G	4: 126,400,596 (GRCm39)	Y706H	probably damaging	Het
Appl1	A	T	14: 26,685,652 (GRCm39)	S55R	possibly damaging	Het
Ash1l	A	G	3: 88,892,576 (GRCm39)	H1485R	probably damaging	Het
Atp6v0a2	C	T	5: 124,796,138 (GRCm39)	T734M	possibly damaging	Het
B3gat1	T	C	9: 26,663,069 (GRCm39)		probably benign	Het
Bcl7c	T	C	7: 127,306,504 (GRCm39)	N96D	probably benign	Het
Brca2	T	C	5: 150,465,360 (GRCm39)	L1708P	probably benign	Het
Ccl8	C	T	11: 82,006,873 (GRCm39)	P29S	possibly damaging	Het
Clpx	T	A	9: 65,234,115 (GRCm39)	C587S	probably null	Het
Coro2b	T	C	9: 62,332,978 (GRCm39)	D168G		Het
Dst	T	C	1: 34,153,105 (GRCm39)		probably null	Het
Eps8l1	C	T	7: 4,477,042 (GRCm39)	Q443*	probably null	Het
Fam131b	G	T	6: 42,298,946 (GRCm39)	N11K	possibly damaging	Het
Firrm	A	T	1: 163,818,300 (GRCm39)	I47N	possibly damaging	Het
Fry	T	C	5: 150,360,768 (GRCm39)	V125A	probably benign	Het
Ftcd	T	C	10: 76,417,413 (GRCm39)	F284S	probably damaging	Het
Glg1	A	G	8: 111,904,380 (GRCm39)	I617T	probably damaging	Het
Gm4847	C	T	1: 166,469,332 (GRCm39)	V111M	probably damaging	Het
Hcrtr2	C	T	9: 76,161,854 (GRCm39)	V179I	probably damaging	Het
Herc6	A	G	6: 57,595,612 (GRCm39)	N430S	probably benign	Het
Knl1	T	C	2: 118,900,761 (GRCm39)	S821P	probably benign	Het
Letm2	C	T	8: 26,077,236 (GRCm39)	V285I		Het
Map3k14	T	C	11: 103,129,835 (GRCm39)	T361A	possibly damaging	Het
Mmp10	A	T	9: 7,504,913 (GRCm39)	M236L	probably damaging	Het
Mmp16	A	G	4: 17,996,202 (GRCm39)	K97R	probably benign	Het
Muc6	T	A	7: 141,237,432 (GRCm39)	K194*	probably null	Het
Myo18a	A	G	11: 77,718,477 (GRCm39)	Y949C	probably damaging	Het
Nat8f1	A	G	6: 85,887,369 (GRCm39)	L197P	probably damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Or2aa1	A	T	11: 59,480,367 (GRCm39)	C183S	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Or8g24	T	C	9: 38,989,307 (GRCm39)	I245V	probably benign	Het
Parp3	T	C	9: 106,348,490 (GRCm39)	Y515C	probably damaging	Het
Pde11a	C	G	2: 75,966,803 (GRCm39)	A549P	probably damaging	Het
Pdlim4	T	C	11: 53,959,662 (GRCm39)		probably benign	Het
Pla2g4e	T	C	2: 120,001,718 (GRCm39)	T644A	probably benign	Het
Poglut2	T	C	1: 44,153,925 (GRCm39)	I175V	possibly damaging	Het
Prb1b	GAGGGGGTCTCTGCTGGGGGCCTCTCTGTGGGGGTGGGCCTTGTTGGTTTCCAGGCT	G	6: 132,289,174 (GRCm39)		probably null	Het
Prr7	A	G	13: 55,620,234 (GRCm39)	S133G	possibly damaging	Het
Pten	C	A	19: 32,795,412 (GRCm39)	D326E	possibly damaging	Het
Ranbp2	T	A	10: 58,315,343 (GRCm39)	L2021*	probably null	Het
Rassf5	T	C	1: 131,140,077 (GRCm39)	I161V	probably benign	Het
Ric1	C	A	19: 29,548,143 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,373,791 (GRCm39)	S1157P	probably damaging	Het
Serpinb1a	A	G	13: 33,029,763 (GRCm39)	V153A	probably damaging	Het
Shank1	T	C	7: 43,968,531 (GRCm39)	Y275H	unknown	Het
Slc6a18	C	T	13: 73,823,889 (GRCm39)	G84R	probably damaging	Het
Smarcc2	A	G	10: 128,301,093 (GRCm39)	E187G	probably damaging	Het
Stxbp4	A	G	11: 90,426,249 (GRCm39)	S520P	unknown	Het
Taar8b	C	T	10: 23,967,205 (GRCm39)	E330K	probably benign	Het
Tdpoz6	A	G	3: 93,599,742 (GRCm39)	F209S	probably damaging	Het
Tex14	T	A	11: 87,365,239 (GRCm39)	V61D		Het
Tg	T	C	15: 66,555,522 (GRCm39)	F738S	probably damaging	Het
Trpc4	T	C	3: 54,102,254 (GRCm39)	S51P	possibly damaging	Het
Ttn	T	C	2: 76,626,231 (GRCm39)	S14975G	probably benign	Het
Usp15	C	T	10: 122,961,498 (GRCm39)	G685R	possibly damaging	Het
Usp17lc	C	T	7: 103,067,539 (GRCm39)	P278L	possibly damaging	Het
Wasf1	T	C	10: 40,810,571 (GRCm39)	V271A	possibly damaging	Het
Zbtb46	C	T	2: 181,065,935 (GRCm39)	V72I	possibly damaging	Het
Zfp462	A	G	4: 55,007,563 (GRCm39)	M1V	probably null	Het
Zfp648	T	C	1: 154,080,914 (GRCm39)	F358L	probably 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
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'- CTGGTGTGAATAGCAATGTGC -3'
(R):5'- ACTCATGGCTGGGTGGATTC -3'

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

Posted On

2021-10-11