Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Pgm2l1'

638310

Institutional Source

Beutler Lab

Gene Symbol

Pgm2l1

Ensembl Gene

ENSMUSG00000030729

Gene Name

phosphoglucomutase 2-like 1

Synonyms

4931406N15Rik, BM32A

MMRRC Submission

067706-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99876601-99928075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 99902460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 136 (A136G)

Ref Sequence

ENSEMBL: ENSMUSP00000081998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054436] [ENSMUST00000084935] [ENSMUST00000162108]

AlphaFold

Q8CAA7

Predicted Effect

probably benign
Transcript: ENSMUST00000054436
AA Change: A136G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729
AA Change: A136G

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	64	212	2.5e-36	PFAM
Pfam:PGM_PMM_II	237	347	2e-25	PFAM
Pfam:PGM_PMM_III	353	481	5.4e-15	PFAM
Pfam:PGM_PMM_IV	524	604	5.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084935
AA Change: A136G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729
AA Change: A136G

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	64	212	4e-36	PFAM
Pfam:PGM_PMM_II	237	347	2.4e-26	PFAM
Pfam:PGM_PMM_III	353	481	8e-16	PFAM
Pfam:PGM_PMM_IV	526	601	8.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162108
AA Change: A136G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729
AA Change: A136G

Domain	Start	End	E-Value	Type
Pfam:PGM_PMM_I	64	212	4e-37	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,502,160 (GRCm39)	A238V	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Ccr9	A	G	9: 123,608,696 (GRCm39)	Y126C	probably damaging	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Cts6	T	C	13: 61,349,457 (GRCm39)	T84A	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Fnbp4	C	A	2: 90,577,115 (GRCm39)	T149K	probably damaging	Het
Foxj1	A	T	11: 116,224,893 (GRCm39)	F158Y	probably benign	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Ice1	T	C	13: 70,752,549 (GRCm39)	E1179G	probably damaging	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	possibly damaging	Het

Other mutations in Pgm2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Pgm2l1	APN	7	99,904,826 (GRCm39)	critical splice donor site	probably null
R0044:Pgm2l1	UTSW	7	99,899,539 (GRCm39)	missense	probably benign	0.01
R0044:Pgm2l1	UTSW	7	99,899,539 (GRCm39)	missense	probably benign	0.01
R0106:Pgm2l1	UTSW	7	99,899,580 (GRCm39)	missense	probably benign	0.07
R0106:Pgm2l1	UTSW	7	99,899,580 (GRCm39)	missense	probably benign	0.07
R0394:Pgm2l1	UTSW	7	99,901,405 (GRCm39)	missense	probably damaging	1.00
R1518:Pgm2l1	UTSW	7	99,910,932 (GRCm39)	missense	probably benign	0.00
R2184:Pgm2l1	UTSW	7	99,917,362 (GRCm39)	missense	possibly damaging	0.82
R2207:Pgm2l1	UTSW	7	99,917,319 (GRCm39)	splice site	probably null
R2344:Pgm2l1	UTSW	7	99,909,115 (GRCm39)	missense	probably damaging	0.99
R3804:Pgm2l1	UTSW	7	99,901,474 (GRCm39)	missense	probably benign	0.00
R4292:Pgm2l1	UTSW	7	99,899,508 (GRCm39)	missense	probably damaging	1.00
R4789:Pgm2l1	UTSW	7	99,916,794 (GRCm39)	missense	probably benign
R4872:Pgm2l1	UTSW	7	99,877,204 (GRCm39)	missense	probably damaging	1.00
R5001:Pgm2l1	UTSW	7	99,921,583 (GRCm39)	missense	probably benign	0.00
R5081:Pgm2l1	UTSW	7	99,917,472 (GRCm39)	missense	probably benign
R5181:Pgm2l1	UTSW	7	99,910,965 (GRCm39)	missense	probably benign	0.01
R5417:Pgm2l1	UTSW	7	99,921,583 (GRCm39)	missense	probably benign	0.00
R5500:Pgm2l1	UTSW	7	99,917,340 (GRCm39)	missense	probably benign	0.00
R6057:Pgm2l1	UTSW	7	99,915,881 (GRCm39)	missense	probably benign	0.33
R6414:Pgm2l1	UTSW	7	99,904,747 (GRCm39)	missense	possibly damaging	0.88
R7356:Pgm2l1	UTSW	7	99,917,326 (GRCm39)	missense	possibly damaging	0.94
R7658:Pgm2l1	UTSW	7	99,899,535 (GRCm39)	missense	probably damaging	0.98
R7967:Pgm2l1	UTSW	7	99,910,854 (GRCm39)	missense	probably damaging	1.00
R8031:Pgm2l1	UTSW	7	99,921,625 (GRCm39)	missense	probably damaging	1.00
R8432:Pgm2l1	UTSW	7	99,909,260 (GRCm39)	missense	possibly damaging	0.48
R9289:Pgm2l1	UTSW	7	99,919,629 (GRCm39)	missense	probably damaging	1.00
Z1176:Pgm2l1	UTSW	7	99,919,662 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GTTTCAAGTTGGAACGTCAAGC -3'
(R):5'- GCTGGTCAACTTACATAGACGAAG -3'

Sequencing Primer
(F):5'- TTGTGAGTCTGAGACAAACCTAAG -3'
(R):5'- CTTACATAGACGAAGCTCAAAGC -3'

Posted On

2020-07-28