Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Pgm2l1'

617950

Institutional Source

Beutler Lab

Gene Symbol

Pgm2l1

Ensembl Gene

ENSMUSG00000030729

Gene Name

phosphoglucomutase 2-like 1

Synonyms

4931406N15Rik, BM32A

MMRRC Submission

067469-MU

Accession Numbers

Essential gene?

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

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99876601-99928075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99921625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 619 (R619S)

Ref Sequence

ENSEMBL: ENSMUSP00000081998 (fasta)

Gene Model

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

AlphaFold

Q8CAA7

Predicted Effect

probably damaging
Transcript: ENSMUST00000054436
AA Change: R619S

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

SMART Domains

Protein: ENSMUSP00000054782
Gene: ENSMUSG00000030729
AA Change: R619S

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 damaging
Transcript: ENSMUST00000084935
AA Change: R619S

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

SMART Domains

Protein: ENSMUSP00000081998
Gene: ENSMUSG00000030729
AA Change: R619S

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

SMART Domains

Protein: ENSMUSP00000124851
Gene: ENSMUSG00000030729

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

Coding Region Coverage

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

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,888,924 (GRCm39)		probably null	Het
Arhgdib	A	G	6: 136,901,274 (GRCm39)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,277,594 (GRCm39)	S354A	probably benign	Het
Cacng6	T	C	7: 3,473,401 (GRCm39)	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,784,741 (GRCm39)	V7A	unknown	Het
Cdc40	T	A	10: 40,728,512 (GRCm39)	E157D	probably benign	Het
Defa25	T	A	8: 21,575,253 (GRCm39)	N77K	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	T	C	11: 104,772,295 (GRCm39)	V2659A	possibly damaging	Het
Efcab6	T	C	15: 83,867,699 (GRCm39)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,179,731 (GRCm39)	Y352C	probably damaging	Het
Erc2	A	T	14: 27,733,649 (GRCm39)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,283,052 (GRCm39)	Y74*	probably null	Het
Flg2	T	A	3: 93,127,521 (GRCm39)	S2144R	unknown	Het
Fmo4	G	T	1: 162,626,421 (GRCm39)	S375*	probably null	Het
Fsip2	A	G	2: 82,817,235 (GRCm39)	T4323A	probably benign	Het
Gm16503	A	T	4: 147,625,767 (GRCm39)	H87L	unknown	Het
Hes7	C	T	11: 69,013,591 (GRCm39)	A150V	probably damaging	Het
Hk1	T	A	10: 62,132,478 (GRCm39)	N190I	probably benign	Het
Il17rc	A	G	6: 113,459,782 (GRCm39)	D576G	probably damaging	Het
Inhba	T	A	13: 16,200,860 (GRCm39)	S141T	possibly damaging	Het
Itga8	G	T	2: 12,160,297 (GRCm39)	D840E	probably benign	Het
Kazn	T	C	4: 141,881,862 (GRCm39)	E126G		Het
Kcnk13	A	G	12: 99,932,438 (GRCm39)	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,798,054 (GRCm39)		probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,687,374 (GRCm39)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,107,747 (GRCm39)	R585G	probably benign	Het
Ntrk2	T	C	13: 59,022,193 (GRCm39)	I416T	probably benign	Het
Or4c112	A	T	2: 88,853,972 (GRCm39)	I125N	probably damaging	Het
Or52h7	T	A	7: 104,214,316 (GRCm39)	I296N	probably damaging	Het
Or5k14	T	C	16: 58,693,054 (GRCm39)	N153S	probably benign	Het
Or8k33	G	A	2: 86,384,447 (GRCm39)	T7I	probably damaging	Het
P4ha3	A	G	7: 99,941,905 (GRCm39)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,728,442 (GRCm39)	N233S	probably damaging	Het
Pkhd1l1	A	G	15: 44,376,230 (GRCm39)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,776,964 (GRCm39)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Psmd4	T	C	3: 94,943,203 (GRCm39)	D67G	probably damaging	Het
Ptprt	G	A	2: 161,977,377 (GRCm39)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,321,107 (GRCm39)	C1188*	probably null	Het
Ror2	C	T	13: 53,267,193 (GRCm39)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,441,640 (GRCm39)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,311,517 (GRCm39)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,397,377 (GRCm39)	A340T	probably benign	Het
Smarca5	A	T	8: 81,431,311 (GRCm39)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,314,933 (GRCm39)	M626I	probably benign	Het
Spink5	T	A	18: 44,143,303 (GRCm39)	D753E	probably benign	Het
Taf1d	T	G	9: 15,221,695 (GRCm39)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,060,689 (GRCm39)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,429,141 (GRCm39)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,377,244 (GRCm39)	R70C	probably benign	Het
Ubl7	C	T	9: 57,830,489 (GRCm39)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,614,165 (GRCm39)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 20,013,759 (GRCm39)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,720,408 (GRCm39)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,604,075 (GRCm39)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,568,070 (GRCm39)	I1121N	not run	Het
Zfp235	T	A	7: 23,841,114 (GRCm39)	V511E	probably benign	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
R8283:Pgm2l1	UTSW	7	99,902,460 (GRCm39)	missense	probably benign	0.26
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'- TGTGCCTTCCTTAAAAGTGGAAATG -3'
(R):5'- GCCACTGGAACACTTTCATTG -3'

Sequencing Primer
(F):5'- ACACTACCTTCCTGGAAG -3'
(R):5'- GCCACTGGAACACTTTCATTGTAATG -3'

Posted On

2020-01-23