Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R8031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100227394-100278868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100272418 bp (GRCm38)

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: 105,998,098		probably null	Het
Arhgdib	A	G	6: 136,924,276	Y152H	probably benign	Het
Atxn10	T	G	15: 85,393,393	S354A	probably benign	Het
Cacng6	T	C	7: 3,424,885	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,651,688	V7A	unknown	Het
Cdc40	T	A	10: 40,852,516	E157D	probably benign	Het
Defa25	T	A	8: 21,085,237	N77K	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Efcab6	T	C	15: 83,983,498	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,288,905	Y352C	probably damaging	Het
Erc2	A	T	14: 28,011,692	K566N	probably damaging	Het
Fam3b	A	C	16: 97,481,852	Y74*	probably null	Het
Flg2	T	A	3: 93,220,214	S2144R	unknown	Het
Fmo4	G	T	1: 162,798,852	S375*	probably null	Het
Fsip2	A	G	2: 82,986,891	T4323A	probably benign	Het
Gm11639	T	C	11: 104,881,469	V2659A	possibly damaging	Het
Gm16503	A	T	4: 147,541,310	H87L	unknown	Het
Hes7	C	T	11: 69,122,765	A150V	probably damaging	Het
Hk1	T	A	10: 62,296,699	N190I	probably benign	Het
Il17rc	A	G	6: 113,482,821	D576G	probably damaging	Het
Inhba	T	A	13: 16,026,275	S141T	possibly damaging	Het
Itga8	G	T	2: 12,155,486	D840E	probably benign	Het
Kazn	T	C	4: 142,154,551	E126G		Het
Kcnk13	A	G	12: 99,966,179	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,908,042		probably benign	Het
Krt42	G	C	11: 100,265,039	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,780,091	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,216,921	R585G	probably benign	Het
Ntrk2	T	C	13: 58,874,379	I416T	probably benign	Het
Olfr1080	G	A	2: 86,554,103	T7I	probably damaging	Het
Olfr1217	A	T	2: 89,023,628	I125N	probably damaging	Het
Olfr177	T	C	16: 58,872,691	N153S	probably benign	Het
Olfr652	T	A	7: 104,565,109	I296N	probably damaging	Het
P4ha3	A	G	7: 100,292,698	E106G	probably damaging	Het
Pcif1	A	G	2: 164,886,522	N233S	probably damaging	Het
Pkhd1l1	A	G	15: 44,512,834	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,901,213	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,174,088	A306T	probably benign	Het
Psmd4	T	C	3: 95,035,892	D67G	probably damaging	Het
Ptprt	G	A	2: 162,135,457	T307I	probably damaging	Het
Rnf213	C	A	11: 119,430,281	C1188*	probably null	Het
Ror2	C	T	13: 53,113,157	C426Y	probably damaging	Het
Sacs	C	T	14: 61,204,191	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,421,505	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,350,603	A340T	probably benign	Het
Smarca5	A	T	8: 80,704,682	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,326,489	M626I	probably benign	Het
Spink5	T	A	18: 44,010,236	D753E	probably benign	Het
Taf1d	T	G	9: 15,310,399	I226S	probably damaging	Het
Tmem225	A	G	9: 40,149,393	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,501,419	K303E	probably damaging	Het
Ube2n	C	T	10: 95,541,382	R70C	probably benign	Het
Ubl7	C	T	9: 57,923,206	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,637,181	M191K	probably damaging	Het
Vmn2r103	C	T	17: 19,793,497	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,042,786	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,986,481	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,954,867	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,330,630	I1121N	not run	Het
Zfp235	T	A	7: 24,141,689	V511E	probably benign	Het

Other mutations in Pgm2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Pgm2l1	APN	7	100255619	critical splice donor site	probably null
R0044:Pgm2l1	UTSW	7	100250332	missense	probably benign	0.01
R0044:Pgm2l1	UTSW	7	100250332	missense	probably benign	0.01
R0106:Pgm2l1	UTSW	7	100250373	missense	probably benign	0.07
R0106:Pgm2l1	UTSW	7	100250373	missense	probably benign	0.07
R0394:Pgm2l1	UTSW	7	100252198	missense	probably damaging	1.00
R1518:Pgm2l1	UTSW	7	100261725	missense	probably benign	0.00
R2184:Pgm2l1	UTSW	7	100268155	missense	possibly damaging	0.82
R2207:Pgm2l1	UTSW	7	100268112	splice site	probably null
R2344:Pgm2l1	UTSW	7	100259908	missense	probably damaging	0.99
R3804:Pgm2l1	UTSW	7	100252267	missense	probably benign	0.00
R4292:Pgm2l1	UTSW	7	100250301	missense	probably damaging	1.00
R4789:Pgm2l1	UTSW	7	100267587	missense	probably benign
R4872:Pgm2l1	UTSW	7	100227997	missense	probably damaging	1.00
R5001:Pgm2l1	UTSW	7	100272376	missense	probably benign	0.00
R5081:Pgm2l1	UTSW	7	100268265	missense	probably benign
R5181:Pgm2l1	UTSW	7	100261758	missense	probably benign	0.01
R5417:Pgm2l1	UTSW	7	100272376	missense	probably benign	0.00
R5500:Pgm2l1	UTSW	7	100268133	missense	probably benign	0.00
R6057:Pgm2l1	UTSW	7	100266674	missense	probably benign	0.33
R6414:Pgm2l1	UTSW	7	100255540	missense	possibly damaging	0.88
R7356:Pgm2l1	UTSW	7	100268119	missense	possibly damaging	0.94
R7658:Pgm2l1	UTSW	7	100250328	missense	probably damaging	0.98
R7967:Pgm2l1	UTSW	7	100261647	missense	probably damaging	1.00
R8283:Pgm2l1	UTSW	7	100253253	missense	probably benign	0.26
R8432:Pgm2l1	UTSW	7	100260053	missense	possibly damaging	0.48
R9289:Pgm2l1	UTSW	7	100270422	missense	probably damaging	1.00
Z1176:Pgm2l1	UTSW	7	100270455	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