Mutagenetix > Incidental Mutation

Incidental Mutation 'R3873:Pgam5'

276665

Institutional Source

Beutler Lab

Gene Symbol

Pgam5

Ensembl Gene

ENSMUSG00000029500

Gene Name

phosphoglycerate mutase family member 5

Synonyms

2610528A17Rik

MMRRC Submission

040791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110407001-110417765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110413465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 210 (Y210C)

Ref Sequence

ENSEMBL: ENSMUSP00000108124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059229] [ENSMUST00000112505] [ENSMUST00000196381]

AlphaFold

Q8BX10

Predicted Effect

probably damaging
Transcript: ENSMUST00000059229
AA Change: Y209C

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

SMART Domains

Protein: ENSMUSP00000057760
Gene: ENSMUSG00000029500
AA Change: Y209C

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PGAM	98	235	7.26e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112505
AA Change: Y210C

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

SMART Domains

Protein: ENSMUSP00000108124
Gene: ENSMUSG00000029500
AA Change: Y210C

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PGAM	98	236	7.26e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181048

Predicted Effect

probably damaging
Transcript: ENSMUST00000196381
AA Change: Y174C

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

SMART Domains

Protein: ENSMUSP00000143477
Gene: ENSMUSG00000029500
AA Change: Y174C

Domain	Start	End	E-Value	Type
Pfam:His_Phos_1	62	178	6.4e-14	PFAM

Meta Mutation Damage Score

0.8895

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (50/50)

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show Parkinson-like movement, dopaminergic neuron loss, and altered mitochondrial homeostasis. Homozygotes for a different null allele are smaller, with males born at sub-Mendelian ratios. Macrophages show impaired inflammasome activation and IL-1beta secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Acaca	A	G	11: 84,203,547 (GRCm39)		probably benign	Het
Adam5	T	C	8: 25,305,125 (GRCm39)	T110A	probably benign	Het
Agtpbp1	T	C	13: 59,608,410 (GRCm39)	M175V	possibly damaging	Het
Akt1	T	C	12: 112,622,967 (GRCm39)	N367S	probably benign	Het
Ankrd61	T	A	5: 143,828,646 (GRCm39)	T67S	probably damaging	Het
Arl8a	T	C	1: 135,080,610 (GRCm39)		probably null	Het
Arvcf	G	A	16: 18,221,783 (GRCm39)	R736Q	probably damaging	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Cep295	A	T	9: 15,244,661 (GRCm39)	V1265E	probably damaging	Het
Cfap299	A	T	5: 98,885,482 (GRCm39)	I130F	probably damaging	Het
Cyp2c29	A	G	19: 39,317,588 (GRCm39)	D397G	probably damaging	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dst	A	G	1: 34,328,701 (GRCm39)	T4590A	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Fscb	G	T	12: 64,519,906 (GRCm39)	P520Q	unknown	Het
Gli1	T	A	10: 127,167,225 (GRCm39)	N676I	probably damaging	Het
Hspg2	T	C	4: 137,266,660 (GRCm39)	I1916T	probably damaging	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Il7	A	T	3: 7,669,224 (GRCm39)	V4D	probably damaging	Het
Itgae	T	A	11: 73,004,442 (GRCm39)	I243N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl13	T	C	X: 23,151,415 (GRCm39)	D21G	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Ly6g6e	T	C	17: 35,296,159 (GRCm39)	V10A	probably benign	Het
Morc3	G	A	16: 93,659,324 (GRCm39)	V411I	probably damaging	Het
Mrpl32	G	T	13: 14,787,630 (GRCm39)		probably benign	Het
Ncald	G	A	15: 37,397,497 (GRCm39)	A61V	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Or5m10b	T	A	2: 85,699,306 (GRCm39)	Y123*	probably null	Het
Phf5a	T	C	15: 81,754,628 (GRCm39)	N50D	probably benign	Het
Prl7d1	A	G	13: 27,900,651 (GRCm39)	M1T	probably null	Het
Sacs	A	G	14: 61,429,735 (GRCm39)	K595R	possibly damaging	Het
Scyl3	A	G	1: 163,778,206 (GRCm39)	N448S	probably benign	Het
Serpinb9g	A	T	13: 33,670,518 (GRCm39)	D2V	probably benign	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Smg1	T	C	7: 117,753,885 (GRCm39)		probably benign	Het
Taar1	T	C	10: 23,796,482 (GRCm39)	L60P	probably damaging	Het
Tmem51	T	C	4: 141,759,059 (GRCm39)	T230A	probably damaging	Het
Ubr4	T	C	4: 139,151,301 (GRCm39)	V623A	probably damaging	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vipr2	T	C	12: 116,099,724 (GRCm39)		probably benign	Het
Vmn2r16	T	C	5: 109,488,177 (GRCm39)	M350T	probably benign	Het
Vmn2r22	T	C	6: 123,614,339 (GRCm39)	E417G	possibly damaging	Het
Vmn2r9	C	A	5: 108,995,701 (GRCm39)	V316F	probably benign	Het
Zfp53	C	T	17: 21,728,893 (GRCm39)	P309S	probably damaging	Het

Other mutations in Pgam5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Pgam5	APN	5	110,413,391 (GRCm39)	missense	probably damaging	1.00
R0839:Pgam5	UTSW	5	110,414,996 (GRCm39)	missense	probably benign	0.11
R2192:Pgam5	UTSW	5	110,413,785 (GRCm39)	missense	probably damaging	0.99
R2508:Pgam5	UTSW	5	110,413,869 (GRCm39)	missense	probably damaging	1.00
R3772:Pgam5	UTSW	5	110,413,459 (GRCm39)	missense	probably damaging	1.00
R4900:Pgam5	UTSW	5	110,408,301 (GRCm39)	missense	probably damaging	0.99
R4929:Pgam5	UTSW	5	110,413,691 (GRCm39)	missense	probably damaging	1.00
R5195:Pgam5	UTSW	5	110,413,854 (GRCm39)	nonsense	probably null
R5691:Pgam5	UTSW	5	110,414,959 (GRCm39)	missense	probably damaging	0.99
R9193:Pgam5	UTSW	5	110,413,466 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- TGTTATACACTGTCATAGCCAGC -3'
(R):5'- CACAGACTTGCTACGGGAAG -3'

Sequencing Primer
(F):5'- ATACACTGTCATAGCCAGCTTCACTG -3'
(R):5'- ATTGAACCGGATCCACCTGTC -3'

Posted On

2015-04-06