Mutagenetix > Incidental Mutation

Incidental Mutation 'R8335:Pm20d2'

644571

Institutional Source

Beutler Lab

Gene Symbol

Pm20d2

Ensembl Gene

ENSMUSG00000054659

Gene Name

peptidase M20 domain containing 2

Synonyms

LOC242377, Acy1l2

MMRRC Submission

067863-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

R8335 (G1)

Quality Score

132.008

Status

Not validated

Chromosome

Chromosomal Location

33174230-33189737 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33189245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 46 (S46G)

Ref Sequence

ENSEMBL: ENSMUSP00000113669 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098181] [ENSMUST00000119167]

AlphaFold

A3KG59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098181
AA Change: S46G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095783
Gene: ENSMUSG00000054659
AA Change: S46G

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
Pfam:M20_dimer	199	297	1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119167
AA Change: S46G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113669
Gene: ENSMUSG00000054659
AA Change: S46G

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
Pfam:M20_dimer	199	297	5.4e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc47	C	G	11: 106,099,084 (GRCm39)	E202D	possibly damaging	Het
Ccdc47	T	C	11: 106,099,085 (GRCm39)	E202G	probably damaging	Het
Depdc1a	C	A	3: 159,228,859 (GRCm39)	P537Q	probably damaging	Het
Dync2h1	A	T	9: 7,084,941 (GRCm39)	M2816K	probably benign	Het
Gatb	T	C	3: 85,481,628 (GRCm39)		probably null	Het
Gm6356	A	G	14: 6,971,838 (GRCm38)	M99T	probably benign	Het
Ighv1-67	A	C	12: 115,567,744 (GRCm39)	V56G	probably damaging	Het
Il27ra	A	T	8: 84,766,130 (GRCm39)	L218Q	probably damaging	Het
Madd	G	A	2: 91,000,584 (GRCm39)	R494C	probably damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mink1	C	T	11: 70,500,401 (GRCm39)	R784W	probably damaging	Het
Mttp	C	T	3: 137,808,973 (GRCm39)	D697N	possibly damaging	Het
Mug2	A	T	6: 122,017,543 (GRCm39)	M427L	probably benign	Het
Or10ag57	A	G	2: 87,218,204 (GRCm39)	I52V	probably benign	Het
Or13l2	T	C	3: 97,318,024 (GRCm39)	N158D	probably benign	Het
Or4a67	G	T	2: 88,598,117 (GRCm39)	P181T	probably damaging	Het
Or8k3b	T	A	2: 86,520,512 (GRCm39)	D269V	probably benign	Het
Paxip1	T	C	5: 27,971,122 (GRCm39)	H409R	unknown	Het
Pkp3	T	C	7: 140,667,669 (GRCm39)	I490T	probably damaging	Het
Plekhg4	G	T	8: 106,102,848 (GRCm39)	V236L	probably damaging	Het
Prss33	A	G	17: 24,053,569 (GRCm39)		probably null	Het
Ptpn3	A	T	4: 57,235,286 (GRCm39)	L358I	probably damaging	Het
Pxdn	A	G	12: 30,052,096 (GRCm39)	T758A	probably damaging	Het
Sall3	G	A	18: 81,012,801 (GRCm39)	R1212C	probably benign	Het
Sox6	G	A	7: 115,300,949 (GRCm39)	L173F	probably damaging	Het
Spata20	T	C	11: 94,373,369 (GRCm39)	K501E	probably benign	Het
Stat2	G	A	10: 128,112,452 (GRCm39)	V31I	possibly damaging	Het
Synpo2	T	A	3: 122,908,183 (GRCm39)	N378Y	probably damaging	Het
Tacr2	A	T	10: 62,100,946 (GRCm39)	H352L	probably benign	Het
Tmem214	A	G	5: 31,029,466 (GRCm39)	K230E	possibly damaging	Het
Tnfsf8	A	G	4: 63,752,352 (GRCm39)	S238P	probably damaging	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Trhde	A	G	10: 114,322,609 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,707,077 (GRCm39)	I661M	probably benign	Het
Vmn1r209	T	A	13: 22,989,977 (GRCm39)	M238L	probably damaging	Het
Vmn2r29	A	G	7: 7,234,445 (GRCm39)	S814P	probably damaging	Het
Vsig10	T	C	5: 117,486,435 (GRCm39)	L448P	probably damaging	Het
Xpo1	T	G	11: 23,230,603 (GRCm39)		probably null	Het
Zfp616	A	T	11: 73,974,726 (GRCm39)	K423*	probably null	Het

Other mutations in Pm20d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Pm20d2	APN	4	33,187,205 (GRCm39)	splice site	probably benign
IGL03184:Pm20d2	APN	4	33,179,241 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Pm20d2	UTSW	4	33,183,152 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Pm20d2	UTSW	4	33,181,715 (GRCm39)	missense	probably damaging	0.99
PIT4791001:Pm20d2	UTSW	4	33,174,756 (GRCm39)	missense	probably benign	0.09
R0594:Pm20d2	UTSW	4	33,181,746 (GRCm39)	missense	probably damaging	0.99
R0973:Pm20d2	UTSW	4	33,174,734 (GRCm39)	splice site	probably benign
R1584:Pm20d2	UTSW	4	33,174,772 (GRCm39)	missense	probably damaging	1.00
R3850:Pm20d2	UTSW	4	33,174,414 (GRCm39)	missense	probably damaging	0.96
R4831:Pm20d2	UTSW	4	33,179,293 (GRCm39)	missense	probably damaging	1.00
R5166:Pm20d2	UTSW	4	33,181,803 (GRCm39)	missense	probably benign
R6025:Pm20d2	UTSW	4	33,181,833 (GRCm39)	missense	probably damaging	0.98
R7030:Pm20d2	UTSW	4	33,174,752 (GRCm39)	missense	possibly damaging	0.65
R7109:Pm20d2	UTSW	4	33,187,186 (GRCm39)	missense	probably damaging	1.00
Z1177:Pm20d2	UTSW	4	33,181,687 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTTCCTCCAGATAGCACACG -3'
(R):5'- TCAGATAAGACAGCCGAGCG -3'

Sequencing Primer
(F):5'- GCAAACTGCAGCTGTCTG -3'
(R):5'- TAAGACAGCCGAGCGCCGCCGAGCCT -3'

Posted On

2020-09-02