Mutagenetix > Incidental Mutation

Incidental Mutation 'R7063:Pcmtd2'

548381

Institutional Source

Beutler Lab

Gene Symbol

Pcmtd2

Ensembl Gene

ENSMUSG00000027589

Gene Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2

Synonyms

5330414D10Rik

MMRRC Submission

045159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R7063 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181479647-181499254 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 181496776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 130 (Y130*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754]

AlphaFold

Q8BHD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000029116
AA Change: I251N

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

SMART Domains

Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: I251N

Domain	Start	End	E-Value	Type
Pfam:PCMT	9	224	1e-28	PFAM
low complexity region	277	284	N/A	INTRINSIC
low complexity region	310	322	N/A	INTRINSIC
low complexity region	341	356	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000108754
AA Change: Y252*

SMART Domains

Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
AA Change: Y252*

Domain	Start	End	E-Value	Type
Pfam:PCMT	9	215	2.1e-28	PFAM
Pfam:DOT1	58	158	1.5e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124346
AA Change: Y130*

SMART Domains

Protein: ENSMUSP00000115743
Gene: ENSMUSG00000027589
AA Change: Y130*

Domain	Start	End	E-Value	Type
Pfam:PCMT	8	103	4.5e-7	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Btbd6	A	G	12: 112,941,132 (GRCm39)	Y148C	probably damaging	Het
Casr	T	C	16: 36,314,936 (GRCm39)	I968V	probably benign	Het
Celf1	T	C	2: 90,843,189 (GRCm39)		probably null	Het
Chst2	G	T	9: 95,287,621 (GRCm39)	R242S	probably benign	Het
Clca3a1	T	A	3: 144,460,967 (GRCm39)	D228V	probably damaging	Het
Cwf19l2	A	G	9: 3,430,532 (GRCm39)	Y288C	probably benign	Het
Cyp2r1	A	G	7: 114,152,184 (GRCm39)	S49P	probably damaging	Het
Dnah5	A	G	15: 28,233,394 (GRCm39)	E251G	probably benign	Het
Eepd1	A	G	9: 25,394,332 (GRCm39)	R199G	possibly damaging	Het
Fat1	C	T	8: 45,493,812 (GRCm39)	T3986I	probably benign	Het
Gbp4	G	A	5: 105,266,314 (GRCm39)	R576C	probably damaging	Het
Glp1r	A	G	17: 31,144,532 (GRCm39)	Y235C	probably damaging	Het
Gm6408	T	C	5: 146,420,594 (GRCm39)	I158T	probably benign	Het
Gpr89	C	G	3: 96,783,014 (GRCm39)	R312P	probably damaging	Het
Idh2	A	G	7: 79,745,432 (GRCm39)	V403A	probably damaging	Het
Lclat1	A	G	17: 73,546,986 (GRCm39)	E301G	possibly damaging	Het
Lgmn	A	G	12: 102,368,937 (GRCm39)	Y181H	probably damaging	Het
Lgr5	T	C	10: 115,292,639 (GRCm39)	Y417C	probably damaging	Het
Man1a	G	T	10: 53,906,840 (GRCm39)	N311K	probably damaging	Het
Nat10	G	A	2: 103,578,422 (GRCm39)	L228F	probably benign	Het
Or10d3	T	G	9: 39,461,411 (GRCm39)	Y252S	possibly damaging	Het
Or10v5	A	G	19: 11,805,548 (GRCm39)	F281L	probably damaging	Het
Or5b12b	A	G	19: 12,861,449 (GRCm39)	D68G	probably damaging	Het
Or5p55	C	A	7: 107,567,411 (GRCm39)	A269E	probably benign	Het
Potefam3f	G	A	8: 20,479,013 (GRCm39)	C7Y		Het
Qrfprl	A	G	6: 65,418,387 (GRCm39)		probably benign	Het
Rapgef5	A	G	12: 117,652,864 (GRCm39)	D62G	possibly damaging	Het
Serpina3m	A	T	12: 104,357,726 (GRCm39)	I217L	probably benign	Het
Supt16	T	C	14: 52,409,505 (GRCm39)	R802G	possibly damaging	Het
Sypl2	A	T	3: 108,124,971 (GRCm39)	M130K	probably benign	Het
Tmtc2	A	T	10: 105,184,386 (GRCm39)	L503Q	probably damaging	Het
Ubald2	A	G	11: 116,325,443 (GRCm39)	Q60R	probably benign	Het
Vav1	C	T	17: 57,618,860 (GRCm39)	Q673*	probably null	Het
Vgll2	T	C	10: 51,904,072 (GRCm39)	S312P	probably benign	Het
Vmn1r191	C	T	13: 22,362,864 (GRCm39)	A297T	probably benign	Het
Vmn1r7	T	A	6: 57,001,418 (GRCm39)	I281F	possibly damaging	Het
Vmn2r108	T	C	17: 20,701,410 (GRCm39)	Y30C	probably damaging	Het
Vmn2r16	A	G	5: 109,511,650 (GRCm39)	N619S	probably damaging	Het
Vstm5	A	G	9: 15,150,549 (GRCm39)		probably benign	Het
Zfp7	A	G	15: 76,775,919 (GRCm39)	I654V	possibly damaging	Het
Zmat2	A	G	18: 36,929,627 (GRCm39)	N129S	probably null	Het

Other mutations in Pcmtd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2377:Pcmtd2	UTSW	2	181,497,072 (GRCm39)	utr 3 prime	probably benign
R3110:Pcmtd2	UTSW	2	181,496,922 (GRCm39)	missense	probably damaging	0.98
R3111:Pcmtd2	UTSW	2	181,496,922 (GRCm39)	missense	probably damaging	0.98
R3112:Pcmtd2	UTSW	2	181,496,922 (GRCm39)	missense	probably damaging	0.98
R4571:Pcmtd2	UTSW	2	181,484,217 (GRCm39)	missense	possibly damaging	0.65
R5108:Pcmtd2	UTSW	2	181,486,216 (GRCm39)	missense	probably damaging	1.00
R5137:Pcmtd2	UTSW	2	181,496,787 (GRCm39)	missense	possibly damaging	0.87
R5778:Pcmtd2	UTSW	2	181,496,991 (GRCm39)	missense	probably benign	0.00
R5861:Pcmtd2	UTSW	2	181,484,268 (GRCm39)	missense	probably damaging	0.96
R6841:Pcmtd2	UTSW	2	181,486,231 (GRCm39)	missense	probably damaging	0.99
R7407:Pcmtd2	UTSW	2	181,488,398 (GRCm39)	missense	possibly damaging	0.83
R7706:Pcmtd2	UTSW	2	181,496,868 (GRCm39)	missense	probably damaging	1.00
R7747:Pcmtd2	UTSW	2	181,493,452 (GRCm39)	missense	possibly damaging	0.91
R7769:Pcmtd2	UTSW	2	181,493,494 (GRCm39)	missense	probably benign	0.00
R7896:Pcmtd2	UTSW	2	181,496,776 (GRCm39)	missense	probably damaging	1.00
R8939:Pcmtd2	UTSW	2	181,496,863 (GRCm39)	utr 3 prime	probably benign
R9433:Pcmtd2	UTSW	2	181,496,837 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- CACGTGTGGTGCAAAGTAGAC -3'
(R):5'- TGGTCTCCTGTAAGGTCCTC -3'

Sequencing Primer
(F):5'- GTGCAAAGTAGACCATTGGTTCC -3'
(R):5'- CTGCATCCTCACAGCTGG -3'

Posted On

2019-05-13