Mutagenetix > Incidental Mutation

Incidental Mutation 'R7407:Pcmtd2'

574776

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

045488-MU

Accession Numbers

Essential gene?

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

Stock #

R7407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181479647-181499254 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181488398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

Ref Sequence

ENSEMBL: ENSMUSP00000029116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029116] [ENSMUST00000108754] [ENSMUST00000139434]

AlphaFold

Q8BHD8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029116
AA Change: V183A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029116
Gene: ENSMUSG00000027589
AA Change: V183A

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 damaging
Transcript: ENSMUST00000108754
AA Change: V183A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104385
Gene: ENSMUSG00000027589
AA Change: V183A

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115743
Gene: ENSMUSG00000027589
AA Change: V61A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139434
AA Change: V183A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115096
Gene: ENSMUSG00000027589
AA Change: V183A

Domain	Start	End	E-Value	Type
Pfam:PCMT	9	185	2e-24	PFAM
Pfam:DOT1	58	158	4e-8	PFAM

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	A	G	7: 50,249,626 (GRCm39)	N220S	probably damaging	Het
Abcb8	T	C	5: 24,605,674 (GRCm39)	V186A	probably benign	Het
Actbl2	A	T	13: 111,392,752 (GRCm39)	E362D	probably damaging	Het
Adamts17	C	A	7: 66,697,304 (GRCm39)	Y28*	probably null	Het
Agtr1b	T	C	3: 20,369,895 (GRCm39)	D237G	possibly damaging	Het
Amer2	A	G	14: 60,616,291 (GRCm39)	D162G	probably damaging	Het
Ankub1	T	C	3: 57,572,624 (GRCm39)	E366G	probably benign	Het
Ap5z1	A	G	5: 142,452,330 (GRCm39)	I88V	probably benign	Het
Ccdc186	T	C	19: 56,801,817 (GRCm39)	N100S	probably benign	Het
Cldn19	A	G	4: 119,112,882 (GRCm39)	D38G	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Deaf1	G	A	7: 140,877,492 (GRCm39)	A545V	possibly damaging	Het
Dicer1	G	T	12: 104,688,610 (GRCm39)	Y322*	probably null	Het
Dnajb7	G	T	15: 81,291,827 (GRCm39)	T170K	possibly damaging	Het
Flrt2	A	T	12: 95,746,074 (GRCm39)	E137D	probably damaging	Het
Galnt12	T	C	4: 47,120,362 (GRCm39)	F482L	probably damaging	Het
Gm32742	A	G	9: 51,067,974 (GRCm39)	V336A	probably damaging	Het
Gpatch8	G	A	11: 102,370,656 (GRCm39)	R961W	unknown	Het
Hcn4	A	G	9: 58,766,653 (GRCm39)	E738G	unknown	Het
Kdelr3	A	G	15: 79,409,039 (GRCm39)	Y76C	probably damaging	Het
Krt77	T	C	15: 101,768,530 (GRCm39)	S494G	unknown	Het
Letmd1	G	T	15: 100,367,119 (GRCm39)	A39S	probably benign	Het
Lrrc7	G	A	3: 157,840,878 (GRCm39)	R1387W	probably damaging	Het
Meltf	T	C	16: 31,713,553 (GRCm39)	Y599H	probably damaging	Het
Mybpc1	T	A	10: 88,385,209 (GRCm39)	I477L	probably damaging	Het
Nf1	A	G	11: 79,338,969 (GRCm39)	D1174G	probably damaging	Het
Or2t6	T	A	14: 14,175,402 (GRCm38)	I227L	probably benign	Het
Or8b44	T	A	9: 38,410,800 (GRCm39)	Y278*	probably null	Het
Palld	G	T	8: 61,968,975 (GRCm39)	S1283*	probably null	Het
Pcsk5	T	A	19: 17,652,880 (GRCm39)	I269F	probably damaging	Het
Pkd1	T	C	17: 24,813,568 (GRCm39)	L4036P	probably damaging	Het
Pkhd1l1	A	G	15: 44,458,407 (GRCm39)	N4151S	possibly damaging	Het
Rcor3	C	T	1: 191,785,972 (GRCm39)	S422N	probably benign	Het
Rhag	A	G	17: 41,142,225 (GRCm39)	I223V	possibly damaging	Het
Ssbp4	A	G	8: 71,051,672 (GRCm39)	Y231H	probably damaging	Het
Syce1l	C	T	8: 114,381,770 (GRCm39)	Q237*	probably null	Het
Tenm4	T	C	7: 96,423,194 (GRCm39)	V663A	possibly damaging	Het
Timd6	A	G	11: 46,468,217 (GRCm39)	Y97C	probably damaging	Het
Trim6	T	C	7: 103,875,108 (GRCm39)	I115T	probably damaging	Het
Vinac1	A	G	2: 128,880,729 (GRCm39)	I399T		Het
Vmn1r25	T	A	6: 57,956,044 (GRCm39)	T82S	possibly damaging	Het
Vmn2r28	A	G	7: 5,484,308 (GRCm39)	S631P	probably damaging	Het
Xpo1	T	A	11: 23,235,823 (GRCm39)	V637E	probably damaging	Het
Xpo6	A	T	7: 125,770,224 (GRCm39)	M62K	probably damaging	Het
Ypel5	A	G	17: 73,153,374 (GRCm39)	N26S	possibly damaging	Het
Zbtb24	C	A	10: 41,340,775 (GRCm39)	Q624K	possibly damaging	Het
Zfp629	T	C	7: 127,209,415 (GRCm39)	D798G	probably benign	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	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
R7063:Pcmtd2	UTSW	2	181,496,776 (GRCm39)	nonsense	probably null
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'- TTGTTCCCAACATGGCAGG -3'
(R):5'- CAACATAGTGCAGTTTATGGAAGAC -3'

Sequencing Primer
(F):5'- CAACATGGCAGGCATAACTTTG -3'
(R):5'- TGGAAGACCTCTATATAGCTTTGTG -3'

Posted On

2019-10-07