Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Pcmt1'

558065

Institutional Source

Beutler Lab

Gene Symbol

Pcmt1

Ensembl Gene

ENSMUSG00000019795

Gene Name

protein-L-isoaspartate (D-aspartate) O-methyltransferase 1

Synonyms

protein carboxyl methyltransferase, PIMT

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7505137-7556900 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7513946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 241 (V241D)

Ref Sequence

ENSEMBL: ENSMUSP00000123866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159917] [ENSMUST00000161123] [ENSMUST00000162606] [ENSMUST00000163085]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000159917
AA Change: V241D

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

SMART Domains

Protein: ENSMUSP00000124932
Gene: ENSMUSG00000019795
AA Change: V241D

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:PCMT	66	279	1.1e-88	PFAM
Pfam:Ubie_methyltran	126	258	3.4e-7	PFAM
Pfam:Methyltransf_31	134	284	1.1e-8	PFAM
Pfam:Methyltransf_18	136	241	3e-9	PFAM
Pfam:Methyltransf_11	141	239	1.5e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161123

SMART Domains

Protein: ENSMUSP00000124100
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:PCMT	53	108	4.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161428

SMART Domains

Protein: ENSMUSP00000123758
Gene: ENSMUSG00000019795

Domain	Start	End	E-Value	Type
Pfam:PCMT	1	160	2.7e-61	PFAM
Pfam:Ubie_methyltran	49	148	8.3e-7	PFAM
Pfam:Methyltransf_31	58	111	3.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162606
AA Change: V241D

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

SMART Domains

Protein: ENSMUSP00000123866
Gene: ENSMUSG00000019795
AA Change: V241D

Domain	Start	End	E-Value	Type
low complexity region	7	25	N/A	INTRINSIC
Pfam:PCMT	66	279	2e-88	PFAM
Pfam:Ubie_methyltran	126	259	1e-6	PFAM
Pfam:Methyltransf_31	134	283	3.5e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163085
AA Change: V227D

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

SMART Domains

Protein: ENSMUSP00000125144
Gene: ENSMUSG00000019795
AA Change: V227D

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:PCMT	52	265	9.1e-89	PFAM
Pfam:Ubie_methyltran	112	244	3.1e-7	PFAM
Pfam:Methyltransf_31	120	270	9.8e-9	PFAM
Pfam:Methyltransf_18	122	227	2.7e-9	PFAM
Pfam:Methyltransf_11	127	225	1.4e-6	PFAM

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene causes accumulation of modified proteins, growth retardation and fatal epileptic seizures. Homozygotes for one null allele also show a small spleen, altered lipid, hormone, mineral and enzyme profiles, kyphosis, enlarged brain and abnormal dendritic arborizations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	probably damaging	Het

Other mutations in Pcmt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02934:Pcmt1	APN	10	7,516,491 (GRCm39)	missense	probably benign	0.00
R1968:Pcmt1	UTSW	10	7,516,474 (GRCm39)	nonsense	probably null
R3889:Pcmt1	UTSW	10	7,524,814 (GRCm39)	critical splice donor site	probably null
R5454:Pcmt1	UTSW	10	7,516,509 (GRCm39)	missense	probably damaging	1.00
R5630:Pcmt1	UTSW	10	7,524,857 (GRCm39)	missense	probably damaging	1.00
R5705:Pcmt1	UTSW	10	7,513,954 (GRCm39)	missense	possibly damaging	0.86
R6667:Pcmt1	UTSW	10	7,538,913 (GRCm39)	missense	probably damaging	1.00
R7163:Pcmt1	UTSW	10	7,513,922 (GRCm39)	missense	probably benign	0.01
R7531:Pcmt1	UTSW	10	7,556,369 (GRCm39)	splice site	probably null
R8012:Pcmt1	UTSW	10	7,516,527 (GRCm39)	missense	probably benign	0.26
R8435:Pcmt1	UTSW	10	7,515,825 (GRCm39)	missense	possibly damaging	0.94
R9134:Pcmt1	UTSW	10	7,520,207 (GRCm39)	splice site	probably benign
R9140:Pcmt1	UTSW	10	7,514,678 (GRCm39)	makesense	probably null
R9595:Pcmt1	UTSW	10	7,524,817 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GCTAAGGTCTTAAAGCCCACAG -3'
(R):5'- TGAAATGAACCCCTGAGGACG -3'

Sequencing Primer
(F):5'- CCTTTCACCTTGACTGTGTGGAG -3'
(R):5'- CCTGAGGACGCTAAGATGTTC -3'

Posted On

2019-06-26