Mutagenetix > Incidental Mutation

Incidental Mutation 'R8813:Pter'

672537

Institutional Source

Beutler Lab

Gene Symbol

Pter

Ensembl Gene

ENSMUSG00000026730

Gene Name

phosphotriesterase related

Synonyms

Mpr56-1

MMRRC Submission

068648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R8813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12928852-13008266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12985114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 148 (V148A)

Ref Sequence

ENSEMBL: ENSMUSP00000117009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028063] [ENSMUST00000114796] [ENSMUST00000134794] [ENSMUST00000154269]

AlphaFold

Q60866

Predicted Effect

probably benign
Transcript: ENSMUST00000028063
AA Change: V148A

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730
AA Change: V148A

Domain	Start	End	E-Value	Type
Pfam:PTE	15	260	1.8e-105	PFAM
Pfam:TatD_DNase	66	252	3.5e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114796
AA Change: V80A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730
AA Change: V80A

Domain	Start	End	E-Value	Type
Pfam:PTE	15	62	1.9e-13	PFAM
Pfam:PTE	52	253	4.6e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134794
AA Change: V148A

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: V148A

Domain	Start	End	E-Value	Type
Pfam:PTE	15	347	1e-153	PFAM
Pfam:TatD_DNase	67	300	1.9e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154269
AA Change: V148A

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730
AA Change: V148A

Domain	Start	End	E-Value	Type
Pfam:PTE	15	181	1e-66	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	T	C	2: 122,482,622 (GRCm39)	L62P	probably damaging	Het
Amotl2	T	G	9: 102,607,291 (GRCm39)	S700A	probably damaging	Het
Ccdc7a	A	G	8: 129,549,942 (GRCm39)	S1259P	possibly damaging	Het
Cenpj	C	T	14: 56,790,355 (GRCm39)	E565K	probably damaging	Het
Clmp	C	T	9: 40,692,549 (GRCm39)	R273*	probably null	Het
Cops7b	A	T	1: 86,528,846 (GRCm39)	Q191L	probably benign	Het
Cyp2c23	A	G	19: 44,002,054 (GRCm39)	F312L	probably benign	Het
Dgkd	G	A	1: 87,843,266 (GRCm39)	C169Y	probably damaging	Het
Dlec1	A	T	9: 118,956,498 (GRCm39)	N724I	probably benign	Het
Dmxl1	T	C	18: 50,090,406 (GRCm39)	V2831A	probably damaging	Het
Dnah5	G	T	15: 28,229,719 (GRCm39)	G118W	probably damaging	Het
Dnah6	G	T	6: 73,104,937 (GRCm39)	T1884K	probably damaging	Het
Dnai4	T	C	4: 102,947,697 (GRCm39)	E193G	possibly damaging	Het
Efnb2	T	A	8: 8,670,731 (GRCm39)	S290C	probably damaging	Het
Eif1ad6	A	G	12: 87,668,593 (GRCm39)	D75G	probably damaging	Het
Eif2ak4	C	A	2: 118,278,806 (GRCm39)	T990K	probably damaging	Het
Erich3	A	G	3: 154,468,827 (GRCm39)	D1093G	unknown	Het
H2-DMa	T	C	17: 34,354,734 (GRCm39)		probably benign	Het
Habp2	G	A	19: 56,295,216 (GRCm39)	D36N	probably benign	Het
Kcnk13	G	T	12: 100,027,647 (GRCm39)	G241W	probably damaging	Het
Kdm6b	GGGTGGTGGTGGTGGTGG	GGGTGGTGGTGGTGGTGGTGG	11: 69,297,655 (GRCm39)		probably benign	Het
Kdm6b	TGG	TGGGGG	11: 69,297,658 (GRCm39)		probably benign	Het
Klk1b5	G	T	7: 43,496,549 (GRCm39)	M160I	probably benign	Het
Lonp2	A	G	8: 87,358,073 (GRCm39)	Y98C	probably damaging	Het
Marcksl1	C	T	4: 129,408,999 (GRCm39)	P193S	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nxf7	G	A	X: 134,484,515 (GRCm39)	R513C	possibly damaging	Het
Or13a19	C	A	7: 139,902,793 (GRCm39)	Y60*	probably null	Het
Or4a73	A	T	2: 89,420,730 (GRCm39)	M243K	probably benign	Het
Or52e5	T	A	7: 104,719,518 (GRCm39)	Y281*	probably null	Het
Or7g32	T	G	9: 19,389,477 (GRCm39)	D23A	possibly damaging	Het
Or7g34	A	T	9: 19,477,895 (GRCm39)	Y262N	probably damaging	Het
Otof	T	A	5: 30,540,242 (GRCm39)	M965L	probably benign	Het
Parp12	A	G	6: 39,073,508 (GRCm39)	F439S	probably damaging	Het
Pde1a	G	A	2: 79,959,261 (GRCm39)		probably benign	Het
Pramel22	T	A	4: 143,380,913 (GRCm39)	N370I	probably damaging	Het
Prrc2c	T	C	1: 162,532,812 (GRCm39)	N1268D	unknown	Het
Rb1	A	G	14: 73,500,027 (GRCm39)	M540T	probably damaging	Het
Rnasel	T	A	1: 153,629,641 (GRCm39)	N52K	probably damaging	Het
Rragd	A	T	4: 33,012,953 (GRCm39)	I317F	possibly damaging	Het
Sla	G	T	15: 66,664,127 (GRCm39)	S81R	probably benign	Het
T	A	G	17: 8,653,532 (GRCm39)	E57G	probably benign	Het
Tanc1	T	A	2: 59,630,265 (GRCm39)	F748L	probably damaging	Het
Tnxb	T	A	17: 34,938,136 (GRCm39)	W3073R	probably damaging	Het
Trim33	A	G	3: 103,254,052 (GRCm39)	T967A	probably benign	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Trpm1	T	A	7: 63,851,756 (GRCm39)	M158K	possibly damaging	Het
Vmn1r205	A	G	13: 22,776,424 (GRCm39)	L226P	probably benign	Het
Vmn1r56	C	T	7: 5,198,733 (GRCm39)	V295M	probably damaging	Het
Vps13c	A	G	9: 67,778,566 (GRCm39)	D208G	probably damaging	Het
Zfp11	T	C	5: 129,735,278 (GRCm39)	D61G	probably benign	Het
Zscan4e	C	A	7: 11,041,540 (GRCm39)	E139*	probably null	Het

Other mutations in Pter

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4812001:Pter	UTSW	2	12,985,179 (GRCm39)	missense	probably damaging	0.97
R0015:Pter	UTSW	2	13,005,811 (GRCm39)	missense	probably damaging	1.00
R0015:Pter	UTSW	2	13,005,811 (GRCm39)	missense	probably damaging	1.00
R0325:Pter	UTSW	2	13,005,748 (GRCm39)	missense	probably damaging	1.00
R0383:Pter	UTSW	2	13,005,753 (GRCm39)	nonsense	probably null
R1452:Pter	UTSW	2	12,983,432 (GRCm39)	splice site	probably benign
R1538:Pter	UTSW	2	12,983,417 (GRCm39)	missense	probably benign	0.02
R1699:Pter	UTSW	2	12,999,572 (GRCm39)	missense	probably damaging	0.97
R2083:Pter	UTSW	2	12,983,247 (GRCm39)	missense	probably damaging	1.00
R3437:Pter	UTSW	2	13,005,805 (GRCm39)	missense	probably benign	0.01
R5707:Pter	UTSW	2	12,982,991 (GRCm39)	utr 5 prime	probably benign
R6267:Pter	UTSW	2	12,983,352 (GRCm39)	missense	probably damaging	1.00
R6298:Pter	UTSW	2	12,983,205 (GRCm39)	missense	probably damaging	1.00
R6329:Pter	UTSW	2	12,985,359 (GRCm39)	missense	probably damaging	1.00
R7842:Pter	UTSW	2	12,983,352 (GRCm39)	missense	probably damaging	1.00
R7894:Pter	UTSW	2	12,999,566 (GRCm39)	missense	probably damaging	0.99
R8218:Pter	UTSW	2	12,985,366 (GRCm39)	missense	probably damaging	1.00
R8415:Pter	UTSW	2	13,005,700 (GRCm39)	missense	probably damaging	1.00
R8862:Pter	UTSW	2	12,985,341 (GRCm39)	missense	probably damaging	1.00
R9429:Pter	UTSW	2	12,985,112 (GRCm39)	missense	probably benign	0.00
R9452:Pter	UTSW	2	12,985,111 (GRCm39)	missense	probably benign	0.01
Z1177:Pter	UTSW	2	13,005,752 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTAGCCAGTACTCACTAAGTCAG -3'
(R):5'- ATCTGGAATGGTGCACCTGG -3'

Sequencing Primer
(F):5'- TGTCCAGTGAGCCCTTGGAATAC -3'
(R):5'- AATGGTGCACCTGGGTTCC -3'

Posted On

2021-04-30