Mutagenetix > Incidental Mutation

Incidental Mutation 'R8415:Pter'

652865

Institutional Source

Beutler Lab

Gene Symbol

Pter

Ensembl Gene

ENSMUSG00000026730

Gene Name

phosphotriesterase related

Synonyms

Mpr56-1

MMRRC Submission

067769-MU

Accession Numbers

Essential gene?

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

Stock #

R8415 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12928852-13008266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13005700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 291 (D291G)

Ref Sequence

ENSEMBL: ENSMUSP00000117009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028063] [ENSMUST00000061545] [ENSMUST00000114796] [ENSMUST00000134794] [ENSMUST00000154269]

AlphaFold

Q60866

Predicted Effect

probably benign
Transcript: ENSMUST00000028063

SMART Domains

Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730

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

probably benign
Transcript: ENSMUST00000061545

SMART Domains

Protein: ENSMUSP00000056188
Gene: ENSMUSG00000049630

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Collagen	59	116	2.6e-11	PFAM
C1Q	120	255	2.92e-35	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114796
AA Change: D223G

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

SMART Domains

Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730
AA Change: D223G

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 damaging
Transcript: ENSMUST00000134794
AA Change: D291G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: D291G

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 damaging
Transcript: ENSMUST00000154269
AA Change: D291G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730
AA Change: D291G

Domain	Start	End	E-Value	Type
Pfam:PTE	15	181	1e-66	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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,947 (GRCm39)	H317R	unknown	Het
Aox1	A	T	1: 58,080,638 (GRCm39)	Y29F	probably damaging	Het
Bnip2	T	C	9: 69,910,967 (GRCm39)	F304S	possibly damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Ccdc18	T	A	5: 108,363,899 (GRCm39)	V1198E	probably damaging	Het
Cnot3	T	C	7: 3,661,687 (GRCm39)	F660L	probably benign	Het
Cntnap3	A	G	13: 64,886,479 (GRCm39)	I1249T	probably benign	Het
Ctnna3	A	G	10: 63,339,909 (GRCm39)	I32V	probably benign	Het
Dgkz	A	T	2: 91,770,649 (GRCm39)	S485T	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,564 (GRCm39)	N182S	probably benign	Het
Dpagt1	C	A	9: 44,238,482 (GRCm39)	N49K	possibly damaging	Het
Dsg3	A	T	18: 20,656,765 (GRCm39)	S212C	probably damaging	Het
Epb41l1	C	T	2: 156,368,873 (GRCm39)	A714V	probably benign	Het
Eppk1	A	G	15: 75,995,831 (GRCm39)	V350A	probably benign	Het
Frem1	T	G	4: 82,918,499 (GRCm39)	D481A	probably damaging	Het
Git2	T	C	5: 114,871,989 (GRCm39)	K532E	possibly damaging	Het
Glyr1	T	C	16: 4,854,329 (GRCm39)	H102R	probably benign	Het
Hdgfl2	C	T	17: 56,400,712 (GRCm39)	P160L	probably benign	Het
Hivep1	T	C	13: 42,308,905 (GRCm39)	S382P	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hydin	G	A	8: 111,178,626 (GRCm39)	G1074R	probably damaging	Het
Ift140	A	G	17: 25,311,889 (GRCm39)	I1271V	probably damaging	Het
Krt28	T	A	11: 99,265,626 (GRCm39)	I14L	probably benign	Het
Lrtm2	A	T	6: 119,294,458 (GRCm39)	D224E	probably damaging	Het
Map1s	G	A	8: 71,365,910 (GRCm39)	V272M	probably damaging	Het
Mast3	A	G	8: 71,233,866 (GRCm39)	Y960H	probably damaging	Het
Mettl25	G	T	10: 105,662,002 (GRCm39)	Q323K	probably benign	Het
Mlh3	A	T	12: 85,315,854 (GRCm39)	S111T	probably benign	Het
Muc17	A	G	5: 137,172,798 (GRCm39)	L85P		Het
Myh6	C	G	14: 55,181,835 (GRCm39)	R1822P	probably damaging	Het
Myof	C	T	19: 37,983,872 (GRCm39)	G144E	probably benign	Het
Nat8f2	A	G	6: 85,845,024 (GRCm39)	S113P	probably damaging	Het
Nlrp9a	A	T	7: 26,256,925 (GRCm39)	Y181F	probably benign	Het
Nup85	A	G	11: 115,457,468 (GRCm39)	I57V	probably benign	Het
Or4c99	T	A	2: 88,329,710 (GRCm39)	C94S	probably damaging	Het
Or5p79	C	T	7: 108,221,163 (GRCm39)	T48I	probably damaging	Het
Or7e170	T	A	9: 19,795,409 (GRCm39)	Y64F	possibly damaging	Het
Pcdhb2	A	G	18: 37,429,110 (GRCm39)	N361S	probably damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Phf20	C	T	2: 156,129,913 (GRCm39)	T495M	probably benign	Het
Pitpnm1	T	C	19: 4,155,454 (GRCm39)	M368T	probably benign	Het
Rasgrp2	T	G	19: 6,454,781 (GRCm39)	V207G	probably damaging	Het
Rnd2	A	T	11: 101,362,011 (GRCm39)	Q188L	probably benign	Het
Sh3d19	T	A	3: 85,992,363 (GRCm39)	D130E	probably benign	Het
Slc7a2	A	T	8: 41,369,396 (GRCm39)	Y617F	probably damaging	Het
Snx29	T	C	16: 11,265,291 (GRCm39)	L165P	probably damaging	Het
St7	T	C	6: 17,848,080 (GRCm39)		probably null	Het
Tas2r115	A	G	6: 132,714,798 (GRCm39)	L51P	probably damaging	Het
Tead1	C	A	7: 112,456,135 (GRCm39)	P164Q	probably benign	Het
Thop1	A	G	10: 80,914,385 (GRCm39)	Y224C	probably damaging	Het
Twf1	T	C	15: 94,477,702 (GRCm39)	*351W	probably null	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Utp20	A	G	10: 88,662,466 (GRCm39)		probably null	Het
Vmn2r118	G	T	17: 55,915,057 (GRCm39)	L530I	probably benign	Het
Vmn2r30	A	T	7: 7,315,359 (GRCm39)	C825S	probably damaging	Het
Vps13d	A	T	4: 144,818,549 (GRCm39)	M3106K		Het
Wfdc15a	A	T	2: 164,041,671 (GRCm39)	C51S	probably damaging	Het
Zc3hc1	T	C	6: 30,375,951 (GRCm39)	D203G	probably damaging	Het
Zfhx2	G	T	14: 55,308,079 (GRCm39)	D932E	probably benign	Het
Zfp267	G	A	3: 36,219,182 (GRCm39)	G402S	probably damaging	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
R8813:Pter	UTSW	2	12,985,114 (GRCm39)	missense	probably benign	0.32
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'- TCATATCAGGTTGAAGTAATGCCTCC -3'
(R):5'- AGGTCTGGGTTCGTGAACAG -3'

Sequencing Primer
(F):5'- GAAGTAATGCCTCCTTGGTATTCAC -3'
(R):5'- TCTGGGTTCGTGAACAGCCATC -3'

Posted On

2020-10-20