Mutagenetix > Incidental Mutation

Incidental Mutation 'R2083:Pter'

230126

Institutional Source

Beutler Lab

Gene Symbol

Pter

Ensembl Gene

ENSMUSG00000026730

Gene Name

phosphotriesterase related

Synonyms

Mpr56-1

MMRRC Submission

040088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R2083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12924041-13003455 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12978436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 84 (L84Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118645 (fasta)

Gene Model

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

AlphaFold

Q60866

Predicted Effect

probably damaging
Transcript: ENSMUST00000028063
AA Change: L84Q

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

SMART Domains

Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730
AA Change: L84Q

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: ENSMUST00000114796

SMART Domains

Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730

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: L84Q

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

SMART Domains

Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: L84Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150283

Predicted Effect

probably damaging
Transcript: ENSMUST00000154269
AA Change: L84Q

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

SMART Domains

Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730
AA Change: L84Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195521

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	A	5: 146,184,871	M73L	possibly damaging	Het
AA986860	A	T	1: 130,741,069	I58F	probably damaging	Het
Acsl3	A	T	1: 78,699,811	K507N	probably damaging	Het
Adcy3	T	C	12: 4,173,512	Y245H	probably damaging	Het
Adgra1	T	C	7: 139,875,631	S392P	probably damaging	Het
Ahnak	C	T	19: 9,011,557	P3402S	probably damaging	Het
Ambra1	T	A	2: 91,766,600	I12N	possibly damaging	Het
Atp10b	A	G	11: 43,212,423	T545A	probably benign	Het
Atxn2	G	T	5: 121,784,006	A638S	probably benign	Het
Cd109	T	C	9: 78,667,293	S520P	probably damaging	Het
Col6a3	T	C	1: 90,782,011	D1821G	unknown	Het
Cyp4a10	T	C	4: 115,525,308	V265A	possibly damaging	Het
Dmrtb1	C	T	4: 107,683,612	R184Q	possibly damaging	Het
Dnah7b	A	T	1: 46,241,067	I2719F	possibly damaging	Het
En2	T	C	5: 28,167,073	S183P	probably damaging	Het
Etfb	A	G	7: 43,456,500	T101A	probably benign	Het
Etl4	T	A	2: 20,743,549	S364T	probably damaging	Het
Fam196b	A	G	11: 34,402,141	D61G	probably benign	Het
Gm17728	C	A	17: 9,422,289	S77Y	possibly damaging	Het
Golga4	A	G	9: 118,532,590	E221G	probably damaging	Het
Gpr37	T	C	6: 25,688,417	N227S	possibly damaging	Het
Kctd1	A	T	18: 14,974,055	N784K	possibly damaging	Het
Klhl22	A	G	16: 17,776,525	T173A	probably benign	Het
Ly6e	T	A	15: 74,958,319	C41S	probably damaging	Het
Mapkbp1	T	C	2: 120,015,482	L444P	possibly damaging	Het
Mkx	A	T	18: 6,992,855	I143K	probably damaging	Het
Mlh3	A	G	12: 85,269,041	F124L	probably benign	Het
Nlrp1a	A	T	11: 71,124,220	L68H	possibly damaging	Het
Obscn	A	C	11: 59,073,631	Y726*	probably null	Het
Olfr1312	C	T	2: 112,042,553	V160I	probably benign	Het
Olfr26	T	G	9: 38,855,341	V93G	probably benign	Het
Peak1	G	A	9: 56,258,949	S565L	probably damaging	Het
Ptpn4	A	G	1: 119,687,759	L555P	possibly damaging	Het
Rpp40	A	T	13: 35,898,992	M171K	probably benign	Het
Sacs	A	G	14: 61,206,506	I2000M	possibly damaging	Het
Scn5a	T	C	9: 119,492,123	I1458V	probably benign	Het
Slc38a4	T	C	15: 97,008,993	D288G	probably benign	Het
Slc8a2	T	G	7: 16,134,515	V224G	probably damaging	Het
Sptbn4	T	C	7: 27,428,256	E173G	probably benign	Het
Tas1r1	T	A	4: 152,028,391	H735L	probably benign	Het
Trps1	G	T	15: 50,822,305	Q155K	probably damaging	Het
Tspyl5	T	C	15: 33,686,746	H351R	probably damaging	Het
Ttf2	A	T	3: 100,969,501	D21E	probably benign	Het
Ttll7	A	G	3: 146,930,104	R398G	possibly damaging	Het
Tubgcp6	A	T	15: 89,122,376	Y148N	probably damaging	Het
Vmn1r8	T	A	6: 57,036,340	H125Q	probably benign	Het
Zfhx4	A	G	3: 5,403,163	T2794A	possibly damaging	Het
Zfp27	T	C	7: 29,894,783	I586V	probably benign	Het
Zfyve16	T	C	13: 92,524,262	D13G	probably damaging	Het

Other mutations in Pter

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4812001:Pter	UTSW	2	12980368	missense	probably damaging	0.97
R0015:Pter	UTSW	2	13001000	missense	probably damaging	1.00
R0015:Pter	UTSW	2	13001000	missense	probably damaging	1.00
R0325:Pter	UTSW	2	13000937	missense	probably damaging	1.00
R0383:Pter	UTSW	2	13000942	nonsense	probably null
R1452:Pter	UTSW	2	12978621	splice site	probably benign
R1538:Pter	UTSW	2	12978606	missense	probably benign	0.02
R1699:Pter	UTSW	2	12994761	missense	probably damaging	0.97
R3437:Pter	UTSW	2	13000994	missense	probably benign	0.01
R5707:Pter	UTSW	2	12978180	utr 5 prime	probably benign
R6267:Pter	UTSW	2	12978541	missense	probably damaging	1.00
R6298:Pter	UTSW	2	12978394	missense	probably damaging	1.00
R6329:Pter	UTSW	2	12980548	missense	probably damaging	1.00
R7842:Pter	UTSW	2	12978541	missense	probably damaging	1.00
R7894:Pter	UTSW	2	12994755	missense	probably damaging	0.99
R8218:Pter	UTSW	2	12980555	missense	probably damaging	1.00
R8415:Pter	UTSW	2	13000889	missense	probably damaging	1.00
R8813:Pter	UTSW	2	12980303	missense	probably benign	0.32
R8862:Pter	UTSW	2	12980530	missense	probably damaging	1.00
R9429:Pter	UTSW	2	12980301	missense	probably benign	0.00
R9452:Pter	UTSW	2	12980300	missense	probably benign	0.01
Z1177:Pter	UTSW	2	13000941	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACAGTTCTGGGCCTTGTAGAAC -3'
(R):5'- CACTGACATGGCTCTGGTTG -3'

Sequencing Primer
(F):5'- TGGGCCTTGTAGAACCCAGC -3'
(R):5'- GCTGCAGAGTGAGTTGCATCAAC -3'

Posted On

2014-09-18