Mutagenetix > Incidental Mutation

Incidental Mutation 'R8862:Pter'

675693

Institutional Source

Beutler Lab

Gene Symbol

Pter

Ensembl Gene

ENSMUSG00000026730

Gene Name

phosphotriesterase related

Synonyms

Mpr56-1

MMRRC Submission

068741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R8862 (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 12985341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 224 (S224P)

Ref Sequence

ENSEMBL: ENSMUSP00000117009 (fasta)

Gene Model

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

AlphaFold

Q60866

Predicted Effect

probably damaging
Transcript: ENSMUST00000028063
AA Change: S224P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028063
Gene: ENSMUSG00000026730
AA Change: S224P

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 damaging
Transcript: ENSMUST00000114796
AA Change: S156P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110444
Gene: ENSMUSG00000026730
AA Change: S156P

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: S224P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117009
Gene: ENSMUSG00000026730
AA Change: S224P

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: S224P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118645
Gene: ENSMUSG00000026730
AA Change: S224P

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

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,901,172 (GRCm39)	G685R	probably benign	Het
Ahdc1	T	C	4: 132,791,129 (GRCm39)	F790S	possibly damaging	Het
Alg10b	T	C	15: 90,109,893 (GRCm39)	Y69H	probably damaging	Het
Amer3	A	T	1: 34,626,465 (GRCm39)	S235C	probably damaging	Het
Ankfy1	G	T	11: 72,644,469 (GRCm39)	S722I	probably benign	Het
Baz1a	T	C	12: 55,032,624 (GRCm39)		probably benign	Het
Ccdc177	A	G	12: 80,804,208 (GRCm39)	S689P	unknown	Het
Cdh24	C	A	14: 54,869,874 (GRCm39)	R681L	probably damaging	Het
Cdk14	T	G	5: 5,060,862 (GRCm39)	I338L	probably benign	Het
Clec2m	T	C	6: 129,308,494 (GRCm39)	T12A	probably benign	Het
Col18a1	G	T	10: 76,949,044 (GRCm39)	S156*	probably null	Het
Col6a6	T	C	9: 105,663,348 (GRCm39)	Y63C	probably damaging	Het
Cytip	G	A	2: 58,037,887 (GRCm39)	T159M	probably benign	Het
Dnah5	T	C	15: 28,459,502 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,855,927 (GRCm39)	Y744C	probably damaging	Het
Dop1a	T	C	9: 86,406,404 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,934 (GRCm39)	D385E	probably damaging	Het
Efhc1	A	C	1: 21,037,573 (GRCm39)	D250A		Het
Epha3	T	A	16: 63,431,348 (GRCm39)	T519S	probably benign	Het
Gas2l3	A	G	10: 89,250,282 (GRCm39)	Y279H	probably damaging	Het
Gatd3a	A	G	10: 78,005,461 (GRCm39)	S35P	probably damaging	Het
Gemin6	G	A	17: 80,535,432 (GRCm39)	V131I	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gnai2	C	A	9: 107,512,326 (GRCm39)	A31S		Het
Greb1l	A	G	18: 10,555,042 (GRCm39)	D1696G	possibly damaging	Het
Itfg2	T	C	6: 128,394,668 (GRCm39)	E35G	probably damaging	Het
Kctd10	A	G	5: 114,503,921 (GRCm39)	F244L	probably damaging	Het
Kif19b	C	A	5: 140,472,534 (GRCm39)	P686Q	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lgals9	G	T	11: 78,860,716 (GRCm39)		probably benign	Het
Lrriq4	A	T	3: 30,705,088 (GRCm39)	N372I	probably damaging	Het
Mical2	A	G	7: 111,910,574 (GRCm39)	N248S	probably damaging	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Myo1a	G	A	10: 127,548,653 (GRCm39)	V396M	probably benign	Het
Myod1	A	G	7: 46,026,487 (GRCm39)	T131A	probably damaging	Het
Nalcn	T	A	14: 123,647,199 (GRCm39)	D558V	possibly damaging	Het
Odf2l	T	A	3: 144,833,758 (GRCm39)		probably benign	Het
Or6d13	G	A	6: 116,518,186 (GRCm39)	M257I	probably benign	Het
Plbd2	A	T	5: 120,624,728 (GRCm39)	M480K	probably damaging	Het
Ppargc1a	A	G	5: 51,631,235 (GRCm39)	F465L	possibly damaging	Het
Ppp1r15b	A	T	1: 133,064,506 (GRCm39)	I659F	probably damaging	Het
Prune2	C	T	19: 17,097,510 (GRCm39)	L1005F	probably benign	Het
Ralgapa2	A	G	2: 146,266,731 (GRCm39)	I615T	probably benign	Het
Ror1	T	C	4: 100,191,715 (GRCm39)		probably null	Het
Rps2	A	G	17: 24,940,662 (GRCm39)	T259A	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
S1pr4	G	A	10: 81,334,533 (GRCm39)	R314C	probably damaging	Het
Sema4f	A	T	6: 82,891,081 (GRCm39)	H575Q	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sox8	A	T	17: 25,787,045 (GRCm39)	H219Q	possibly damaging	Het
Spink2	C	T	5: 77,357,615 (GRCm39)	D24N	probably benign	Het
Stard9	A	G	2: 120,534,099 (GRCm39)	D3452G	probably benign	Het
Syngr2	G	T	11: 117,703,507 (GRCm39)	D108Y	probably damaging	Het
Tardbp	G	A	4: 148,702,755 (GRCm39)	S403L	possibly damaging	Het
Tomm70a	T	C	16: 56,942,546 (GRCm39)	S108P	probably benign	Het
Ttc12	T	C	9: 49,351,515 (GRCm39)	T661A	probably benign	Het
Tubgcp6	A	G	15: 89,006,824 (GRCm39)	V66A	probably benign	Het
Unc13b	T	A	4: 43,235,207 (GRCm39)	L477Q	probably damaging	Het
Vmn1r77	T	A	7: 11,776,060 (GRCm39)	C279S	probably benign	Het
Vmn2r79	T	C	7: 86,645,712 (GRCm39)	S14P	probably benign	Het
Zan	T	C	5: 137,472,674 (GRCm39)	T72A	probably benign	Het
Zcchc2	A	G	1: 105,958,998 (GRCm39)	*1156W	probably null	Het
Zfp354c	A	T	11: 50,708,718 (GRCm39)	D26E	probably benign	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
R8813:Pter	UTSW	2	12,985,114 (GRCm39)	missense	probably benign	0.32
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'- AATTCTCCATGGAGCTGATGG -3'
(R):5'- ACTTCCAACACTCAGTATTGGGG -3'

Sequencing Primer
(F):5'- CACCAGCATCAAGTGTGGAGTTATTG -3'
(R):5'- GGGAAAATCATCTTCCAGGTAGCC -3'

Posted On

2021-07-15