Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Pptc7'

59701

Institutional Source

Beutler Lab

Gene Symbol

Pptc7

Ensembl Gene

ENSMUSG00000038582

Gene Name

PTC7 protein phosphatase homolog

Synonyms

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R0632 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

122284365-122324281 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 122313591 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053426] [ENSMUST00000119015]

AlphaFold

Q6NVE9

Predicted Effect

probably benign
Transcript: ENSMUST00000053426

SMART Domains

Protein: ENSMUSP00000051838
Gene: ENSMUSG00000038582

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
PP2Cc	44	303	1.88e-5	SMART
PP2C_SIG	66	305	4.6e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119015

SMART Domains

Protein: ENSMUSP00000113194
Gene: ENSMUSG00000038582

Domain	Start	End	E-Value	Type
PP2C_SIG	9	202	1.91e-1	SMART

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618 (GRCm38)	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818 (GRCm38)		probably benign	Het
Adgrg7	T	A	16: 56,742,589 (GRCm38)	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148 (GRCm38)	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529 (GRCm38)	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167 (GRCm38)	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280 (GRCm38)	Y522*	probably null	Het
Art5	G	A	7: 102,097,957 (GRCm38)	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855 (GRCm38)	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208 (GRCm38)	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563 (GRCm38)	E66G	probably benign	Het
C8a	T	C	4: 104,856,492 (GRCm38)	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649 (GRCm38)	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749 (GRCm38)		probably benign	Het
Cfap54	C	T	10: 92,885,096 (GRCm38)	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747 (GRCm38)	E195K	probably benign	Het
Cp	A	G	3: 19,971,082 (GRCm38)	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194 (GRCm38)	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997 (GRCm38)	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582 (GRCm38)	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246 (GRCm38)	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682 (GRCm38)		probably benign	Het
Dnah3	A	G	7: 119,967,905 (GRCm38)	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134 (GRCm38)	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346 (GRCm38)		probably benign	Het
Dst	G	T	1: 34,271,413 (GRCm38)	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459 (GRCm38)		probably benign	Het
Epha7	A	T	4: 28,821,104 (GRCm38)	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881 (GRCm38)	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199 (GRCm38)	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747 (GRCm38)	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918 (GRCm38)	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171 (GRCm38)	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782 (GRCm38)	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584 (GRCm38)	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812 (GRCm38)	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027 (GRCm38)	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346 (GRCm38)	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155 (GRCm38)	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439 (GRCm38)	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372 (GRCm38)	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581 (GRCm38)		probably benign	Het
Lama1	C	T	17: 67,752,368 (GRCm38)		probably benign	Het
Lcp2	C	T	11: 34,082,426 (GRCm38)	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028 (GRCm38)	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726 (GRCm38)	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143 (GRCm38)	L36P	probably damaging	Het
Mmp13	A	T	9: 7,282,077 (GRCm38)	I460F	possibly damaging	Het
Mmp13	G	A	9: 7,274,032 (GRCm38)	G169R	probably damaging	Het
Msh4	A	G	3: 153,896,895 (GRCm38)	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532 (GRCm38)	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150 (GRCm38)		probably benign	Het
Nme8	A	T	13: 19,658,036 (GRCm38)	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115 (GRCm38)	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274 (GRCm38)	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604 (GRCm38)		probably null	Het
Olfr652	A	G	7: 104,564,337 (GRCm38)	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703 (GRCm38)	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214 (GRCm38)		probably benign	Het
Plec	A	T	15: 76,173,411 (GRCm38)	S4131T	probably damaging	Het
Prpf40b	A	G	15: 99,316,289 (GRCm38)	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610 (GRCm38)	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104 (GRCm38)	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896 (GRCm38)		probably benign	Het
Rasgrf2	A	G	13: 91,972,274 (GRCm38)	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551 (GRCm38)	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495 (GRCm38)	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031 (GRCm38)	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080 (GRCm38)	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641 (GRCm38)	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801 (GRCm38)		probably benign	Het
Snrnp40	C	G	4: 130,378,043 (GRCm38)		probably null	Het
Tab2	A	G	10: 7,919,801 (GRCm38)	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595 (GRCm38)	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542 (GRCm38)	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967 (GRCm38)	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150 (GRCm38)	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884 (GRCm38)	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137 (GRCm38)	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920 (GRCm38)	I480F	probably damaging	Het

Other mutations in Pptc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Pptc7	APN	5	122,313,602 (GRCm38)	missense	probably damaging	1.00
IGL02606:Pptc7	APN	5	122,313,588 (GRCm38)	splice site	probably benign
R1829:Pptc7	UTSW	5	122,313,616 (GRCm38)	missense	probably damaging	1.00
R4899:Pptc7	UTSW	5	122,284,717 (GRCm38)	missense	possibly damaging	0.51
R5110:Pptc7	UTSW	5	122,308,249 (GRCm38)	missense	probably benign	0.03
R5119:Pptc7	UTSW	5	122,313,781 (GRCm38)	missense	possibly damaging	0.92
R5600:Pptc7	UTSW	5	122,320,855 (GRCm38)	missense	probably damaging	1.00
R7214:Pptc7	UTSW	5	122,313,777 (GRCm38)	missense	probably benign	0.01
R7497:Pptc7	UTSW	5	122,284,879 (GRCm38)	missense	possibly damaging	0.51
R7513:Pptc7	UTSW	5	122,308,129 (GRCm38)	critical splice acceptor site	probably null
R8175:Pptc7	UTSW	5	122,319,819 (GRCm38)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ACTCGTGTCTACAGGAGGAGGAAC -3'
(R):5'- TGTAAGAGCACCTTGGCTTGGC -3'

Sequencing Primer
(F):5'- CTACAGGAGGAGGAACATGGTG -3'
(R):5'- ACTAACTGGTCCTGAGGACG -3'

Posted On

2013-07-11