Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02606:Pptc7'

300304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pptc7

Ensembl Gene

ENSMUSG00000038582

Gene Name

PTC7 protein phosphatase homolog

Synonyms

9130017A15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

IGL02606

Quality Score

Status

Chromosome

Chromosomal Location

122422461-122462344 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 122451651 bp (GRCm39)

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,099,978 (GRCm39)	N74I	probably benign	Het
Abr	T	C	11: 76,369,990 (GRCm39)	K75R	probably damaging	Het
Adcy10	A	C	1: 165,347,087 (GRCm39)	D368A	possibly damaging	Het
Alas1	A	G	9: 106,118,309 (GRCm39)		probably benign	Het
Alms1	T	A	6: 85,576,949 (GRCm39)	D168E	probably benign	Het
Ankar	C	T	1: 72,729,444 (GRCm39)	A82T	possibly damaging	Het
Atp2c2	C	T	8: 120,457,013 (GRCm39)	T205I	probably benign	Het
Atp9a	A	T	2: 168,494,588 (GRCm39)	L639Q	probably damaging	Het
Btf3l4	T	C	4: 108,675,411 (GRCm39)	D134G	probably benign	Het
Cacna1s	T	C	1: 136,007,257 (GRCm39)	C425R	probably damaging	Het
Cct6b	G	T	11: 82,627,271 (GRCm39)	T322N	probably damaging	Het
Col19a1	G	A	1: 24,573,197 (GRCm39)	R192*	probably null	Het
Cyp8b1	A	T	9: 121,744,801 (GRCm39)	F177Y	probably damaging	Het
Dnajc11	T	A	4: 152,063,941 (GRCm39)	N474K	probably benign	Het
Dusp16	T	C	6: 134,737,999 (GRCm39)	E13G	probably damaging	Het
Ephx2	T	C	14: 66,323,741 (GRCm39)	N397S	probably damaging	Het
Fancm	T	C	12: 65,122,913 (GRCm39)	V145A	possibly damaging	Het
Fiz1	A	G	7: 5,012,158 (GRCm39)	L120P	possibly damaging	Het
Galnt6	C	T	15: 100,612,100 (GRCm39)	V181M	probably damaging	Het
Ginm1	A	G	10: 7,646,163 (GRCm39)	V279A	probably damaging	Het
Gja10	T	G	4: 32,601,509 (GRCm39)	I292L	probably benign	Het
Gnb3	T	C	6: 124,814,378 (GRCm39)	S136G	probably benign	Het
Gramd1a	A	T	7: 30,833,940 (GRCm39)	V495E	probably damaging	Het
Il1rn	G	T	2: 24,235,462 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,486 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,937 (GRCm39)	S229P	possibly damaging	Het
Kdm4a	T	C	4: 118,017,486 (GRCm39)	T527A	probably benign	Het
Kif14	C	T	1: 136,424,331 (GRCm39)	A982V	probably damaging	Het
Klf6	A	G	13: 5,916,734 (GRCm39)	K293R	probably damaging	Het
Letmd1	A	G	15: 100,372,972 (GRCm39)	D92G	probably damaging	Het
Lmod1	G	A	1: 135,292,218 (GRCm39)	V358M	probably benign	Het
Ndufs1	A	T	1: 63,199,011 (GRCm39)	D295E	probably damaging	Het
Nek4	A	G	14: 30,685,916 (GRCm39)	N283S	probably benign	Het
Nhsl1	A	G	10: 18,387,385 (GRCm39)	T220A	probably damaging	Het
Nucks1	T	A	1: 131,852,363 (GRCm39)	D71E	probably damaging	Het
Or4n4	T	C	14: 50,519,530 (GRCm39)	Y60C	probably damaging	Het
Or8g18	C	A	9: 39,149,490 (GRCm39)	V77F	probably damaging	Het
Pkhd1l1	A	G	15: 44,452,852 (GRCm39)	T3926A	probably benign	Het
Prdm11	A	G	2: 92,805,948 (GRCm39)	V334A	probably benign	Het
Ptdss2	C	A	7: 140,732,911 (GRCm39)	C231*	probably null	Het
R3hdm1	C	T	1: 128,118,456 (GRCm39)	P570S	probably benign	Het
Rlbp1	T	C	7: 79,027,037 (GRCm39)	T208A	possibly damaging	Het
Rnaseh2a	T	G	8: 85,686,723 (GRCm39)	D142A	probably damaging	Het
Rufy4	C	T	1: 74,172,509 (GRCm39)		probably benign	Het
Tektl1	A	G	10: 78,584,300 (GRCm39)	Y372H	probably benign	Het
Tlcd4	G	T	3: 121,022,013 (GRCm39)	D128E	possibly damaging	Het
Ttn	A	G	2: 76,646,565 (GRCm39)	I11081T	possibly damaging	Het
Ubap2l	A	T	3: 89,945,735 (GRCm39)	S173R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,959 (GRCm39)	N23S	probably damaging	Het
Vwce	C	A	19: 10,632,712 (GRCm39)		probably benign	Het

Other mutations in Pptc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Pptc7	APN	5	122,451,665 (GRCm39)	missense	probably damaging	1.00
R0632:Pptc7	UTSW	5	122,451,654 (GRCm39)	splice site	probably benign
R1829:Pptc7	UTSW	5	122,451,679 (GRCm39)	missense	probably damaging	1.00
R4899:Pptc7	UTSW	5	122,422,780 (GRCm39)	missense	possibly damaging	0.51
R5110:Pptc7	UTSW	5	122,446,312 (GRCm39)	missense	probably benign	0.03
R5119:Pptc7	UTSW	5	122,451,844 (GRCm39)	missense	possibly damaging	0.92
R5600:Pptc7	UTSW	5	122,458,918 (GRCm39)	missense	probably damaging	1.00
R7214:Pptc7	UTSW	5	122,451,840 (GRCm39)	missense	probably benign	0.01
R7497:Pptc7	UTSW	5	122,422,942 (GRCm39)	missense	possibly damaging	0.51
R7513:Pptc7	UTSW	5	122,446,192 (GRCm39)	critical splice acceptor site	probably null
R8175:Pptc7	UTSW	5	122,457,882 (GRCm39)	missense	probably benign	0.42

Posted On

2015-04-16