Mutagenetix > Incidental Mutations

Incidental Mutation 'R1629:Ppig'

172658

Institutional Source

Beutler Lab

Gene Symbol

Ppig

Ensembl Gene

ENSMUSG00000042133

Gene Name

peptidyl-prolyl isomerase G (cyclophilin G)

Synonyms

SRCyp, B230312B02Rik

MMRRC Submission

039666-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69722545-69754012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 69735873 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 128 (T128K)

Ref Sequence

ENSEMBL: ENSMUSP00000088370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040915] [ENSMUST00000090858] [ENSMUST00000144652]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040915
AA Change: T128K

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

SMART Domains

Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: T128K

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	11	176	2.8e-50	PFAM
low complexity region	180	258	N/A	INTRINSIC
low complexity region	272	280	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	334	354	N/A	INTRINSIC
low complexity region	417	433	N/A	INTRINSIC
low complexity region	441	478	N/A	INTRINSIC
internal_repeat_1	483	518	1.1e-9	PROSPERO
internal_repeat_2	485	555	1.1e-9	PROSPERO
internal_repeat_3	506	556	4.26e-7	PROSPERO
internal_repeat_1	521	556	1.1e-9	PROSPERO
low complexity region	559	586	N/A	INTRINSIC
low complexity region	591	637	N/A	INTRINSIC
internal_repeat_3	646	693	4.26e-7	PROSPERO
internal_repeat_4	653	686	6.68e-6	PROSPERO
internal_repeat_2	661	735	1.1e-9	PROSPERO
internal_repeat_4	711	744	6.68e-6	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000090858
AA Change: T128K

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

SMART Domains

Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: T128K

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	11	176	2.7e-49	PFAM
low complexity region	180	258	N/A	INTRINSIC
low complexity region	272	280	N/A	INTRINSIC
low complexity region	295	307	N/A	INTRINSIC
low complexity region	334	354	N/A	INTRINSIC
low complexity region	417	433	N/A	INTRINSIC
low complexity region	441	478	N/A	INTRINSIC
internal_repeat_1	483	518	1.1e-9	PROSPERO
internal_repeat_2	485	555	1.1e-9	PROSPERO
internal_repeat_3	506	556	4.26e-7	PROSPERO
internal_repeat_1	521	556	1.1e-9	PROSPERO
low complexity region	559	586	N/A	INTRINSIC
low complexity region	591	637	N/A	INTRINSIC
internal_repeat_3	646	693	4.26e-7	PROSPERO
internal_repeat_4	653	686	6.68e-6	PROSPERO
internal_repeat_2	661	735	1.1e-9	PROSPERO
internal_repeat_4	711	744	6.68e-6	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142839

Predicted Effect

probably benign
Transcript: ENSMUST00000144652

SMART Domains

Protein: ENSMUSP00000114570
Gene: ENSMUSG00000042133

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	11	127	8.4e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146234

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 58,954,619	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
BC005624	T	C	2: 30,974,008	E191G	probably damaging	Het
Cbx2	A	G	11: 119,028,980	D457G	probably damaging	Het
Ccdc110	A	G	8: 45,942,127	K352E	probably benign	Het
Cdk14	A	T	5: 5,103,807	H183Q	probably benign	Het
Cfap58	A	G	19: 47,941,339	T80A	probably benign	Het
Cftr	C	T	6: 18,226,106	T351I	probably damaging	Het
Col27a1	A	G	4: 63,329,863		probably benign	Het
Cp	T	A	3: 19,966,450		probably null	Het
Cpne8	A	T	15: 90,571,972	V196E	probably benign	Het
Dmxl1	T	G	18: 49,859,286		probably null	Het
Dnm2	T	A	9: 21,504,458	L642Q	probably damaging	Het
Dock2	G	T	11: 34,262,480		probably null	Het
Dock9	A	G	14: 121,543,574	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,824,701	V53A	probably damaging	Het
Fam208b	T	C	13: 3,574,121	H1943R	possibly damaging	Het
Fbl	G	T	7: 28,174,787		probably benign	Het
Fbn2	T	C	18: 58,026,538	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,610,974	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,356,860	F348I	probably benign	Het
Khdc1a	T	A	1: 21,350,897	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,464,186	T270A	probably benign	Het
Lama1	T	C	17: 67,805,428	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,613,495	E337G	possibly damaging	Het
Macf1	C	A	4: 123,508,415	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641	V209F	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myh9	G	A	15: 77,764,401	R1725W	probably damaging	Het
Nbea	A	T	3: 56,002,891	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,563,986	A496T	probably benign	Het
Nufip2	A	G	11: 77,693,008	T583A	probably benign	Het
Olfr1033	A	G	2: 86,041,422	T36A	probably damaging	Het
Ppp2r2a	A	T	14: 67,019,759	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,669,799	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,064,988	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Slc1a7	A	G	4: 108,008,143	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,067,107	D221G	probably benign	Het
Smn1	C	A	13: 100,127,896	T45N	probably damaging	Het
Son	T	C	16: 91,657,622	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,492	Y45N	possibly damaging	Het
Tmem184c	A	C	8: 77,602,922	F170V	possibly damaging	Het
Tmem184c	A	T	8: 77,606,162		probably null	Het
Vmn1r59	C	T	7: 5,454,467	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,713,427	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,067,383	S493P	possibly damaging	Het

Other mutations in Ppig

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Ppig	APN	2	69749716	missense	unknown
IGL00780:Ppig	APN	2	69732924	missense	possibly damaging	0.89
IGL02043:Ppig	APN	2	69735983	splice site	probably null
IGL02420:Ppig	APN	2	69732227	missense	probably benign	0.03
IGL02736:Ppig	APN	2	69736094	missense	probably damaging	1.00
R0358:Ppig	UTSW	2	69743598	splice site	probably benign
R0396:Ppig	UTSW	2	69735976	unclassified	probably benign
R1035:Ppig	UTSW	2	69749459	missense	unknown
R1159:Ppig	UTSW	2	69750224	missense	unknown
R1396:Ppig	UTSW	2	69749018	missense	unknown
R1593:Ppig	UTSW	2	69749081	missense	unknown
R1799:Ppig	UTSW	2	69749400	missense	unknown
R2001:Ppig	UTSW	2	69741644	missense	unknown
R2112:Ppig	UTSW	2	69750107	missense	unknown
R3702:Ppig	UTSW	2	69733209	missense	probably damaging	1.00
R3855:Ppig	UTSW	2	69749375	missense	unknown
R4999:Ppig	UTSW	2	69741486	missense	unknown
R5001:Ppig	UTSW	2	69741486	missense	unknown
R5153:Ppig	UTSW	2	69749650	missense	unknown
R5218:Ppig	UTSW	2	69732783	intron	probably benign
R5336:Ppig	UTSW	2	69750224	missense	unknown
R5410:Ppig	UTSW	2	69735897	missense	probably null	1.00
R5443:Ppig	UTSW	2	69734291	missense	probably damaging	1.00
R5513:Ppig	UTSW	2	69750359	missense	probably benign	0.23
R6179:Ppig	UTSW	2	69750127	missense	unknown
R6333:Ppig	UTSW	2	69749558	missense	unknown
R6604:Ppig	UTSW	2	69741581	missense	unknown
R6932:Ppig	UTSW	2	69732411	missense	probably benign	0.40
R7206:Ppig	UTSW	2	69741566	missense	unknown
R7220:Ppig	UTSW	2	69749976	missense	unknown
R7308:Ppig	UTSW	2	69749462	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGAGCCATCAGACTGACTGTTCC -3'
(R):5'- TTCCTGACCAGAGATCACTTGCCC -3'

Sequencing Primer
(F):5'- catgttggctcacaaccatc -3'
(R):5'- TTGCCCAAAAACAACATGATGC -3'

Posted On

2014-04-24