Mutagenetix > Incidental Mutation

Incidental Mutation 'R3855:Ppig'

276093

Institutional Source

Beutler Lab

Gene Symbol

Ppig

Ensembl Gene

ENSMUSG00000042133

Gene Name

peptidyl-prolyl isomerase G (cyclophilin G)

Synonyms

SRCyp, B230312B02Rik

MMRRC Submission

040901-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R3855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69553152-69584356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69579719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 418 (V418I)

Ref Sequence

ENSEMBL: ENSMUSP00000088370 (fasta)

Gene Model

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

AlphaFold

A2AR02

Predicted Effect

unknown
Transcript: ENSMUST00000040915
AA Change: V418I

SMART Domains

Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: V418I

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

unknown
Transcript: ENSMUST00000090858
AA Change: V418I

SMART Domains

Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: V418I

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: ENSMUST00000143954

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.9%
20x: 93.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,291,705 (GRCm39)	S1144R	probably damaging	Het
Apbb1ip	T	C	2: 22,765,187 (GRCm39)	S623P	unknown	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Ccnq	T	C	11: 78,642,013 (GRCm39)	N159S	probably benign	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,256,742 (GRCm39)		probably null	Het
Dennd4c	G	A	4: 86,698,084 (GRCm39)	V191M	probably damaging	Het
Dthd1	T	A	5: 62,984,472 (GRCm39)	H392Q	probably benign	Het
Dthd1	T	C	5: 63,045,366 (GRCm39)	V710A	probably benign	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm4868	A	G	5: 125,925,609 (GRCm39)		noncoding transcript	Het
Gpr179	T	C	11: 97,232,260 (GRCm39)	E648G	probably damaging	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Itgb3bp	T	C	4: 99,686,957 (GRCm39)	E76G	possibly damaging	Het
Khk	A	G	5: 31,084,401 (GRCm39)	D82G	probably benign	Het
Kif17	A	G	4: 138,018,821 (GRCm39)	S533G	probably benign	Het
Kmt2a	A	G	9: 44,741,796 (GRCm39)		probably benign	Het
Kmt5c	T	C	7: 4,749,255 (GRCm39)	F104S	probably damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Nbas	T	A	12: 13,329,415 (GRCm39)	I120N	possibly damaging	Het
Nfia	A	G	4: 97,951,259 (GRCm39)	H362R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nme5	A	G	18: 34,702,884 (GRCm39)	S135P	possibly damaging	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Nufip2	T	C	11: 77,583,715 (GRCm39)	V543A	probably damaging	Het
Or1l4b	A	T	2: 37,036,835 (GRCm39)	I204F	possibly damaging	Het
Or2y10	A	G	11: 49,454,918 (GRCm39)	T57A	probably damaging	Het
Otog	T	C	7: 45,923,184 (GRCm39)	S1020P	possibly damaging	Het
Pear1	T	C	3: 87,659,228 (GRCm39)	H814R	possibly damaging	Het
Pkd1l1	A	G	11: 8,915,047 (GRCm39)		probably null	Het
Pla2g4a	T	A	1: 149,705,928 (GRCm39)	I711F	possibly damaging	Het
Prg4	T	C	1: 150,327,751 (GRCm39)	Y234C	probably damaging	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sepsecs	G	A	5: 52,821,616 (GRCm39)	R74C	probably damaging	Het
Sgsm1	A	G	5: 113,411,125 (GRCm39)	V580A	probably benign	Het
Sh3bp1	C	T	15: 78,785,361 (GRCm39)		probably benign	Het
Sox11	C	A	12: 27,391,501 (GRCm39)	G303C	probably damaging	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	Het
Xylt1	T	G	7: 117,192,777 (GRCm39)	L361R	probably damaging	Het
Zfp512	A	G	5: 31,637,593 (GRCm39)	R505G	possibly damaging	Het

Other mutations in Ppig

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Ppig	APN	2	69,580,060 (GRCm39)	missense	unknown
IGL00780:Ppig	APN	2	69,563,268 (GRCm39)	missense	possibly damaging	0.89
IGL02043:Ppig	APN	2	69,566,327 (GRCm39)	splice site	probably null
IGL02420:Ppig	APN	2	69,562,571 (GRCm39)	missense	probably benign	0.03
IGL02736:Ppig	APN	2	69,566,438 (GRCm39)	missense	probably damaging	1.00
R0358:Ppig	UTSW	2	69,573,942 (GRCm39)	splice site	probably benign
R0396:Ppig	UTSW	2	69,566,320 (GRCm39)	unclassified	probably benign
R1035:Ppig	UTSW	2	69,579,803 (GRCm39)	missense	unknown
R1159:Ppig	UTSW	2	69,580,568 (GRCm39)	missense	unknown
R1396:Ppig	UTSW	2	69,579,362 (GRCm39)	missense	unknown
R1593:Ppig	UTSW	2	69,579,425 (GRCm39)	missense	unknown
R1629:Ppig	UTSW	2	69,566,217 (GRCm39)	missense	probably damaging	1.00
R1799:Ppig	UTSW	2	69,579,744 (GRCm39)	missense	unknown
R2001:Ppig	UTSW	2	69,571,988 (GRCm39)	missense	unknown
R2112:Ppig	UTSW	2	69,580,451 (GRCm39)	missense	unknown
R3702:Ppig	UTSW	2	69,563,553 (GRCm39)	missense	probably damaging	1.00
R4999:Ppig	UTSW	2	69,571,830 (GRCm39)	missense	unknown
R5001:Ppig	UTSW	2	69,571,830 (GRCm39)	missense	unknown
R5153:Ppig	UTSW	2	69,579,994 (GRCm39)	missense	unknown
R5218:Ppig	UTSW	2	69,563,127 (GRCm39)	intron	probably benign
R5336:Ppig	UTSW	2	69,580,568 (GRCm39)	missense	unknown
R5410:Ppig	UTSW	2	69,566,241 (GRCm39)	missense	probably null	1.00
R5443:Ppig	UTSW	2	69,564,635 (GRCm39)	missense	probably damaging	1.00
R5513:Ppig	UTSW	2	69,580,703 (GRCm39)	missense	probably benign	0.23
R6179:Ppig	UTSW	2	69,580,471 (GRCm39)	missense	unknown
R6333:Ppig	UTSW	2	69,579,902 (GRCm39)	missense	unknown
R6604:Ppig	UTSW	2	69,571,925 (GRCm39)	missense	unknown
R6932:Ppig	UTSW	2	69,562,755 (GRCm39)	missense	probably benign	0.40
R7206:Ppig	UTSW	2	69,571,910 (GRCm39)	missense	unknown
R7220:Ppig	UTSW	2	69,580,320 (GRCm39)	missense	unknown
R7308:Ppig	UTSW	2	69,579,806 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGAGCCAGTTTATTTCTGTATACC -3'
(R):5'- CTTTCCCTTTAGGATCCAGTGG -3'

Sequencing Primer
(F):5'- GTATACCTTAGAGAAAACACAGTAGC -3'
(R):5'- CTGCTGTGCTTCGAGTCTCG -3'

Posted On

2015-04-06