Mutagenetix > Incidental Mutation

Incidental Mutation 'R1396:Ppig'

162625

Institutional Source

Beutler Lab

Gene Symbol

Ppig

Ensembl Gene

ENSMUSG00000042133

Gene Name

peptidyl-prolyl isomerase G (cyclophilin G)

Synonyms

SRCyp, B230312B02Rik

MMRRC Submission

039458-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R1396 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69722545-69754012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69749018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 357 (P357S)

Ref Sequence

ENSEMBL: ENSMUSP00000088370 (fasta)

Gene Model

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

AlphaFold

A2AR02

Predicted Effect

unknown
Transcript: ENSMUST00000040915
AA Change: P357S

SMART Domains

Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: P357S

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: P357S

SMART Domains

Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: P357S

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	A	G	14: 95,882,551	N248S	probably benign	Het
4930486L24Rik	G	A	13: 60,853,243	P160S	probably benign	Het
Adamts12	G	T	15: 11,311,472	D1272Y	probably benign	Het
Akr1c20	A	T	13: 4,507,727	V267D	probably damaging	Het
C1s1	A	G	6: 124,531,051	S660P	probably damaging	Het
Ccdc40	A	G	11: 119,231,803	T144A	possibly damaging	Het
Cdk20	T	C	13: 64,437,403	I167T	probably damaging	Het
Chd6	A	G	2: 160,983,103	L1212S	probably damaging	Het
Clock	G	C	5: 76,266,802	D15E	probably benign	Het
Clstn2	A	G	9: 97,461,393	V667A	probably benign	Het
Cr2	A	T	1: 195,169,253		probably null	Het
Cyp2e1	A	G	7: 140,773,079	D343G	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Etf1	G	A	18: 34,908,167	T298I	possibly damaging	Het
Gm5431	T	C	11: 48,895,434		probably benign	Het
Gss	G	A	2: 155,567,721	T265I	probably damaging	Het
Heatr1	C	T	13: 12,406,046	S406L	possibly damaging	Het
Hgsnat	C	A	8: 25,957,335	M310I	possibly damaging	Het
Inpp5b	G	A	4: 124,789,080	R598H	probably damaging	Het
Ints2	G	T	11: 86,249,248	Q253K	probably damaging	Het
Kng1	A	G	16: 23,078,980	M377V	probably benign	Het
Krt72	C	T	15: 101,786,005		probably null	Het
Lemd2	G	C	17: 27,190,732	R482G	probably damaging	Het
Lrpprc	C	T	17: 84,726,303	D1049N	possibly damaging	Het
Lrrc49	A	T	9: 60,680,527	H117Q	probably damaging	Het
Mcm6	A	T	1: 128,351,476	F191Y	probably damaging	Het
Mecom	T	C	3: 29,979,800	T252A	possibly damaging	Het
Mgat4e	T	C	1: 134,541,533	T258A	probably benign	Het
Mpeg1	A	G	19: 12,462,804	N542S	probably damaging	Het
Nln	C	T	13: 104,061,753	V184I	probably benign	Het
Nova1	A	C	12: 46,816,893	F91L	unknown	Het
Polk	T	C	13: 96,484,208	I516V	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rasal2	A	T	1: 157,164,666	H552Q	probably damaging	Het
Rnf41	G	A	10: 128,435,571	E117K	probably benign	Het
Sbk3	A	G	7: 4,967,453	Y306H	possibly damaging	Het
Senp1	A	G	15: 98,076,554	S126P	probably benign	Het
Sfr1	A	G	19: 47,733,690	K182E	probably benign	Het
Slc25a4	C	A	8: 46,209,288	R111L	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Stard4	A	T	18: 33,206,210	N80K	probably damaging	Het
Tbk1	G	A	10: 121,571,916	T104M	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tmem102	A	T	11: 69,804,370	W259R	probably damaging	Het
Tnk1	A	T	11: 69,853,136	C466S	probably benign	Het
Tspoap1	A	C	11: 87,766,120	Q307P	probably damaging	Het
Ugt2b35	A	G	5: 87,011,530	N528D	possibly damaging	Het
Usp6nl	A	G	2: 6,426,998		probably null	Het
Vmn1r203	C	T	13: 22,524,508	T153M	probably benign	Het
Vmn1r89	T	A	7: 13,220,011	S157T	probably damaging	Het
Vmn2r103	A	T	17: 19,792,968	Y117F	probably benign	Het
Vmn2r116	A	C	17: 23,386,141	M143L	probably benign	Het
Vmn2r62	A	T	7: 42,764,837	D727E	probably damaging	Het
Vps13c	A	G	9: 67,955,022	I2974V	probably benign	Het
Wrn	C	T	8: 33,268,819	G769D	probably damaging	Het
Zhx3	T	A	2: 160,781,020	H409L	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
R1593:Ppig	UTSW	2	69749081	missense	unknown
R1629:Ppig	UTSW	2	69735873	missense	probably damaging	1.00
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'- TGATGTATGCTAACCGCGTGTTCTT -3'
(R):5'- GCTGTGCTTCGAGTCTCGCT -3'

Sequencing Primer
(F):5'- GCTAACCGCGTGTTCTTATCTC -3'
(R):5'- AATGCTACTGTGTTTTCTCTAAGG -3'

Posted On

2014-03-17