Mutagenetix > Incidental Mutations

Incidental Mutation 'R5443:Ppig'

482211

Institutional Source

Beutler Lab

Gene Symbol

Ppig

Ensembl Gene

ENSMUSG00000042133

Gene Name

peptidyl-prolyl isomerase G (cyclophilin G)

Synonyms

SRCyp, B230312B02Rik

MMRRC Submission

043008-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69722545-69754012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69734291 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 97 (D97V)

Ref Sequence

ENSEMBL: ENSMUSP00000114570 (fasta)

Gene Model

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

AlphaFold

A2AR02

Predicted Effect

probably damaging
Transcript: ENSMUST00000040915
AA Change: D97V

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

SMART Domains

Protein: ENSMUSP00000045945
Gene: ENSMUSG00000042133
AA Change: D97V

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: D97V

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

SMART Domains

Protein: ENSMUSP00000088370
Gene: ENSMUSG00000042133
AA Change: D97V

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 damaging
Transcript: ENSMUST00000144652
AA Change: D97V

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

SMART Domains

Protein: ENSMUSP00000114570
Gene: ENSMUSG00000042133
AA Change: D97V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146234

Meta Mutation Damage Score

0.9727

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	G	T	16: 90,927,211	Q168K	probably benign	Het
Akap12	A	T	10: 4,355,576	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,437,971		probably null	Het
Aox4	A	G	1: 58,233,992		probably null	Het
Arhgap39	G	A	15: 76,797,925		probably benign	Het
AW551984	T	C	9: 39,598,029	E272G	possibly damaging	Het
C1qc	G	A	4: 136,892,493		probably benign	Het
Carhsp1	C	A	16: 8,664,339	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,849	V57L	probably benign	Het
Clec3a	A	G	8: 114,418,153	Y23C	probably benign	Het
Crebrf	G	C	17: 26,742,354	V150L	probably damaging	Het
Ddx41	G	T	13: 55,535,291	A201E	probably benign	Het
Doc2b	T	C	11: 75,780,095	K237E	probably damaging	Het
Dst	T	C	1: 34,228,539	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,620,862	I129T	probably damaging	Het
Epg5	A	G	18: 78,027,497	E2329G	possibly damaging	Het
Esrrg	A	C	1: 188,043,425	T27P	possibly damaging	Het
Fah	T	A	7: 84,592,396	R316W	probably damaging	Het
Fat4	T	C	3: 39,010,370	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,070,756	V804A	probably damaging	Het
Gm1322	G	A	2: 67,184,668		noncoding transcript	Het
Gm5114	T	A	7: 39,408,865	K443N	probably benign	Het
Gnai2	T	C	9: 107,620,187	I3V	probably damaging	Het
Gp2	G	A	7: 119,454,598	P47S	possibly damaging	Het
I830127L07Rik	A	T	15: 75,133,719		noncoding transcript	Het
Klf15	C	A	6: 90,467,360	Q306K	possibly damaging	Het
Necab2	A	T	8: 119,468,293	M295L	probably benign	Het
Nrg1	A	T	8: 31,849,320	Y208N	probably damaging	Het
Nup88	A	T	11: 70,958,430	Y232*	probably null	Het
Oacyl	A	G	18: 65,750,182	R611G	probably benign	Het
Oasl1	T	C	5: 114,936,070		probably null	Het
Olfr1061	A	C	2: 86,413,593	I153R	possibly damaging	Het
Olfr138	T	A	17: 38,275,014	M81K	probably damaging	Het
Olfr1384	G	T	11: 49,514,435	G266C	probably damaging	Het
Olfr652	T	C	7: 104,564,376	Y52H	probably benign	Het
Pate4	A	C	9: 35,607,874	S66A	possibly damaging	Het
Pigl	T	A	11: 62,458,483	C8*	probably null	Het
Plg	G	A	17: 12,382,183	A51T	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r16a	A	G	15: 76,694,646	K517E	possibly damaging	Het
Prr16	A	T	18: 51,303,153	S235C	probably damaging	Het
Psmd1	G	A	1: 86,090,183	R572H	probably damaging	Het
Sbf2	T	C	7: 110,377,928		probably benign	Het
Scrt2	A	T	2: 152,082,123	Y25F	probably benign	Het
Sema6d	A	T	2: 124,656,836	H222L	probably damaging	Het
Sept2	A	G	1: 93,497,452	N110S	possibly damaging	Het
Shpk	G	A	11: 73,222,781	G340D	possibly damaging	Het
Smg5	T	A	3: 88,354,589	L723H	probably damaging	Het
Sp110	C	T	1: 85,589,120	E219K	possibly damaging	Het
Spo11	T	C	2: 172,989,359		probably benign	Het
Srarp	T	A	4: 141,436,077		probably null	Het
Tbc1d5	A	G	17: 50,735,967	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,126,195	Y109F	probably damaging	Het
Tmem57	A	T	4: 134,833,308	C121*	probably null	Het
Tpcn2	A	T	7: 145,255,472	M699K	possibly damaging	Het
Trim34a	T	C	7: 104,260,213	F289S	possibly damaging	Het
Trim39	T	C	17: 36,260,753	H371R	probably damaging	Het
Usp48	T	A	4: 137,621,221	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,280,048	F677L	probably benign	Het
Zer1	C	T	2: 30,110,996	G138S	probably damaging	Het
Zfp612	A	G	8: 110,089,595	K439R	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
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
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'- GTGTTTGACAGTAAAGAACACATCC -3'
(R):5'- AGCAAGCTCTATCACCTGAGAC -3'

Sequencing Primer
(F):5'- GTTTAAGTGCAAGACCCTGTC -3'
(R):5'- GCAAGCTCTATCACCTGAGACTTTAG -3'

Posted On

2017-07-11