Mutagenetix > Incidental Mutations

Incidental Mutation 'R5638:Ppwd1'

440506

Institutional Source

Beutler Lab

Gene Symbol

Ppwd1

Ensembl Gene

ENSMUSG00000021713

Gene Name

peptidylprolyl isomerase domain and WD repeat containing 1

Synonyms

4632422M10Rik, A330090G21Rik

MMRRC Submission

043168-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5638 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104220398 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 203 (I203T)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022226]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: I203T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: I203T

Domain	Start	End	E-Value	Type
WD40	80	117	2.96e-2	SMART
WD40	122	161	8.49e-3	SMART
Blast:WD40	164	207	9e-6	BLAST
WD40	211	251	2.76e0	SMART
WD40	269	308	1.4e-3	SMART
Blast:WD40	343	382	2e-6	BLAST
Blast:WD40	433	460	3e-7	BLAST
Pfam:Pro_isomerase	493	645	1.9e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225798

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	G	A	10: 76,452,895	A96T	probably benign	Het
A930018M24Rik	T	C	14: 50,896,957	D76G	possibly damaging	Het
Adamtsl3	A	T	7: 82,611,750	R1631W	probably damaging	Het
Alg5	C	T	3: 54,738,833	H40Y	probably benign	Het
B3galt1	T	C	2: 68,118,751	L270P	probably damaging	Het
Ceacam3	A	G	7: 17,159,935	Y457C	probably damaging	Het
Cenpa	A	T	5: 30,673,392	R124W	probably damaging	Het
Cfap44	A	G	16: 44,455,531	T1385A	possibly damaging	Het
Chd9	A	T	8: 91,011,450	H1570L	possibly damaging	Het
Cmtm4	T	C	8: 104,357,724	I113V	probably benign	Het
Dmxl1	T	C	18: 49,891,626	I1789T	possibly damaging	Het
Dpf3	G	A	12: 83,324,940	R174W	probably damaging	Het
Dusp26	T	C	8: 31,094,141	L92P	probably damaging	Het
Fndc7	T	A	3: 108,862,892	T659S	possibly damaging	Het
Fry	A	G	5: 150,359,081	H357R	possibly damaging	Het
G0s2	A	T	1: 193,272,551	L75H	probably damaging	Het
Gm10184	T	C	17: 89,910,207	E37G	probably damaging	Het
Gm5493	A	G	17: 22,750,092	T82A	probably benign	Het
Herc2	T	C	7: 56,204,416	V3690A	probably benign	Het
Igf2bp3	C	A	6: 49,087,800	V537F	probably damaging	Het
Kntc1	C	T	5: 123,818,475	R2101W	possibly damaging	Het
Mrgpra6	G	T	7: 47,185,909	P255T	probably damaging	Het
Ncor2	A	G	5: 125,048,300	V229A	probably benign	Het
Nos1ap	T	A	1: 170,349,399	K145M	probably damaging	Het
Olfr800	T	A	10: 129,660,100	I98K	possibly damaging	Het
Olfr836	T	A	9: 19,121,380	C142S	probably benign	Het
Ppt2	C	A	17: 34,625,849	M140I	probably benign	Het
Prpf6	A	G	2: 181,645,588	T589A	probably benign	Het
Psd4	T	C	2: 24,397,415	L453P	probably benign	Het
Ptpn14	A	G	1: 189,786,841	T23A	probably damaging	Het
Rxrb	T	C	17: 34,037,407	L374P	probably damaging	Het
Scaf4	T	C	16: 90,244,310	E710G	unknown	Het
Sik1	C	T	17: 31,850,828	V216I	probably damaging	Het
Skint8	C	A	4: 111,950,193	L359M	probably damaging	Het
Slc30a5	T	A	13: 100,813,872	K236*	probably null	Het
Slc38a4	A	C	15: 97,012,990	S135A	probably damaging	Het
Slc9a1	T	A	4: 133,412,260	V263D	probably damaging	Het
Socs2	T	C	10: 95,392,883	I168M	unknown	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Sspo	T	C	6: 48,492,891	S4508P	possibly damaging	Het
Stat5b	C	A	11: 100,784,254	E710*	probably null	Het
Stip1	G	A	19: 7,032,515	P213L	probably damaging	Het
Tarbp1	A	T	8: 126,450,686	L749Q	probably damaging	Het
Thsd7b	T	G	1: 129,595,533	S24R	probably benign	Het
Upp2	T	C	2: 58,790,095	V293A	probably damaging	Het
Vmn2r65	C	T	7: 84,940,839	C623Y	probably damaging	Het
Vps54	T	C	11: 21,308,799	V742A	probably damaging	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ppwd1	APN	13	104217143	missense	probably damaging	1.00
IGL01582:Ppwd1	APN	13	104213704	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104220464	missense	probably benign	0.01
IGL01771:Ppwd1	APN	13	104217116	missense	probably damaging	1.00
IGL02414:Ppwd1	APN	13	104223137	missense	probably benign
IGL02803:Ppwd1	APN	13	104213684	missense	probably benign	0.00
IGL02873:Ppwd1	APN	13	104209753	missense	probably damaging	1.00
F5770:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98
R0462:Ppwd1	UTSW	13	104222960	critical splice acceptor site	probably null
R1638:Ppwd1	UTSW	13	104220263	missense	probably damaging	1.00
R2211:Ppwd1	UTSW	13	104207142	missense	probably benign	0.26
R2226:Ppwd1	UTSW	13	104217245	missense	probably damaging	1.00
R2299:Ppwd1	UTSW	13	104220063	missense	probably benign
R2353:Ppwd1	UTSW	13	104213582	missense	probably benign
R2382:Ppwd1	UTSW	13	104207113	missense	probably damaging	1.00
R3123:Ppwd1	UTSW	13	104213690	missense	possibly damaging	0.90
R4521:Ppwd1	UTSW	13	104209659	missense	probably benign	0.16
R4972:Ppwd1	UTSW	13	104220108	missense	probably benign	0.00
R5125:Ppwd1	UTSW	13	104220435	missense	probably benign	0.14
R5178:Ppwd1	UTSW	13	104220435	missense	probably benign	0.14
R5468:Ppwd1	UTSW	13	104225444	missense	possibly damaging	0.52
R6748:Ppwd1	UTSW	13	104208030	nonsense	probably null
R7095:Ppwd1	UTSW	13	104205626	missense	probably benign	0.21
R7201:Ppwd1	UTSW	13	104207172	missense	probably damaging	1.00
R7206:Ppwd1	UTSW	13	104213598	missense	probably damaging	0.99
R7664:Ppwd1	UTSW	13	104220290	missense	probably damaging	1.00
R7746:Ppwd1	UTSW	13	104217206	missense	probably damaging	1.00
V7580:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104220237	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGTCTGTGTCTGTCTTATACTCCCAG -3'
(R):5'- TGCTAAAGGTAGGCCAGAGC -3'

Sequencing Primer
(F):5'- CCCAGTTCACATTTTTAGGGAAC -3'
(R):5'- CTAAAGGTAGGCCAGAGCATTTTG -3'

Posted On

2016-11-08