Mutagenetix > Incidental Mutations

Incidental Mutation 'R2382:Ppwd1'

247581

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

040357-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R2382 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104207113 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 595 (T595A)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022225] [ENSMUST00000022226] [ENSMUST00000069187]

Predicted Effect

probably benign
Transcript: ENSMUST00000022225

SMART Domains

Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	1.32e-4	SMART
BBC	226	370	2.89e-41	SMART
ARF	387	569	1.15e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: T595A

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

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: T595A

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

probably benign
Transcript: ENSMUST00000069187

SMART Domains

Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	5.95e-3	SMART
BBC	182	309	8.07e-22	SMART
ARF	326	508	1.15e-78	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Aarsd1	T	A	11: 101,414,078	I64F	probably damaging	Het
Agrn	T	A	4: 156,176,516	D574V	probably damaging	Het
Atg4b	T	C	1: 93,784,842	C16R	probably damaging	Het
Ccdc141	A	T	2: 77,011,542	L1515Q	probably damaging	Het
Ccdc141	A	T	2: 77,074,998	V368E	probably benign	Het
Clk1	A	T	1: 58,421,289	S61T	probably benign	Het
Dhx38	A	T	8: 109,556,140	D631E	probably damaging	Het
Dner	C	G	1: 84,370,823	E719Q	probably damaging	Het
E030025P04Rik	G	A	11: 109,144,054	Q3*	probably null	Het
Eif4g2	T	A	7: 111,075,046	T613S	probably benign	Het
Fn1	C	G	1: 71,648,119	G193A	probably damaging	Het
Gls2	A	G	10: 128,203,842	E286G	probably damaging	Het
Gm21286	A	G	4: 60,838,284		noncoding transcript	Het
Gm6614	G	A	6: 141,990,480	S293F	probably benign	Het
Gm813	T	C	16: 58,615,876		probably null	Het
Hoxa13	A	T	6: 52,259,145	V304D	probably damaging	Het
Hpse2	A	T	19: 42,931,622	M346K	probably benign	Het
Igkv1-99	A	T	6: 68,542,497		probably benign	Het
Kcnq2	A	G	2: 181,112,107	Y237H	probably damaging	Het
Kmt2a	T	A	9: 44,820,910		probably benign	Het
Kntc1	A	G	5: 123,760,348	D180G	probably damaging	Het
Macf1	G	A	4: 123,374,832	T4682M	probably damaging	Het
Mfsd6	T	A	1: 52,708,410	H432L	probably benign	Het
Mgat5b	T	A	11: 116,919,496	D7E	probably damaging	Het
Msh6	G	A	17: 87,984,731	V305I	probably benign	Het
Notch1	A	T	2: 26,473,781	H880Q	probably benign	Het
Olfr117	A	C	17: 37,659,931	V134G	probably benign	Het
Olfr1353	G	A	10: 78,970,156	C169Y	probably damaging	Het
Olfr57	A	T	10: 79,035,134	I113F	possibly damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Pnliprp2	A	G	19: 58,768,630	N308S	probably benign	Het
Prdm13	T	C	4: 21,678,277	T738A	possibly damaging	Het
Rab11fip3	T	A	17: 25,990,867	K1062*	probably null	Het
Reep3	A	T	10: 67,096,790	V11E	possibly damaging	Het
Slco3a1	T	C	7: 74,346,776	D294G	probably benign	Het
Sycp2	A	G	2: 178,378,018		probably null	Het
Zfp292	A	G	4: 34,806,426	V2206A	possibly 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
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
R5638:Ppwd1	UTSW	13	104220398	missense	probably damaging	1.00
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'- CACATTGCCTACTAGACAGAAATAGTG -3'
(R):5'- AGAGATAACTGCACTTCATATACCC -3'

Sequencing Primer
(F):5'- GCCTACTAGACAGAAATAGTGTTTTC -3'
(R):5'- ATACTTTCTGTTACCAGGGCTTCATG -3'

Posted On

2014-11-11