Mutagenetix > Incidental Mutations

Incidental Mutation 'R3123:Ppwd1'

264170

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

040596-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R3123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104213690 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 396 (E396K)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022226
AA Change: E396K

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: E396K

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

Meta Mutation Damage Score

0.358

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,358,580	I646V	possibly damaging	Het
Atp4a	G	A	7: 30,720,225	R671Q	probably benign	Het
Caskin2	T	C	11: 115,804,797	D246G	probably damaging	Het
Csn1s2b	T	C	5: 87,819,058		probably benign	Het
Ctsa	T	A	2: 164,835,232		probably null	Het
Cyp2j8	G	A	4: 96,501,213		probably benign	Het
Dach2	T	C	X: 113,819,967	I417T	possibly damaging	Het
Dhx9	T	C	1: 153,465,706	K599E	possibly damaging	Het
Duox2	A	G	2: 122,281,073		probably benign	Het
F2rl3	T	C	8: 72,763,212	S356P	probably damaging	Het
Fem1b	T	C	9: 62,796,554	I475V	probably benign	Het
Glra3	A	G	8: 56,125,209	R434G	possibly damaging	Het
Gpr75	T	A	11: 30,891,709	S205T	possibly damaging	Het
Hsd17b12	C	T	2: 94,033,958	R268Q	probably benign	Het
Htt	T	C	5: 34,804,531	S287P	probably benign	Het
Ifi27l2b	T	C	12: 103,451,335	T198A	unknown	Het
Kdm5d	T	C	Y: 900,558	V201A	possibly damaging	Het
Khdrbs2	C	A	1: 32,519,777	R408L	probably damaging	Het
Lonp1	A	G	17: 56,626,488	I129T	possibly damaging	Het
Macc1	T	C	12: 119,447,633	F712S	probably damaging	Het
Mcpt8	A	T	14: 56,083,941	I22K	probably damaging	Het
Nop2	G	A	6: 125,132,201		probably benign	Het
Olfr1115	A	T	2: 87,252,791	T285S	possibly damaging	Het
Olfr131	G	A	17: 38,082,012		probably null	Het
Olfr166	A	G	16: 19,487,015	Y59C	probably damaging	Het
Pet2	A	T	X: 89,404,721	Y601N	probably benign	Het
Pkd1l1	T	A	11: 8,973,021	D82V	unknown	Het
Polr2a	A	T	11: 69,735,710	S1566T	possibly damaging	Het
Prr30	A	G	14: 101,198,989	S46P	probably benign	Het
Pthlh	A	T	6: 147,263,291	V27E	probably damaging	Het
Ptpn4	A	G	1: 119,765,423		probably null	Het
Rad18	A	T	6: 112,681,346	D199E	probably benign	Het
Ralgps1	T	C	2: 33,158,956	T314A	possibly damaging	Het
Rbm27	A	G	18: 42,327,165	E764G	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Taf15	G	A	11: 83,504,328		probably null	Het
Tas2r140	T	A	6: 133,055,241	I185L	probably benign	Het
Tgfbr2	G	A	9: 116,110,069	T230M	possibly damaging	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 98,867,129		probably null	Het
Togaram1	G	T	12: 64,966,344	R123L	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim9	C	T	12: 70,248,393	G648R	probably damaging	Het
Upf1	A	G	8: 70,337,483		probably benign	Het
Vmn2r109	C	T	17: 20,540,986	C703Y	probably damaging	Het
Zfp574	G	T	7: 25,081,601	A683S	possibly damaging	Het
Zfp777	A	G	6: 48,029,116		probably benign	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
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
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'- AATGTAATGGCCATCTCTCCAAGAG -3'
(R):5'- AGTTTGCCCTGTGGATCCTG -3'

Sequencing Primer
(F):5'- GGCCATCTCTCCAAGAGGATCAC -3'
(R):5'- CTGTGGATCCTGTCAAAAGCACTG -3'

Posted On

2015-02-05