Mutagenetix > Incidental Mutations

Incidental Mutation 'R9408:Ppwd1'

711684

Institutional Source

Beutler Lab

Gene Symbol

Ppwd1

Ensembl Gene

ENSMUSG00000021713

Gene Name

peptidylprolyl isomerase domain and WD repeat containing 1

Synonyms

4632422M10Rik, A330090G21Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R9408 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104209647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 500 (M500T)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022226
AA Change: M500T

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: M500T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,545,067	T1264I	probably damaging	Het
Aadac	T	A	3: 60,039,565	V228E	probably benign	Het
Abca4	A	T	3: 122,137,625	R1436W	probably benign	Het
Abo	A	G	2: 26,848,275	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773	R269S	probably benign	Het
Adap2	T	C	11: 80,155,116	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,776,073	A803S	possibly damaging	Het
Ak6	A	G	13: 100,655,495	S149G	probably benign	Het
Ank	T	C	15: 27,591,502	V444A	probably damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Atf7	A	C	15: 102,553,851	V112G	probably damaging	Het
Brca2	A	G	5: 150,541,517	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,474,109		probably benign	Het
Bsn	C	A	9: 108,139,453	E120*	probably null	Het
Cacna1g	T	G	11: 94,430,224	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776		probably null	Het
Cd163	A	G	6: 124,320,538	D881G	probably benign	Het
Cep295	G	A	9: 15,333,323	P1279L	probably benign	Het
Cic	G	A	7: 25,271,989	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 34,801,886	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,547,758	I154N	probably benign	Het
Dbf4	A	G	5: 8,397,764	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,285,266	V1673M	probably benign	Het
Dctd	T	A	8: 48,137,350	C119S	probably damaging	Het
Dock1	A	G	7: 135,115,336	T1234A	probably damaging	Het
Eya4	A	T	10: 23,123,907	M386K		Het
Fbxw19	T	A	9: 109,486,033	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182	S636T	probably benign	Het
Glb1l	A	T	1: 75,201,039	Y412N	probably damaging	Het
Gm11639	T	A	11: 104,730,429		probably null	Het
Gm9833	T	A	3: 10,089,347	M392K	probably benign	Het
Gnb5	T	A	9: 75,311,414	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,887,741	V3M	unknown	Het
Hivep2	A	G	10: 14,131,761	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,544,373	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,714,925	I524F	possibly damaging	Het
Mettl17	G	A	14: 51,888,034	G198D	probably damaging	Het
Mga	T	A	2: 119,935,518	I1421N	possibly damaging	Het
Myb	T	A	10: 21,150,376	Q231L	probably benign	Het
Myf5	G	A	10: 107,485,666	T89I	probably damaging	Het
Nup214	T	A	2: 32,047,511	L1999Q	probably damaging	Het
Olfr1152	G	A	2: 87,868,035	G15R	probably damaging	Het
Olfr1249	A	G	2: 89,630,044	Y285H	probably damaging	Het
Olfr1352	A	G	10: 78,984,386	M199V	probably benign	Het
Olfr1378	T	A	11: 50,969,786	L256Q	probably damaging	Het
Olfr432	T	C	1: 174,050,763	L130P		Het
Olfr574	A	T	7: 102,949,236	H257L	probably damaging	Het
Otog	A	T	7: 46,267,297	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,233,794	V237G	possibly damaging	Het
Pigs	T	C	11: 78,339,387	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,430,330	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488	G157V	probably damaging	Het
Poglut1	G	T	16: 38,526,775	S343R	probably benign	Het
Pyy	C	T	11: 102,107,285	G23E	probably damaging	Het
Ripor3	T	A	2: 167,989,318	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,917,702	S448P	probably benign	Het
Sash1	G	A	10: 8,762,230		probably benign	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,944,852	C1252Y	probably benign	Het
Tenm2	A	T	11: 36,069,419	L1027Q	probably damaging	Het
Tep1	A	G	14: 50,837,180	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,300,918	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,786,875		probably null	Het
Tmco1	C	A	1: 167,314,131	T69K		Het
Topaz1	T	A	9: 122,797,663	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,460,032	Y668H	unknown	Het
Uri1	A	T	7: 37,969,606	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,577,917	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,544,919	Y61H		Het
Zfp541	A	T	7: 16,072,214	E91D	probably damaging	Het
Zfp946	A	G	17: 22,454,588	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,275,449	L194P	probably damaging	Het
Zzef1	T	A	11: 72,864,827	N1027K	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
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
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
R9259:Ppwd1	UTSW	13	104223104	missense	probably damaging	1.00
R9354:Ppwd1	UTSW	13	104205572	missense	probably benign	0.00
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'- TTTGTCCTCACAATAGGCTGC -3'
(R):5'- GGTAAGTTGTTTAATTCAGCTGCTC -3'

Sequencing Primer
(F):5'- GTCCTCACAATAGGCTGCATTAAAAG -3'
(R):5'- GTTTAATTCAGCTGCTCACATTTTC -3'

Posted On

2022-05-16