Mutagenetix > Incidental Mutation

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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) 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 (GRCm38)	T1264I	probably damaging	Het
Aadac	T	A	3: 60,039,565 (GRCm38)	V228E	probably benign	Het
Abca4	A	T	3: 122,137,625 (GRCm38)	R1436W	probably benign	Het
Abo	A	G	2: 26,848,275 (GRCm38)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm38)	R269S	probably benign	Het
Adap2	T	C	11: 80,155,116 (GRCm38)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,776,073 (GRCm38)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,655,495 (GRCm38)	S149G	probably benign	Het
Ank	T	C	15: 27,591,502 (GRCm38)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,450,848 (GRCm38)		probably null	Het
Atf7	A	C	15: 102,553,851 (GRCm38)	V112G	probably damaging	Het
Brca2	A	G	5: 150,541,517 (GRCm38)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,474,109 (GRCm38)		probably benign	Het
Bsn	C	A	9: 108,139,453 (GRCm38)	E120*	probably null	Het
Cacna1g	T	G	11: 94,430,224 (GRCm38)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm38)		probably null	Het
Cd163	A	G	6: 124,320,538 (GRCm38)	D881G	probably benign	Het
Cep295	G	A	9: 15,333,323 (GRCm38)	P1279L	probably benign	Het
Cic	G	A	7: 25,271,989 (GRCm38)	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 34,801,886 (GRCm38)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,547,758 (GRCm38)	I154N	probably benign	Het
Dbf4	A	G	5: 8,397,764 (GRCm38)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,285,266 (GRCm38)	V1673M	probably benign	Het
Dctd	T	A	8: 48,137,350 (GRCm38)	C119S	probably damaging	Het
Dock1	A	G	7: 135,115,336 (GRCm38)	T1234A	probably damaging	Het
Eya4	A	T	10: 23,123,907 (GRCm38)	M386K		Het
Fbxw19	T	A	9: 109,486,033 (GRCm38)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm38)	S636T	probably benign	Het
Glb1l	A	T	1: 75,201,039 (GRCm38)	Y412N	probably damaging	Het
Gm11639	T	A	11: 104,730,429 (GRCm38)		probably null	Het
Gnb5	T	A	9: 75,311,414 (GRCm38)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,887,741 (GRCm38)	V3M	unknown	Het
Hivep2	A	G	10: 14,131,761 (GRCm38)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,544,373 (GRCm38)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,714,925 (GRCm38)	I524F	possibly damaging	Het
Mettl17	G	A	14: 51,888,034 (GRCm38)	G198D	probably damaging	Het
Mga	T	A	2: 119,935,518 (GRCm38)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,150,376 (GRCm38)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,089,347 (GRCm38)	M392K	probably benign	Het
Myf5	G	A	10: 107,485,666 (GRCm38)	T89I	probably damaging	Het
Nup214	T	A	2: 32,047,511 (GRCm38)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 174,050,763 (GRCm38)	L130P		Het
Or1ad6	T	A	11: 50,969,786 (GRCm38)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,630,044 (GRCm38)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,949,236 (GRCm38)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,868,035 (GRCm38)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,984,386 (GRCm38)	M199V	probably benign	Het
Otog	A	T	7: 46,267,297 (GRCm38)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,233,794 (GRCm38)	V237G	possibly damaging	Het
Pigs	T	C	11: 78,339,387 (GRCm38)	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,430,330 (GRCm38)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm38)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,526,775 (GRCm38)	S343R	probably benign	Het
Pyy	C	T	11: 102,107,285 (GRCm38)	G23E	probably damaging	Het
Ripor3	T	A	2: 167,989,318 (GRCm38)	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,917,702 (GRCm38)	S448P	probably benign	Het
Sash1	G	A	10: 8,762,230 (GRCm38)		probably benign	Het
Sbf2	T	C	7: 110,441,495 (GRCm38)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,944,852 (GRCm38)	C1252Y	probably benign	Het
Tenm2	A	T	11: 36,069,419 (GRCm38)	L1027Q	probably damaging	Het
Tep1	A	G	14: 50,837,180 (GRCm38)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,300,918 (GRCm38)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,786,875 (GRCm38)		probably null	Het
Tmco1	C	A	1: 167,314,131 (GRCm38)	T69K		Het
Topaz1	T	A	9: 122,797,663 (GRCm38)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,460,032 (GRCm38)	Y668H	unknown	Het
Uri1	A	T	7: 37,969,606 (GRCm38)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,577,917 (GRCm38)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,544,919 (GRCm38)	Y61H		Het
Zfp541	A	T	7: 16,072,214 (GRCm38)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,454,588 (GRCm38)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,275,449 (GRCm38)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,864,827 (GRCm38)	N1027K	possibly damaging	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ppwd1	APN	13	104,217,143 (GRCm38)	missense	probably damaging	1.00
IGL01582:Ppwd1	APN	13	104,213,704 (GRCm38)	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104,220,464 (GRCm38)	missense	probably benign	0.01
IGL01771:Ppwd1	APN	13	104,217,116 (GRCm38)	missense	probably damaging	1.00
IGL02414:Ppwd1	APN	13	104,223,137 (GRCm38)	missense	probably benign
IGL02803:Ppwd1	APN	13	104,213,684 (GRCm38)	missense	probably benign	0.00
IGL02873:Ppwd1	APN	13	104,209,753 (GRCm38)	missense	probably damaging	1.00
F5770:Ppwd1	UTSW	13	104,220,237 (GRCm38)	missense	probably damaging	0.98
R0462:Ppwd1	UTSW	13	104,222,960 (GRCm38)	critical splice acceptor site	probably null
R1638:Ppwd1	UTSW	13	104,220,263 (GRCm38)	missense	probably damaging	1.00
R2211:Ppwd1	UTSW	13	104,207,142 (GRCm38)	missense	probably benign	0.26
R2226:Ppwd1	UTSW	13	104,217,245 (GRCm38)	missense	probably damaging	1.00
R2299:Ppwd1	UTSW	13	104,220,063 (GRCm38)	missense	probably benign
R2353:Ppwd1	UTSW	13	104,213,582 (GRCm38)	missense	probably benign
R2382:Ppwd1	UTSW	13	104,207,113 (GRCm38)	missense	probably damaging	1.00
R3123:Ppwd1	UTSW	13	104,213,690 (GRCm38)	missense	possibly damaging	0.90
R4521:Ppwd1	UTSW	13	104,209,659 (GRCm38)	missense	probably benign	0.16
R4972:Ppwd1	UTSW	13	104,220,108 (GRCm38)	missense	probably benign	0.00
R5125:Ppwd1	UTSW	13	104,220,435 (GRCm38)	missense	probably benign	0.14
R5178:Ppwd1	UTSW	13	104,220,435 (GRCm38)	missense	probably benign	0.14
R5468:Ppwd1	UTSW	13	104,225,444 (GRCm38)	missense	possibly damaging	0.52
R5638:Ppwd1	UTSW	13	104,220,398 (GRCm38)	missense	probably damaging	1.00
R6748:Ppwd1	UTSW	13	104,208,030 (GRCm38)	nonsense	probably null
R7095:Ppwd1	UTSW	13	104,205,626 (GRCm38)	missense	probably benign	0.21
R7201:Ppwd1	UTSW	13	104,207,172 (GRCm38)	missense	probably damaging	1.00
R7206:Ppwd1	UTSW	13	104,213,598 (GRCm38)	missense	probably damaging	0.99
R7664:Ppwd1	UTSW	13	104,220,290 (GRCm38)	missense	probably damaging	1.00
R7746:Ppwd1	UTSW	13	104,217,206 (GRCm38)	missense	probably damaging	1.00
R9259:Ppwd1	UTSW	13	104,223,104 (GRCm38)	missense	probably damaging	1.00
R9354:Ppwd1	UTSW	13	104,205,572 (GRCm38)	missense	probably benign	0.00
V7580:Ppwd1	UTSW	13	104,220,237 (GRCm38)	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104,220,237 (GRCm38)	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