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

104341632-104365351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104346155 bp (GRCm39)

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: 128,522,030 (GRCm39)	T1264I	probably damaging	Het
Aadac	T	A	3: 59,946,986 (GRCm39)	V228E	probably benign	Het
Abca4	A	T	3: 121,931,274 (GRCm39)	R1436W	probably benign	Het
Abo	A	G	2: 26,738,287 (GRCm39)	L39S	probably benign	Het
Acnat1	T	A	4: 49,447,773 (GRCm39)	R269S	probably benign	Het
Adap2	T	C	11: 80,045,942 (GRCm39)	V74A	probably damaging	Het
Ahctf1	C	A	1: 179,603,638 (GRCm39)	A803S	possibly damaging	Het
Ak6	A	G	13: 100,792,003 (GRCm39)	S149G	probably benign	Het
Ank	T	C	15: 27,591,588 (GRCm39)	V444A	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atf7	A	C	15: 102,462,286 (GRCm39)	V112G	probably damaging	Het
Brca2	A	G	5: 150,464,982 (GRCm39)	Y1582C	probably damaging	Het
Bricd5	G	T	17: 24,693,083 (GRCm39)		probably benign	Het
Bsn	C	A	9: 108,016,652 (GRCm39)	E120*	probably null	Het
Cacna1g	T	G	11: 94,321,050 (GRCm39)	N1348T	probably damaging	Het
Ccnc	T	G	4: 21,746,776 (GRCm39)		probably null	Het
Cd163	A	G	6: 124,297,497 (GRCm39)	D881G	probably benign	Het
Cep295	G	A	9: 15,244,619 (GRCm39)	P1279L	probably benign	Het
Cic	G	A	7: 24,971,414 (GRCm39)	V382I	possibly damaging	Het
Cyp21a1	G	A	17: 35,020,860 (GRCm39)	S453F	probably damaging	Het
D16Ertd472e	A	T	16: 78,344,646 (GRCm39)	I154N	probably benign	Het
Dbf4	A	G	5: 8,447,764 (GRCm39)	V482A	possibly damaging	Het
Dchs2	G	A	3: 83,192,573 (GRCm39)	V1673M	probably benign	Het
Dctd	T	A	8: 48,590,385 (GRCm39)	C119S	probably damaging	Het
Dock1	A	G	7: 134,717,065 (GRCm39)	T1234A	probably damaging	Het
Efcab3	T	A	11: 104,621,255 (GRCm39)		probably null	Het
Eya4	A	T	10: 22,999,805 (GRCm39)	M386K		Het
Fbxw19	T	A	9: 109,315,101 (GRCm39)	M154L	probably benign	Het
Frmpd1	T	A	4: 45,279,182 (GRCm39)	S636T	probably benign	Het
Glb1l	A	T	1: 75,177,683 (GRCm39)	Y412N	probably damaging	Het
Gnb5	T	A	9: 75,218,696 (GRCm39)	L7Q	probably damaging	Het
Gpr19	C	T	6: 134,864,704 (GRCm39)	V3M	unknown	Het
Hivep2	A	G	10: 14,007,505 (GRCm39)	T1368A	probably damaging	Het
Hmx3	A	T	7: 131,146,102 (GRCm39)	Q270L	probably damaging	Het
Il1rap	A	T	16: 26,533,675 (GRCm39)	I524F	possibly damaging	Het
Mettl17	G	A	14: 52,125,491 (GRCm39)	G198D	probably damaging	Het
Mga	T	A	2: 119,765,999 (GRCm39)	I1421N	possibly damaging	Het
Myb	T	A	10: 21,026,275 (GRCm39)	Q231L	probably benign	Het
Myef2l	T	A	3: 10,154,407 (GRCm39)	M392K	probably benign	Het
Myf5	G	A	10: 107,321,527 (GRCm39)	T89I	probably damaging	Het
Nup214	T	A	2: 31,937,523 (GRCm39)	L1999Q	probably damaging	Het
Or10aa3	T	C	1: 173,878,329 (GRCm39)	L130P		Het
Or1ad6	T	A	11: 50,860,613 (GRCm39)	L256Q	probably damaging	Het
Or4a76	A	G	2: 89,460,388 (GRCm39)	Y285H	probably damaging	Het
Or51t4	A	T	7: 102,598,443 (GRCm39)	H257L	probably damaging	Het
Or5w19	G	A	2: 87,698,379 (GRCm39)	G15R	probably damaging	Het
Or7a36	A	G	10: 78,820,220 (GRCm39)	M199V	probably benign	Het
Otog	A	T	7: 45,916,721 (GRCm39)	D886V	possibly damaging	Het
Pde7a	A	C	3: 19,287,958 (GRCm39)	V237G	possibly damaging	Het
Pigs	T	C	11: 78,230,213 (GRCm39)	Y327H	probably damaging	Het
Pkd2l2	T	C	18: 34,563,383 (GRCm39)	V478A	probably damaging	Het
Pnrc1	C	A	4: 33,246,488 (GRCm39)	G157V	probably damaging	Het
Poglut1	G	T	16: 38,347,137 (GRCm39)	S343R	probably benign	Het
Pyy	C	T	11: 101,998,111 (GRCm39)	G23E	probably damaging	Het
Ripor3	T	A	2: 167,831,238 (GRCm39)	D521V	probably benign	Het
Rnpepl1	T	C	1: 92,845,424 (GRCm39)	S448P	probably benign	Het
Sash1	G	A	10: 8,637,994 (GRCm39)		probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Synj1	C	T	16: 90,741,740 (GRCm39)	C1252Y	probably benign	Het
Tenm2	A	T	11: 35,960,246 (GRCm39)	L1027Q	probably damaging	Het
Tep1	A	G	14: 51,074,637 (GRCm39)	V1796A	possibly damaging	Het
Timp3	A	T	10: 86,136,782 (GRCm39)	E22V	possibly damaging	Het
Tlk1	A	C	2: 70,617,219 (GRCm39)		probably null	Het
Tmco1	C	A	1: 167,141,700 (GRCm39)	T69K		Het
Topaz1	T	A	9: 122,626,728 (GRCm39)	M1452K	probably benign	Het
Tsc22d2	T	C	3: 58,367,453 (GRCm39)	Y668H	unknown	Het
Uri1	A	T	7: 37,669,031 (GRCm39)	D153E	probably benign	Het
Vmn1r169	A	T	7: 23,277,342 (GRCm39)	T245S	probably damaging	Het
Vmn1r60	A	G	7: 5,547,918 (GRCm39)	Y61H		Het
Zfp541	A	T	7: 15,806,139 (GRCm39)	E91D	probably damaging	Het
Zfp946	A	G	17: 22,673,569 (GRCm39)	N108D	possibly damaging	Het
Zpr1	T	C	9: 46,186,747 (GRCm39)	L194P	probably damaging	Het
Zzef1	T	A	11: 72,755,653 (GRCm39)	N1027K	possibly damaging	Het

Other mutations in Ppwd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ppwd1	APN	13	104,353,651 (GRCm39)	missense	probably damaging	1.00
IGL01582:Ppwd1	APN	13	104,350,212 (GRCm39)	missense	probably benign	0.01
IGL01697:Ppwd1	APN	13	104,356,972 (GRCm39)	missense	probably benign	0.01
IGL01771:Ppwd1	APN	13	104,353,624 (GRCm39)	missense	probably damaging	1.00
IGL02414:Ppwd1	APN	13	104,359,645 (GRCm39)	missense	probably benign
IGL02803:Ppwd1	APN	13	104,350,192 (GRCm39)	missense	probably benign	0.00
IGL02873:Ppwd1	APN	13	104,346,261 (GRCm39)	missense	probably damaging	1.00
F5770:Ppwd1	UTSW	13	104,356,745 (GRCm39)	missense	probably damaging	0.98
R0462:Ppwd1	UTSW	13	104,359,468 (GRCm39)	critical splice acceptor site	probably null
R1638:Ppwd1	UTSW	13	104,356,771 (GRCm39)	missense	probably damaging	1.00
R2211:Ppwd1	UTSW	13	104,343,650 (GRCm39)	missense	probably benign	0.26
R2226:Ppwd1	UTSW	13	104,353,753 (GRCm39)	missense	probably damaging	1.00
R2299:Ppwd1	UTSW	13	104,356,571 (GRCm39)	missense	probably benign
R2353:Ppwd1	UTSW	13	104,350,090 (GRCm39)	missense	probably benign
R2382:Ppwd1	UTSW	13	104,343,621 (GRCm39)	missense	probably damaging	1.00
R3123:Ppwd1	UTSW	13	104,350,198 (GRCm39)	missense	possibly damaging	0.90
R4521:Ppwd1	UTSW	13	104,346,167 (GRCm39)	missense	probably benign	0.16
R4972:Ppwd1	UTSW	13	104,356,616 (GRCm39)	missense	probably benign	0.00
R5125:Ppwd1	UTSW	13	104,356,943 (GRCm39)	missense	probably benign	0.14
R5178:Ppwd1	UTSW	13	104,356,943 (GRCm39)	missense	probably benign	0.14
R5468:Ppwd1	UTSW	13	104,361,952 (GRCm39)	missense	possibly damaging	0.52
R5638:Ppwd1	UTSW	13	104,356,906 (GRCm39)	missense	probably damaging	1.00
R6748:Ppwd1	UTSW	13	104,344,538 (GRCm39)	nonsense	probably null
R7095:Ppwd1	UTSW	13	104,342,134 (GRCm39)	missense	probably benign	0.21
R7201:Ppwd1	UTSW	13	104,343,680 (GRCm39)	missense	probably damaging	1.00
R7206:Ppwd1	UTSW	13	104,350,106 (GRCm39)	missense	probably damaging	0.99
R7664:Ppwd1	UTSW	13	104,356,798 (GRCm39)	missense	probably damaging	1.00
R7746:Ppwd1	UTSW	13	104,353,714 (GRCm39)	missense	probably damaging	1.00
R9259:Ppwd1	UTSW	13	104,359,612 (GRCm39)	missense	probably damaging	1.00
R9354:Ppwd1	UTSW	13	104,342,080 (GRCm39)	missense	probably benign	0.00
V7580:Ppwd1	UTSW	13	104,356,745 (GRCm39)	missense	probably damaging	0.98
V7581:Ppwd1	UTSW	13	104,356,745 (GRCm39)	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