Mutagenetix > Incidental Mutation

Incidental Mutation 'R9259:Ppwd1'

702125

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 #

R9259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104341632-104365351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104359612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 130 (R130C)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

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

AlphaFold

Q8CEC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: R130C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: R130C

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	G	12: 84,155,816 (GRCm39)	I255V	possibly damaging	Het
Adcy8	A	T	15: 64,576,604 (GRCm39)	I986N	probably damaging	Het
Agr2	T	A	12: 36,053,863 (GRCm39)	M164K	probably damaging	Het
Akap11	G	A	14: 78,749,949 (GRCm39)	H813Y		Het
Alas1	A	T	9: 106,118,835 (GRCm39)	S195T	probably benign	Het
Aldoart1	T	C	4: 72,770,680 (GRCm39)	T43A	probably benign	Het
Alms1	A	G	6: 85,644,873 (GRCm39)	D2537G	possibly damaging	Het
Alpk3	A	G	7: 80,743,302 (GRCm39)	T1040A	probably damaging	Het
Ankrd16	T	C	2: 11,784,532 (GRCm39)	I120T	probably damaging	Het
Anks4b	A	G	7: 119,773,278 (GRCm39)	E46G	probably benign	Het
Ap3d1	A	T	10: 80,559,661 (GRCm39)	V199E	probably damaging	Het
Atp1a3	A	G	7: 24,696,956 (GRCm39)	S236P	probably damaging	Het
Atp5mc2	T	A	15: 102,571,561 (GRCm39)	N110I	probably damaging	Het
Cabin1	A	G	10: 75,582,576 (GRCm39)	M280T	probably benign	Het
Cdc5l	T	C	17: 45,736,817 (GRCm39)	T134A	possibly damaging	Het
Clec4n	C	A	6: 123,212,424 (GRCm39)	P80Q	probably damaging	Het
Clip3	A	G	7: 29,998,375 (GRCm39)	K274E	probably benign	Het
Cntrob	A	T	11: 69,211,665 (GRCm39)	D186E	possibly damaging	Het
Cplane1	T	C	15: 8,232,787 (GRCm39)	V1102A	possibly damaging	Het
Dcun1d3	A	G	7: 119,457,052 (GRCm39)	V220A	probably benign	Het
Emsy	A	T	7: 98,242,757 (GRCm39)	N1127K	probably benign	Het
Entpd2	C	T	2: 25,288,614 (GRCm39)	S206L	probably damaging	Het
Fgd4	T	C	16: 16,295,325 (GRCm39)	E218G	probably damaging	Het
Fkbp2	G	T	19: 6,955,960 (GRCm39)	Q82K	probably benign	Het
Gpr161	T	C	1: 165,138,025 (GRCm39)	Y204H	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Havcr1	A	T	11: 46,661,318 (GRCm39)	D206V	probably damaging	Het
Hoxb9	G	A	11: 96,162,762 (GRCm39)	G132D	probably damaging	Het
Ifi44	C	T	3: 151,454,875 (GRCm39)	V117M	possibly damaging	Het
Inhbe	A	G	10: 127,186,844 (GRCm39)	F112S	probably damaging	Het
Iqgap2	A	T	13: 95,766,561 (GRCm39)	Y1481N	probably damaging	Het
Irak4	A	T	15: 94,456,726 (GRCm39)	H303L	probably damaging	Het
Kdm5d	A	G	Y: 942,640 (GRCm39)	E1435G	possibly damaging	Het
Kifc1	G	T	17: 34,101,165 (GRCm39)	T599K	possibly damaging	Het
Klhl38	T	C	15: 58,186,471 (GRCm39)	E86G	probably benign	Het
Mcub	G	C	3: 129,720,070 (GRCm39)	T141R	probably benign	Het
Moxd2	A	T	6: 40,860,969 (GRCm39)	V274D	probably damaging	Het
Nol6	C	T	4: 41,118,229 (GRCm39)	V803M	possibly damaging	Het
Or8b51	C	T	9: 38,569,642 (GRCm39)		probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pbld1	A	G	10: 62,897,436 (GRCm39)	T46A	possibly damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Perm1	C	T	4: 156,303,607 (GRCm39)	T717I	probably benign	Het
Pim1	G	A	17: 29,710,181 (GRCm39)	A22T	probably benign	Het
Pkp2	C	T	16: 16,043,714 (GRCm39)	P156L	probably damaging	Het
Prdm16	C	A	4: 154,430,525 (GRCm39)	W321L	possibly damaging	Het
Ptprd	T	A	4: 75,990,200 (GRCm39)	D504V	probably damaging	Het
Pusl1	T	C	4: 155,975,639 (GRCm39)	T65A	probably damaging	Het
Rtcb	A	G	10: 85,774,925 (GRCm39)	I490T	probably damaging	Het
Sec31b	G	T	19: 44,505,855 (GRCm39)	L967I	probably damaging	Het
Sec63	A	C	10: 42,699,937 (GRCm39)	M666L	probably benign	Het
Sh3rf1	G	C	8: 61,806,838 (GRCm39)	A379P	probably benign	Het
Slc7a12	T	A	3: 14,546,376 (GRCm39)	L174I	probably damaging	Het
Sptbn4	C	T	7: 27,067,124 (GRCm39)	S1935N	possibly damaging	Het
Susd6	A	T	12: 80,898,030 (GRCm39)	Q55L	probably benign	Het
Tecpr2	A	G	12: 110,897,867 (GRCm39)	E373G	possibly damaging	Het
Tent5c	T	C	3: 100,379,640 (GRCm39)	Y372C	probably damaging	Het
Tm6sf2	A	T	8: 70,530,585 (GRCm39)	I222L	probably benign	Het
Tsc22d1	T	A	14: 76,654,484 (GRCm39)	V321E	probably damaging	Het
Tspoap1	A	G	11: 87,670,350 (GRCm39)	N172S		Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vcan	G	A	13: 89,838,989 (GRCm39)	S2185F	probably damaging	Het
Wapl	G	T	14: 34,463,052 (GRCm39)	V1131L	probably benign	Het
Zfp658	A	G	7: 43,224,280 (GRCm39)	M852V	probably benign	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
R9354:Ppwd1	UTSW	13	104,342,080 (GRCm39)	missense	probably benign	0.00
R9408:Ppwd1	UTSW	13	104,346,155 (GRCm39)	missense	possibly damaging	0.74
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'- CGCTTTATCATCACCGACAGAG -3'
(R):5'- GCCTATTATTGAAGTAGCCAAATGC -3'

Sequencing Primer
(F):5'- TTTATCATCACCGACAGAGCAGAAC -3'
(R):5'- GCCAAATGCTGTCAGTCAATG -3'

Posted On

2022-03-25