Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Ppwd1'

560330

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

045279-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104205124-104228843 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104207172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 575 (P575L)

Ref Sequence

ENSEMBL: ENSMUSP00000022226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022225] [ENSMUST00000022226] [ENSMUST00000069187]

AlphaFold

Q8CEC6

Predicted Effect

probably benign
Transcript: ENSMUST00000022225

SMART Domains

Protein: ENSMUSP00000022225
Gene: ENSMUSG00000021712

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	1.32e-4	SMART
BBC	226	370	2.89e-41	SMART
ARF	387	569	1.15e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000022226
AA Change: P575L

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

SMART Domains

Protein: ENSMUSP00000022226
Gene: ENSMUSG00000021713
AA Change: P575L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069187

SMART Domains

Protein: ENSMUSP00000070767
Gene: ENSMUSG00000021712

Domain	Start	End	E-Value	Type
RING	31	75	3.07e-5	SMART
BBOX	122	168	3.07e-1	SMART
BBOX	173	219	5.95e-3	SMART
BBC	182	309	8.07e-22	SMART
ARF	326	508	1.15e-78	SMART

Meta Mutation Damage Score

0.9258

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,291,627	M1850V	probably benign	Het
4933406M09Rik	A	G	1: 134,390,468	D326G	possibly damaging	Het
Acaca	A	G	11: 84,262,474	T903A	probably benign	Het
Acin1	A	T	14: 54,664,899	S479T	possibly damaging	Het
Actr6	A	T	10: 89,712,512	D370E	probably benign	Het
Adgrl3	T	C	5: 81,724,222	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,886,824	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,273,232	Q306*	probably null	Het
Arntl	T	A	7: 113,285,142	M122K	probably damaging	Het
Art4	A	T	6: 136,854,549	V198E	probably benign	Het
Asph	G	A	4: 9,474,917	R686W	probably damaging	Het
Atg7	A	G	6: 114,777,057	H724R	probably damaging	Het
B020004J07Rik	T	A	4: 101,838,141		probably null	Het
BC034090	A	G	1: 155,241,934	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,731,586	Q45L	probably damaging	Het
Ccdc36	A	T	9: 108,404,775	D571E	probably damaging	Het
Cd28	G	T	1: 60,763,173	E84*	probably null	Het
Ceacam3	G	A	7: 17,158,238	W302*	probably null	Het
Cerkl	T	C	2: 79,333,590	N462S	probably benign	Het
Cisd2	A	T	3: 135,411,213	L39H	probably damaging	Het
Col11a1	C	A	3: 114,090,157	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,142,991	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,401,776	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,991,447	S263A	probably benign	Het
Cyp3a25	T	A	5: 146,003,058	L46F	probably benign	Het
D17Wsu92e	A	C	17: 27,794,070		probably null	Het
Dmrta1	T	A	4: 89,692,171	L456*	probably null	Het
Dnah12	T	C	14: 26,814,622	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,328,311	S253R	probably damaging	Het
Egln2	A	C	7: 27,160,319	I323S	probably damaging	Het
Fam171b	A	G	2: 83,878,230	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,963,397	Q276K	probably benign	Het
Fcrls	C	T	3: 87,252,627	C440Y	probably damaging	Het
Fmnl2	T	C	2: 53,073,654	V266A	unknown	Het
Glo1	A	T	17: 30,597,854	D109E	probably benign	Het
Grin3b	A	G	10: 79,974,078	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015	L425F	probably damaging	Het
Kcnq5	T	C	1: 21,402,875	E716G	possibly damaging	Het
Klra17	A	T	6: 129,873,343	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,629,897	Q37K	probably benign	Het
Ly6a	T	A	15: 74,996,476	T55S	probably benign	Het
Lyst	T	A	13: 13,709,300	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,631,351	Y140H	probably benign	Het
Mak	T	C	13: 41,051,440	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,489,172	I789T	probably benign	Het
Mrpl4	T	C	9: 21,007,338	I123T	probably benign	Het
Mup18	G	C	4: 61,673,336		probably null	Het
Myef2	T	C	2: 125,096,162		probably null	Het
Myh7	T	C	14: 54,990,945	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,715,459	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,830,895	Y85*	probably null	Het
Nyap1	A	T	5: 137,736,262	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,094		probably benign	Het
Olfr392	A	G	11: 73,814,341	V247A	probably benign	Het
Olfr559	T	A	7: 102,724,485	I2F	probably benign	Het
Olfr718-ps1	A	G	5: 143,137,798	Y157H	probably damaging	Het
Papss1	T	C	3: 131,599,926	L244P	probably damaging	Het
Pibf1	A	T	14: 99,196,408	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,737,179	M1K	probably null	Het
Prc1	A	G	7: 80,311,089	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,316,306	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,698,803	I1014V	probably benign	Het
Rab3gap2	A	G	1: 185,267,191	Y999C	probably damaging	Het
Robo3	G	A	9: 37,424,330	Q539*	probably null	Het
Rps12	A	G	10: 23,785,231	Y127H	probably benign	Het
Sar1b	A	G	11: 51,788,252	D116G	probably benign	Het
Selenbp2	C	T	3: 94,702,357	P294L	probably benign	Het
Slc6a2	T	C	8: 92,995,672	Y516H	probably damaging	Het
Slit2	A	G	5: 48,237,285	N673S	probably null	Het
Snap91	A	T	9: 86,790,146		probably null	Het
Srpk2	A	G	5: 23,507,628	F653L	possibly damaging	Het
Supt5	A	T	7: 28,316,788	S824T	probably benign	Het
Taar7a	A	G	10: 23,992,460	V341A	probably benign	Het
Tmem52	G	A	4: 155,470,321	G134R	probably damaging	Het
Ush2a	A	G	1: 188,874,754	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 85,022,855		probably null	Het
Vmn1r173	A	T	7: 23,702,158		probably benign	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vwce	A	G	19: 10,638,115	E120G	possibly damaging	Het
Zfp143	T	C	7: 110,093,080	V566A	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
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
R9408:Ppwd1	UTSW	13	104209647	missense	possibly damaging	0.74
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'- CACATTGCCTACTAGACAGAAATAGTG -3'
(R):5'- ACTGCACTTCATATACCCAGATTAC -3'

Sequencing Primer
(F):5'- CCATCTGGACAGATATAATAGTGCG -3'
(R):5'- AACAGGTACTGGTATGGG -3'

Posted On

2019-06-26