Mutagenetix > Incidental Mutation

Incidental Mutation 'R8898:Pdzph1'

678203

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58974339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 316 (V316D)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025064]

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: V316D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V316D

Domain	Start	End	E-Value	Type
Blast:PDZ	780	844	6e-20	BLAST
PDZ	915	984	3.31e-15	SMART
PH	993	1096	9.4e-19	SMART
PH	1120	1218	2.83e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,044	L988*	probably null	Het
4930546C10Rik	A	G	18: 68,950,035	F36S	unknown	Het
Acan	C	A	7: 79,100,353	T1624K	possibly damaging	Het
Ambn	T	C	5: 88,465,192		probably null	Het
Ankrd24	T	C	10: 81,642,518	I437T	unknown	Het
Arl4d	C	T	11: 101,667,001	R118W	probably damaging	Het
Atg2a	A	G	19: 6,256,691		probably benign	Het
Bcan	T	C	3: 87,988,388	T814A	probably benign	Het
Brca2	T	A	5: 150,569,033	M3171K	possibly damaging	Het
Cd209a	T	A	8: 3,748,739	S23C	probably damaging	Het
Chek2	A	T	5: 110,863,309	K324N	probably benign	Het
Col12a1	C	T	9: 79,692,295	V859I	probably benign	Het
Cyp7b1	C	T	3: 18,096,624	R317H	probably benign	Het
Dmxl2	A	G	9: 54,401,657	S1937P	probably benign	Het
Epb41l1	T	G	2: 156,493,949	V11G	probably damaging	Het
Ephb6	C	T	6: 41,613,359	A15V	probably benign	Het
Fat3	G	A	9: 15,947,526	P3798L	probably benign	Het
Foxd1	T	A	13: 98,355,088	C157S	probably damaging	Het
Gja10	T	C	4: 32,601,058	Q442R	probably benign	Het
Gm17019	A	C	5: 15,031,784	M47R	possibly damaging	Het
Gpr179	C	A	11: 97,351,503	E172*	probably null	Het
Grhl1	G	A	12: 24,584,946		probably null	Het
Gtf2ird2	A	T	5: 134,197,265	E184V	probably benign	Het
Hace1	A	G	10: 45,700,670	I813V	probably benign	Het
Hk2	A	T	6: 82,738,398	L385Q	probably damaging	Het
Htt	C	T	5: 34,819,032	T726I	probably benign	Het
Itga8	T	C	2: 12,140,395	S916G	probably benign	Het
Jag1	A	T	2: 137,093,255	F396I	probably damaging	Het
Kif16b	A	G	2: 142,712,979	M633T	possibly damaging	Het
Klf5	T	A	14: 99,301,486	F112I	probably damaging	Het
Lama1	A	T	17: 67,821,615	Q2989L		Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Map4k5	T	C	12: 69,813,157	T739A	possibly damaging	Het
Mbd3l2	A	T	9: 18,444,618	R80*	probably null	Het
Mctp2	T	C	7: 72,103,156	E783G	probably damaging	Het
Mill2	A	T	7: 18,856,564	M190L	probably benign	Het
N4bp3	T	C	11: 51,644,429	N311S	probably benign	Het
Nanos2	A	T	7: 18,987,624	D7V	probably damaging	Het
Ndufs7	T	A	10: 80,253,785		probably null	Het
Nexn	T	C	3: 152,242,669	N483S	probably benign	Het
Nlrp1b	T	G	11: 71,182,462	E185A	probably damaging	Het
Nop2	C	A	6: 125,137,155	Q195K	probably benign	Het
Olfr1234	A	G	2: 89,362,613	V272A	possibly damaging	Het
Olfr732	G	A	14: 50,281,495	P253S	probably damaging	Het
Pde12	G	A	14: 26,669,422	S44L	probably benign	Het
Pde1c	A	T	6: 56,137,386	V514E	probably damaging	Het
Prl3c1	A	T	13: 27,203,595	I208F	possibly damaging	Het
Raver2	G	A	4: 101,107,202		probably null	Het
Rpl13a-ps1	T	A	19: 50,030,308	H143L	probably benign	Het
Sept14	A	T	5: 129,683,578	I402K	possibly damaging	Het
Sla2	T	A	2: 156,875,965	Y129F	possibly damaging	Het
Smarca2	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	19: 26,630,958		probably benign	Het
Sorl1	A	G	9: 42,000,271	S1448P	probably damaging	Het
Spast	G	A	17: 74,388,278	R604H	probably damaging	Het
Speg	G	A	1: 75,388,873	G633S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,216,052		probably null	Het
Syt11	T	C	3: 88,762,028	M186V	probably benign	Het
Tex26	C	A	5: 149,456,904	N133K	probably benign	Het
Tnfrsf17	T	C	16: 11,314,046	C32R	probably damaging	Het
Trem1	T	A	17: 48,237,346	V133E	probably damaging	Het
Trpm7	A	T	2: 126,822,741	M906K	possibly damaging	Het
Ugt2b35	T	A	5: 87,011,330	I461K	possibly damaging	Het
Vmn2r77	T	A	7: 86,795,222	C28S	probably damaging	Het
Zfp521	C	A	18: 13,846,080	L425F	probably damaging	Het
Zfp790	C	T	7: 29,823,100		probably benign	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58974796	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58888110	missense	probably benign
IGL01413:Pdzph1	APN	17	58879152	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58922715	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58967339	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58967511	splice site	probably benign
IGL02548:Pdzph1	APN	17	58973391	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58879073	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58880647	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58932483	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58974069	missense	probably benign
IGL03304:Pdzph1	APN	17	58880646	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58974234	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0008:Pdzph1	UTSW	17	58922761	splice site	probably benign
R0498:Pdzph1	UTSW	17	58973830	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58922727	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58954479	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58932432	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58974087	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58974747	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	58932445	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58973752	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58974813	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58922583	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58974097	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58932412	splice site	probably benign
R2264:Pdzph1	UTSW	17	58888167	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58922649	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58973336	nonsense	probably null
R4700:Pdzph1	UTSW	17	58974546	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58973530	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	58922609	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58974880	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58973947	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58879151	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58885867	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58974412	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58973746	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58973627	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58974436	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58974126	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58879159	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58967341	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58932460	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58879110	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58932481	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58975143	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58973014	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58884013	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8820:Pdzph1	UTSW	17	58880720	nonsense	probably null
R8839:Pdzph1	UTSW	17	58950242	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58888038	missense	probably damaging	1.00
R8959:Pdzph1	UTSW	17	58974604	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58973540	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58954400	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58973130	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58950267	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58974903	nonsense	probably null
R9774:Pdzph1	UTSW	17	58974756	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58879121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGTGATATTTTCCCTGACATC -3'
(R):5'- GAAGAGGCCCCTTGAAACAC -3'

Sequencing Primer
(F):5'- AAACTCGTGGTCCTTAAGGTTTCAG -3'
(R):5'- CACCACGGATGAACCCTGTG -3'

Posted On

2021-08-02