Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Pdzph1'

376372

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

042478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58974756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 177 (V177D)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: V177D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: V177D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,710,097 (GRCm38)	*299W	probably null	Het
4933412E24Rik	G	A	15: 60,015,968 (GRCm38)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,974,512 (GRCm38)	A373V	probably benign	Het
Actn3	A	T	19: 4,864,454 (GRCm38)	W549R	probably benign	Het
Adamts4	C	T	1: 171,252,431 (GRCm38)		probably benign	Het
Adcy4	T	C	14: 55,773,722 (GRCm38)	I615V	probably benign	Het
Akap1	A	G	11: 88,844,553 (GRCm38)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,743,504 (GRCm38)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,600,627 (GRCm38)	S151G	possibly damaging	Het
Aoah	T	A	13: 20,914,981 (GRCm38)	Y243*	probably null	Het
Asap1	A	G	15: 64,094,181 (GRCm38)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,551,866 (GRCm38)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,924,882 (GRCm38)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,870,456 (GRCm38)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,956,786 (GRCm38)		probably null	Het
Casp3	A	T	8: 46,634,279 (GRCm38)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,694,332 (GRCm38)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 45,104,413 (GRCm38)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,492,833 (GRCm38)	F55L	probably benign	Het
Cmah	T	A	13: 24,464,264 (GRCm38)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,083,023 (GRCm38)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,370,952 (GRCm38)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,993,398 (GRCm38)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,255,409 (GRCm38)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,092,076 (GRCm38)		probably benign	Het
Dhx34	T	C	7: 16,199,802 (GRCm38)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,170,186 (GRCm38)	M541V	probably benign	Het
Dnah17	A	T	11: 118,108,212 (GRCm38)	S912T	probably benign	Het
Dnah2	A	T	11: 69,463,648 (GRCm38)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,179,693 (GRCm38)	W1502R	probably damaging	Het
Dzip1	A	T	14: 118,877,214 (GRCm38)	V843E	probably damaging	Het
Esp23	G	T	17: 39,074,024 (GRCm38)	T27K	probably benign	Het
Esp3	A	T	17: 40,633,529 (GRCm38)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,395,797 (GRCm38)	T71S	probably benign	Het
Fam46b	A	G	4: 133,486,082 (GRCm38)		probably null	Het
Fpgs	G	A	2: 32,692,661 (GRCm38)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,548,919 (GRCm38)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,751,410 (GRCm38)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,785,317 (GRCm38)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,429,379 (GRCm38)	V246I	probably damaging	Het
Krt75	C	T	15: 101,568,121 (GRCm38)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,701,290 (GRCm38)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,583,009 (GRCm38)	V114L	probably damaging	Het
Maml3	C	A	3: 52,103,924 (GRCm38)	E74*	probably null	Het
Map2k7	G	A	8: 4,247,751 (GRCm38)		probably benign	Het
Mapk8ip3	A	G	17: 24,901,415 (GRCm38)	V883A	probably benign	Het
Mbtps1	C	T	8: 119,508,928 (GRCm38)	V1004I	probably benign	Het
Metap1	G	T	3: 138,483,089 (GRCm38)	H48Q	probably damaging	Het
Mical2	T	A	7: 112,318,624 (GRCm38)	V396E	probably damaging	Het
Mks1	T	A	11: 87,853,723 (GRCm38)		probably benign	Het
Ndst1	T	C	18: 60,695,476 (GRCm38)	T669A	probably benign	Het
Obox3	T	C	7: 15,627,310 (GRCm38)	K10R	probably damaging	Het
Olfr1014	T	G	2: 85,776,626 (GRCm38)	V14G	possibly damaging	Het
Olfr1318	T	A	2: 112,156,571 (GRCm38)	S207T	probably damaging	Het
Olfr711	C	T	7: 106,971,767 (GRCm38)	M192I	probably benign	Het
Opn3	T	C	1: 175,663,561 (GRCm38)	Y302C	probably damaging	Het
Pex5l	T	A	3: 32,952,490 (GRCm38)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,748,853 (GRCm38)	Y366*	probably null	Het
Prr14l	A	T	5: 32,829,937 (GRCm38)	M738K	probably benign	Het
Prx	T	C	7: 27,517,579 (GRCm38)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,831,057 (GRCm38)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,381,900 (GRCm38)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,694,141 (GRCm38)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,009,185 (GRCm38)	S259T	probably damaging	Het
Sike1	A	G	3: 102,997,414 (GRCm38)		probably null	Het
Sis	T	G	3: 72,943,548 (GRCm38)	I606L	probably benign	Het
Slc30a9	T	C	5: 67,324,683 (GRCm38)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,178,231 (GRCm38)	I424T	probably damaging	Het
Spx	C	T	6: 142,416,390 (GRCm38)	R72*	probably null	Het
St7	C	A	6: 17,819,266 (GRCm38)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,728,008 (GRCm38)	G3V	probably damaging	Het
Tgfb3	T	C	12: 86,062,181 (GRCm38)	D258G	probably benign	Het
Timeless	G	T	10: 128,247,361 (GRCm38)	G659V	probably benign	Het
Tnn	T	C	1: 160,130,873 (GRCm38)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,956,577 (GRCm38)		probably null	Het
Trank1	T	A	9: 111,365,641 (GRCm38)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,351,599 (GRCm38)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,629,466 (GRCm38)	I389N	probably damaging	Het
Ube3b	T	C	5: 114,398,427 (GRCm38)	V216A	probably benign	Het
Vezf1	T	A	11: 88,074,694 (GRCm38)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 21,133,302 (GRCm38)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,504,736 (GRCm38)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,481,481 (GRCm38)	I442F	probably benign	Het
Vwa8	C	A	14: 79,183,082 (GRCm38)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,738,234 (GRCm38)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,216,851 (GRCm38)	Q372P	probably damaging	Het
Zcchc11	T	C	4: 108,549,220 (GRCm38)		probably benign	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	58,974,796 (GRCm38)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	58,888,110 (GRCm38)	missense	probably benign
IGL01413:Pdzph1	APN	17	58,879,152 (GRCm38)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	58,922,715 (GRCm38)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	58,967,339 (GRCm38)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	58,967,511 (GRCm38)	splice site	probably benign
IGL02548:Pdzph1	APN	17	58,973,391 (GRCm38)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	58,879,073 (GRCm38)	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	58,880,647 (GRCm38)	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	58,932,483 (GRCm38)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	58,974,069 (GRCm38)	missense	probably benign
IGL03304:Pdzph1	APN	17	58,880,646 (GRCm38)	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	58,974,234 (GRCm38)	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0008:Pdzph1	UTSW	17	58,922,761 (GRCm38)	splice site	probably benign
R0498:Pdzph1	UTSW	17	58,973,830 (GRCm38)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	58,922,727 (GRCm38)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	58,954,479 (GRCm38)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	58,932,432 (GRCm38)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	58,974,087 (GRCm38)	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	58,974,747 (GRCm38)	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	58,932,445 (GRCm38)	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	58,973,752 (GRCm38)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	58,974,813 (GRCm38)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	58,922,583 (GRCm38)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	58,974,097 (GRCm38)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	58,932,412 (GRCm38)	splice site	probably benign
R2264:Pdzph1	UTSW	17	58,888,167 (GRCm38)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	58,922,649 (GRCm38)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	58,973,336 (GRCm38)	nonsense	probably null
R4700:Pdzph1	UTSW	17	58,974,546 (GRCm38)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	58,973,530 (GRCm38)	missense	possibly damaging	0.95
R5130:Pdzph1	UTSW	17	58,922,609 (GRCm38)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	58,974,880 (GRCm38)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	58,973,947 (GRCm38)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	58,879,151 (GRCm38)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	58,885,867 (GRCm38)	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	58,974,412 (GRCm38)	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	58,973,746 (GRCm38)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	58,973,627 (GRCm38)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	58,974,436 (GRCm38)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	58,974,126 (GRCm38)	missense	probably benign	0.02
R7395:Pdzph1	UTSW	17	58,879,159 (GRCm38)	missense	possibly damaging	0.85
R7525:Pdzph1	UTSW	17	58,967,341 (GRCm38)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	58,932,460 (GRCm38)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	58,879,110 (GRCm38)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	58,932,481 (GRCm38)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	58,975,143 (GRCm38)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	58,973,014 (GRCm38)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	58,884,013 (GRCm38)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8820:Pdzph1	UTSW	17	58,880,720 (GRCm38)	nonsense	probably null
R8839:Pdzph1	UTSW	17	58,950,242 (GRCm38)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	58,888,038 (GRCm38)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	58,974,339 (GRCm38)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	58,974,604 (GRCm38)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	58,973,540 (GRCm38)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	58,954,400 (GRCm38)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	58,973,130 (GRCm38)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	58,950,267 (GRCm38)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	58,974,903 (GRCm38)	nonsense	probably null
R9774:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	58,879,121 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTCAAGGGGCCTCTTC -3'
(R):5'- ACAGAGGATTTCCCAAACACTG -3'

Sequencing Primer
(F):5'- CAAGGGGCCTCTTCTATGTTTTGTC -3'
(R):5'- TGTAGAAGTCTTAAAGCCAGCC -3'

Posted On

2016-03-17