Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Pdzph1'

573780

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

045477-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7395 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59185803-59298344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59186154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1212 (K1212N)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025064] [ENSMUST00000177360]

AlphaFold

Q8BGR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025064
AA Change: K1212N

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: K1212N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177360
AA Change: K172N

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135180
Gene: ENSMUSG00000024227
AA Change: K172N

Domain	Start	End	E-Value	Type
SCOP:d1faoa_	1	54	1e-4	SMART
Blast:PH	1	56	4e-33	BLAST
PH	80	178	2.83e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
4930433I11Rik	A	T	7: 40,639,102 (GRCm39)	T13S	probably damaging	Het
Abca13	A	G	11: 9,241,658 (GRCm39)	I1174V	probably benign	Het
Acoxl	G	A	2: 127,726,336 (GRCm39)	V237M	probably damaging	Het
Adam33	A	C	2: 130,903,089 (GRCm39)	W52G	probably benign	Het
Adgrv1	T	C	13: 81,707,467 (GRCm39)	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,566,716 (GRCm39)	T89A	probably benign	Het
Armc8	T	C	9: 99,415,185 (GRCm39)	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,949 (GRCm39)	*383Q	probably null	Het
Atp8b4	A	T	2: 126,217,614 (GRCm39)	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,649,069 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Bicd2	A	G	13: 49,531,706 (GRCm39)	D316G	possibly damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Car11	T	A	7: 45,350,745 (GRCm39)	Y80*	probably null	Het
Ccdc121rt2	A	T	5: 112,598,035 (GRCm39)	E194V	possibly damaging	Het
Ccdc96	T	C	5: 36,642,609 (GRCm39)	I205T	probably benign	Het
Ces2a	A	G	8: 105,466,273 (GRCm39)	E390G	probably benign	Het
Cfap54	C	A	10: 92,720,565 (GRCm39)	V2630L	unknown	Het
Chek2	G	T	5: 111,019,974 (GRCm39)		probably null	Het
Cntn3	C	T	6: 102,314,355 (GRCm39)		probably null	Het
Cpne3	A	T	4: 19,528,239 (GRCm39)	D339E	probably damaging	Het
Crocc2	C	T	1: 93,143,829 (GRCm39)	Q1403*	probably null	Het
Crppa	A	T	12: 36,551,994 (GRCm39)	I283F	possibly damaging	Het
Csnka2ip	G	A	16: 64,299,803 (GRCm39)	T187I		Het
Ctu1	A	G	7: 43,326,019 (GRCm39)	H226R	possibly damaging	Het
Cubn	G	T	2: 13,291,875 (GRCm39)	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,659,134 (GRCm39)	L169P	probably benign	Het
Dcc	T	A	18: 71,507,640 (GRCm39)	K911*	probably null	Het
Dcun1d2	G	A	8: 13,328,675 (GRCm39)	R75*	probably null	Het
Defb19	A	T	2: 152,421,943 (GRCm39)		probably null	Het
Dffb	A	T	4: 154,053,570 (GRCm39)	S257R	probably damaging	Het
Dip2c	A	C	13: 9,664,413 (GRCm39)	N942T	probably damaging	Het
Dnah3	T	A	7: 119,565,474 (GRCm39)	I169F		Het
Dnah3	T	C	7: 119,660,183 (GRCm39)	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,269,009 (GRCm39)	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,613,703 (GRCm39)	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,117,905 (GRCm39)	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,206,280 (GRCm39)	I556N	probably damaging	Het
Fry	G	T	5: 150,304,348 (GRCm39)	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,337,800 (GRCm39)	M488K	probably benign	Het
Gnpnat1	T	A	14: 45,619,038 (GRCm39)	H107L	probably benign	Het
Golga2	C	A	2: 32,195,599 (GRCm39)	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,910,929 (GRCm39)	A214T	probably damaging	Het
Greb1	A	T	12: 16,759,431 (GRCm39)		probably null	Het
Hdac10	G	A	15: 89,012,487 (GRCm39)	T32I	probably benign	Het
Hkdc1	G	A	10: 62,221,478 (GRCm39)	T860I	probably damaging	Het
Icam5	C	A	9: 20,946,738 (GRCm39)	P422Q	possibly damaging	Het
Ist1	A	C	8: 110,404,159 (GRCm39)	S238A	probably benign	Het
Lrig2	T	C	3: 104,404,836 (GRCm39)	N91D	probably benign	Het
Mapt	A	C	11: 104,218,949 (GRCm39)	D352A	probably damaging	Het
Micall2	G	A	5: 139,702,124 (GRCm39)	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,761,585 (GRCm39)	S560G	possibly damaging	Het
Mpo	A	G	11: 87,691,950 (GRCm39)	D461G	probably damaging	Het
Myo1a	G	T	10: 127,546,309 (GRCm39)	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,345,188 (GRCm39)	P720S	not run	Het
Ncr1	T	A	7: 4,341,150 (GRCm39)	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730 (GRCm39)	R66C	probably damaging	Het
Obox5	A	T	7: 15,492,668 (GRCm39)	S208C	probably damaging	Het
Or10q1	T	C	19: 13,726,502 (GRCm39)	S11P	probably damaging	Het
Or2n1d	A	T	17: 38,646,755 (GRCm39)	K236*	probably null	Het
Or5p75-ps1	T	A	7: 108,107,611 (GRCm39)	F116Y	unknown	Het
Or7d9	T	A	9: 20,197,826 (GRCm39)	M285K	probably damaging	Het
Padi4	A	C	4: 140,488,983 (GRCm39)	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,025,450 (GRCm39)	D348E	probably damaging	Het
Piezo2	C	T	18: 63,160,634 (GRCm39)	G2341R	probably damaging	Het
Plb1	A	G	5: 32,511,028 (GRCm39)	K1298E	probably benign	Het
Prr14l	A	G	5: 32,985,982 (GRCm39)	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,318,850 (GRCm39)	T680A	probably benign	Het
Rev1	A	T	1: 38,127,146 (GRCm39)	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,799,997 (GRCm39)	C917R	probably damaging	Het
Sall1	A	T	8: 89,757,549 (GRCm39)	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,779,272 (GRCm39)	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,182,887 (GRCm39)	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,718,332 (GRCm39)	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,321,475 (GRCm39)	L890Q	probably damaging	Het
Smg5	T	A	3: 88,268,378 (GRCm39)	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,283,899 (GRCm39)	V51A	probably damaging	Het
St14	T	C	9: 31,008,195 (GRCm39)	K547E	probably benign	Het
Stag1	T	G	9: 100,678,781 (GRCm39)	V234G	probably damaging	Het
Stag3	A	T	5: 138,280,207 (GRCm39)	Q24L	probably benign	Het
Stra6	T	C	9: 58,048,380 (GRCm39)	Y158H	probably damaging	Het
Tcstv1a	A	T	13: 120,355,666 (GRCm39)		probably null	Het
Tmem196	G	A	12: 119,975,002 (GRCm39)	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,164,039 (GRCm39)	F84L		Het
Tph1	C	T	7: 46,306,627 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,776,834 (GRCm39)	I1522T	unknown	Het
Ulk4	T	A	9: 121,084,178 (GRCm39)	Q129L	probably benign	Het
Usp17la	T	A	7: 104,510,792 (GRCm39)	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,387,744 (GRCm39)	V609E	probably damaging	Het
Vmn2r52	C	T	7: 9,904,744 (GRCm39)	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,666,937 (GRCm39)	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,259,885 (GRCm39)		probably benign	Het

Other mutations in Pdzph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Pdzph1	APN	17	59,281,791 (GRCm39)	missense	possibly damaging	0.46
IGL00644:Pdzph1	APN	17	59,195,105 (GRCm39)	missense	probably benign
IGL01413:Pdzph1	APN	17	59,186,147 (GRCm39)	missense	possibly damaging	0.82
IGL01530:Pdzph1	APN	17	59,229,710 (GRCm39)	missense	probably damaging	1.00
IGL02089:Pdzph1	APN	17	59,274,334 (GRCm39)	missense	possibly damaging	0.92
IGL02201:Pdzph1	APN	17	59,274,506 (GRCm39)	splice site	probably benign
IGL02548:Pdzph1	APN	17	59,280,386 (GRCm39)	missense	probably benign	0.10
IGL02618:Pdzph1	APN	17	59,186,068 (GRCm39)	utr 3 prime	probably benign
IGL02660:Pdzph1	APN	17	59,187,642 (GRCm39)	missense	probably damaging	0.97
IGL02749:Pdzph1	APN	17	59,239,478 (GRCm39)	missense	possibly damaging	0.95
IGL02876:Pdzph1	APN	17	59,281,064 (GRCm39)	missense	probably benign
IGL03304:Pdzph1	APN	17	59,187,641 (GRCm39)	missense	probably damaging	1.00
IGL03336:Pdzph1	APN	17	59,281,229 (GRCm39)	missense	probably benign	0.00
R0008:Pdzph1	UTSW	17	59,229,756 (GRCm39)	splice site	probably benign
R0008:Pdzph1	UTSW	17	59,229,756 (GRCm39)	splice site	probably benign
R0498:Pdzph1	UTSW	17	59,280,825 (GRCm39)	missense	probably benign	0.00
R0553:Pdzph1	UTSW	17	59,229,722 (GRCm39)	missense	probably damaging	1.00
R0594:Pdzph1	UTSW	17	59,261,474 (GRCm39)	missense	possibly damaging	0.76
R1306:Pdzph1	UTSW	17	59,239,427 (GRCm39)	missense	possibly damaging	0.90
R1370:Pdzph1	UTSW	17	59,281,082 (GRCm39)	missense	possibly damaging	0.73
R1382:Pdzph1	UTSW	17	59,281,742 (GRCm39)	missense	probably benign	0.10
R1463:Pdzph1	UTSW	17	59,239,440 (GRCm39)	missense	probably damaging	1.00
R1766:Pdzph1	UTSW	17	59,280,747 (GRCm39)	missense	probably benign	0.16
R1773:Pdzph1	UTSW	17	59,281,808 (GRCm39)	missense	probably damaging	0.98
R1862:Pdzph1	UTSW	17	59,229,578 (GRCm39)	missense	probably damaging	1.00
R2070:Pdzph1	UTSW	17	59,281,092 (GRCm39)	missense	probably benign	0.04
R2071:Pdzph1	UTSW	17	59,281,092 (GRCm39)	missense	probably benign	0.04
R2229:Pdzph1	UTSW	17	59,239,407 (GRCm39)	splice site	probably benign
R2264:Pdzph1	UTSW	17	59,195,162 (GRCm39)	critical splice acceptor site	probably null
R2334:Pdzph1	UTSW	17	59,229,644 (GRCm39)	missense	probably damaging	1.00
R3750:Pdzph1	UTSW	17	59,280,331 (GRCm39)	nonsense	probably null
R4700:Pdzph1	UTSW	17	59,281,541 (GRCm39)	missense	probably damaging	0.98
R4847:Pdzph1	UTSW	17	59,280,525 (GRCm39)	missense	possibly damaging	0.95
R4868:Pdzph1	UTSW	17	59,281,751 (GRCm39)	missense	probably benign	0.00
R5130:Pdzph1	UTSW	17	59,229,604 (GRCm39)	missense	probably damaging	1.00
R5329:Pdzph1	UTSW	17	59,281,875 (GRCm39)	missense	probably damaging	1.00
R5574:Pdzph1	UTSW	17	59,280,942 (GRCm39)	missense	probably benign	0.00
R5770:Pdzph1	UTSW	17	59,186,146 (GRCm39)	missense	probably damaging	1.00
R5795:Pdzph1	UTSW	17	59,192,862 (GRCm39)	missense	possibly damaging	0.47
R5842:Pdzph1	UTSW	17	59,281,407 (GRCm39)	missense	possibly damaging	0.64
R5851:Pdzph1	UTSW	17	59,280,741 (GRCm39)	missense	probably benign	0.02
R6158:Pdzph1	UTSW	17	59,280,622 (GRCm39)	missense	probably damaging	0.96
R6813:Pdzph1	UTSW	17	59,281,431 (GRCm39)	missense	probably benign	0.08
R7022:Pdzph1	UTSW	17	59,281,121 (GRCm39)	missense	probably benign	0.02
R7525:Pdzph1	UTSW	17	59,274,336 (GRCm39)	missense	possibly damaging	0.73
R7944:Pdzph1	UTSW	17	59,239,455 (GRCm39)	missense	probably damaging	1.00
R7945:Pdzph1	UTSW	17	59,239,455 (GRCm39)	missense	probably damaging	1.00
R7992:Pdzph1	UTSW	17	59,186,105 (GRCm39)	missense	possibly damaging	0.71
R8016:Pdzph1	UTSW	17	59,239,476 (GRCm39)	missense	probably damaging	0.98
R8116:Pdzph1	UTSW	17	59,282,138 (GRCm39)	missense	probably benign	0.01
R8273:Pdzph1	UTSW	17	59,280,009 (GRCm39)	missense	probably benign	0.00
R8523:Pdzph1	UTSW	17	59,191,008 (GRCm39)	missense	probably damaging	1.00
R8819:Pdzph1	UTSW	17	59,187,715 (GRCm39)	nonsense	probably null
R8820:Pdzph1	UTSW	17	59,187,715 (GRCm39)	nonsense	probably null
R8839:Pdzph1	UTSW	17	59,257,237 (GRCm39)	missense	probably benign	0.02
R8871:Pdzph1	UTSW	17	59,195,033 (GRCm39)	missense	probably damaging	1.00
R8898:Pdzph1	UTSW	17	59,281,334 (GRCm39)	missense	probably benign	0.00
R8959:Pdzph1	UTSW	17	59,281,599 (GRCm39)	missense	probably damaging	0.97
R9043:Pdzph1	UTSW	17	59,280,535 (GRCm39)	missense	probably benign	0.05
R9083:Pdzph1	UTSW	17	59,261,395 (GRCm39)	missense	possibly damaging	0.94
R9092:Pdzph1	UTSW	17	59,280,125 (GRCm39)	missense	probably damaging	1.00
R9682:Pdzph1	UTSW	17	59,257,262 (GRCm39)	missense	probably damaging	1.00
R9757:Pdzph1	UTSW	17	59,281,898 (GRCm39)	nonsense	probably null
R9774:Pdzph1	UTSW	17	59,281,751 (GRCm39)	missense	probably benign	0.00
X0028:Pdzph1	UTSW	17	59,186,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCTCAGGACAGCAGAAAG -3'
(R):5'- TATGAACATCAACTCTCCTACATGC -3'

Sequencing Primer
(F):5'- GAAATGCTATGCTTCTTTCCTCAAG -3'
(R):5'- ACTTTCATTACTGAGCCATCTTGG -3'

Posted On

2019-09-13