Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Pdzph1'

227093

Institutional Source

Beutler Lab

Gene Symbol

Pdzph1

Ensembl Gene

ENSMUSG00000024227

Gene Name

PDZ and pleckstrin homology domains 1

Synonyms

2610034M16Rik

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

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

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58878808-58991375 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58974097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 397 (R397G)

Ref Sequence

ENSEMBL: ENSMUSP00000025064 (fasta)

Gene Model

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

AlphaFold

Q8BGR1

Predicted Effect

probably benign
Transcript: ENSMUST00000025064
AA Change: R397G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025064
Gene: ENSMUSG00000024227
AA Change: R397G

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,876,769 (GRCm38)	K31E	probably damaging	Het
4930548H24Rik	T	C	5: 31,487,383 (GRCm38)	V160A	possibly damaging	Het
9130011E15Rik	G	T	19: 45,891,285 (GRCm38)	P543Q	probably damaging	Het
Abcc10	G	C	17: 46,303,565 (GRCm38)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,798,513 (GRCm38)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,409,344 (GRCm38)	F497S	probably damaging	Het
Ash1l	C	G	3: 88,966,203 (GRCm38)	P98A	probably damaging	Het
Atad5	A	T	11: 80,098,052 (GRCm38)		probably null	Het
B3gnt4	A	T	5: 123,511,370 (GRCm38)	H266L	probably benign	Het
Bmi1	A	G	2: 18,684,040 (GRCm38)	I207V	probably benign	Het
Bnip3l	A	G	14: 66,989,222 (GRCm38)	M174T	probably damaging	Het
Bora	T	C	14: 99,062,278 (GRCm38)	S229P	probably damaging	Het
Ccdc27	T	A	4: 154,041,813 (GRCm38)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,320,488 (GRCm38)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,554,694 (GRCm38)	D40V	probably damaging	Het
Cilp	T	A	9: 65,279,095 (GRCm38)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,694,783 (GRCm38)		probably null	Het
Cntnap1	A	G	11: 101,182,979 (GRCm38)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,647,696 (GRCm38)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,421,517 (GRCm38)	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,610,624 (GRCm38)	D529G	probably damaging	Het
Defb28	T	A	2: 152,520,144 (GRCm38)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,465,119 (GRCm38)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,136,635 (GRCm38)	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,088,296 (GRCm38)		probably null	Het
Ecscr	T	G	18: 35,715,437 (GRCm38)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,273,344 (GRCm38)	R55L	probably damaging	Het
Eml1	G	T	12: 108,512,999 (GRCm38)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,815,370 (GRCm38)	N901K	probably benign	Het
Fam161b	T	A	12: 84,356,428 (GRCm38)	I143F	probably benign	Het
Fam180a	A	G	6: 35,325,911 (GRCm38)	S2P	probably benign	Het
Fam57b	T	C	7: 126,819,840 (GRCm38)	L4P	probably benign	Het
Fat3	T	A	9: 15,999,370 (GRCm38)	I1779F	probably benign	Het
Fat4	A	G	3: 39,010,655 (GRCm38)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,976,355 (GRCm38)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm38)	S30G	probably damaging	Het
Gm13078	T	G	4: 143,726,902 (GRCm38)	Y193*	probably null	Het
Gm5414	A	T	15: 101,628,060 (GRCm38)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,530,615 (GRCm38)	T158A	probably damaging	Het
Hic1	T	C	11: 75,169,059 (GRCm38)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,171,359 (GRCm38)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,372,749 (GRCm38)	K122*	probably null	Het
Jakmip2	T	C	18: 43,563,330 (GRCm38)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,501,995 (GRCm38)	T1519A	probably benign	Het
Lfng	T	C	5: 140,612,595 (GRCm38)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,379,096 (GRCm38)	V583I	unknown	Het
Map4k5	C	T	12: 69,816,337 (GRCm38)	V629I	probably damaging	Het
Med12l	A	G	3: 59,244,905 (GRCm38)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,592,611 (GRCm38)	T705I	probably benign	Het
Mptx2	A	T	1: 173,274,578 (GRCm38)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,923,067 (GRCm38)		probably null	Het
Myo5a	A	G	9: 75,181,984 (GRCm38)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,212,820 (GRCm38)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,716,347 (GRCm38)	I77F	probably damaging	Het
Oit3	T	G	10: 59,431,013 (GRCm38)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,061,111 (GRCm38)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,117,725 (GRCm38)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,324,991 (GRCm38)		probably null	Het
Phip	T	A	9: 82,875,299 (GRCm38)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,692,907 (GRCm38)	S10*	probably null	Het
Prdm1	C	T	10: 44,441,412 (GRCm38)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,897,648 (GRCm38)	V320A	probably damaging	Het
Rbak	A	G	5: 143,176,584 (GRCm38)	L8P	probably damaging	Het
Rere	C	A	4: 150,614,590 (GRCm38)		probably benign	Het
Rint1	T	C	5: 23,810,929 (GRCm38)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,520,866 (GRCm38)	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,680,189 (GRCm38)	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,212,403 (GRCm38)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,237,883 (GRCm38)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,207,622 (GRCm38)	I343V	probably benign	Het
Spin1	T	C	13: 51,144,537 (GRCm38)		probably null	Het
St14	T	A	9: 31,091,373 (GRCm38)	I745F	probably damaging	Het
Sv2a	G	A	3: 96,193,875 (GRCm38)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,747,638 (GRCm38)	G113C	probably damaging	Het
Trp53	A	G	11: 69,589,632 (GRCm38)	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,372,469 (GRCm38)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm38)	E414G	probably benign	Het
Wrap73	T	A	4: 154,148,743 (GRCm38)	S125T	possibly damaging	Het
Wwc2	T	C	8: 47,868,321 (GRCm38)	D586G	unknown	Het
Zfp106	T	C	2: 120,523,529 (GRCm38)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,979,912 (GRCm38)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,250,819 (GRCm38)	N463K	possibly damaging	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
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
R4868:Pdzph1	UTSW	17	58,974,756 (GRCm38)	missense	probably benign	0.00
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'- TAGAGTTTCCTCACCTCTGCAG -3'
(R):5'- TGAAGAGGGAGAGTCTGCTACC -3'

Sequencing Primer
(F):5'- GCAGCCCATGTTGTCTGC -3'
(R):5'- TGCTACCTCTCCGCAGAAG -3'

Posted On

2014-09-17