Mutagenetix > Incidental Mutation

Incidental Mutation 'R4967:Pdzrn3'

384105

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn3

Ensembl Gene

ENSMUSG00000035357

Gene Name

PDZ domain containing RING finger 3

Synonyms

1110020C07Rik, semaphorin cytoplasmic domain-associated protein 3A, LNX3, Semcap3

MMRRC Submission

042563-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101126570-101354858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101128551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 705 (R705H)

Ref Sequence

ENSEMBL: ENSMUSP00000075376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075994]

AlphaFold

Q69ZS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000075994
AA Change: R705H

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

SMART Domains

Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: R705H

Domain	Start	End	E-Value	Type
RING	18	55	3.93e-3	SMART
low complexity region	198	214	N/A	INTRINSIC
PDZ	257	339	3.38e-21	SMART
PDZ	429	504	3.86e-16	SMART
low complexity region	512	526	N/A	INTRINSIC
low complexity region	660	671	N/A	INTRINSIC
low complexity region	1020	1029	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204522

Meta Mutation Damage Score

0.1782

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,502 (GRCm39)	Y199*	probably null	Het
Adhfe1	A	T	1: 9,637,029 (GRCm39)	I394F	probably benign	Het
Arhgap26	G	T	18: 39,379,893 (GRCm39)	R485L	probably damaging	Het
Atat1	T	A	17: 36,212,467 (GRCm39)	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,760,100 (GRCm39)	N309S	probably benign	Het
Bank1	A	T	3: 135,772,134 (GRCm39)	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,416,365 (GRCm39)	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,283,671 (GRCm39)		probably benign	Het
Bscl2	C	A	19: 8,825,344 (GRCm39)	T376K	probably benign	Het
Cercam	A	T	2: 29,761,033 (GRCm39)		probably null	Het
Clec4f	C	T	6: 83,633,012 (GRCm39)	M1I	probably null	Het
Clec4n	A	T	6: 123,209,066 (GRCm39)	I14F	probably benign	Het
Cmya5	T	C	13: 93,227,093 (GRCm39)	E2665G	probably damaging	Het
Cog4	T	A	8: 111,578,915 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,352,856 (GRCm39)	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,104,196 (GRCm39)	H88L	probably benign	Het
Dhdh	A	G	7: 45,128,530 (GRCm39)	L216P	probably damaging	Het
Dpp6	T	C	5: 27,871,509 (GRCm39)	F544S	probably damaging	Het
Dthd1	C	T	5: 63,045,549 (GRCm39)	T771I	probably benign	Het
Emc10	A	G	7: 44,142,612 (GRCm39)		probably null	Het
Fgg	A	T	3: 82,920,072 (GRCm39)	T284S	probably benign	Het
Gask1a	C	T	9: 121,794,784 (GRCm39)	R313W	probably damaging	Het
Gm3002	T	A	14: 3,824,737 (GRCm38)	N24K	probably damaging	Het
Gm8674	G	A	13: 50,056,034 (GRCm39)		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368 (GRCm39)	W364*	probably null	Het
Hcn4	C	G	9: 58,767,111 (GRCm39)	P891A	unknown	Het
Hcrtr1	A	T	4: 130,024,792 (GRCm39)	F365I	possibly damaging	Het
Hmcn2	A	G	2: 31,244,176 (GRCm39)		probably null	Het
Hoxc5	T	A	15: 102,923,786 (GRCm39)	L194H	probably damaging	Het
Ifna11	A	G	4: 88,738,287 (GRCm39)	N31S	probably null	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Iqgap2	A	T	13: 95,766,514 (GRCm39)	D1496E	probably benign	Het
Kif28	G	T	1: 179,536,007 (GRCm39)	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,009,502 (GRCm39)	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,678,986 (GRCm39)	D35E	probably damaging	Het
Lsm14b	A	G	2: 179,675,692 (GRCm39)		probably benign	Het
Map3k1	T	C	13: 111,909,272 (GRCm39)	E226G	probably damaging	Het
Map3k14	T	A	11: 103,130,357 (GRCm39)	N187Y	probably benign	Het
Mcm6	A	T	1: 128,263,586 (GRCm39)	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,759,022 (GRCm39)	P190Q	probably damaging	Het
Meiob	T	G	17: 25,037,353 (GRCm39)	L77R	probably damaging	Het
Mrgpra3	A	T	7: 47,239,267 (GRCm39)	F220I	probably benign	Het
Mrtfa	C	A	15: 80,929,476 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,575,817 (GRCm39)	S1324T	possibly damaging	Het
Myot	T	A	18: 44,487,995 (GRCm39)	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,263,252 (GRCm39)	T394K	possibly damaging	Het
Nf1	T	A	11: 79,456,379 (GRCm39)		probably null	Het
Nup210	T	A	6: 91,013,451 (GRCm39)	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,652 (GRCm39)	I184N	probably damaging	Het
Or10d1	C	T	9: 39,484,054 (GRCm39)	C167Y	probably damaging	Het
Or13d1	T	C	4: 52,970,960 (GRCm39)	V113A	possibly damaging	Het
Or1n1b	A	G	2: 36,780,719 (GRCm39)	I47T	probably damaging	Het
Or5k15	G	T	16: 58,709,957 (GRCm39)	Q209K	possibly damaging	Het
Padi1	A	G	4: 140,572,901 (GRCm39)	V21A	probably benign	Het
Pik3cb	T	C	9: 98,987,685 (GRCm39)	I18V	probably benign	Het
Pmpca	T	C	2: 26,280,320 (GRCm39)	S117P	probably damaging	Het
Poteg	T	A	8: 27,985,009 (GRCm39)		probably benign	Het
Pramel32	T	C	4: 88,547,432 (GRCm39)	T80A	probably damaging	Het
Rab30	G	A	7: 92,478,771 (GRCm39)	R72H	probably damaging	Het
Ramp2	T	A	11: 101,138,383 (GRCm39)		probably null	Het
Rbks	G	A	5: 31,781,876 (GRCm39)	T308I	probably damaging	Het
Rnf112	A	G	11: 61,343,752 (GRCm39)		probably benign	Het
Rnf38	G	A	4: 44,152,460 (GRCm39)	P3S	probably damaging	Het
Sec16a	A	G	2: 26,302,883 (GRCm39)	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,137,084 (GRCm39)	V109M	possibly damaging	Het
Slc28a1	A	T	7: 80,791,757 (GRCm39)	T308S	possibly damaging	Het
Slc39a3	T	C	10: 80,867,453 (GRCm39)	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,049 (GRCm39)	F731L	probably damaging	Het
Smc4	A	G	3: 68,925,572 (GRCm39)		probably benign	Het
Sparcl1	T	G	5: 104,240,776 (GRCm39)	D216A	probably damaging	Het
Speg	G	A	1: 75,364,513 (GRCm39)	R192H	probably damaging	Het
Sspo	T	C	6: 48,441,539 (GRCm39)	L1892P	probably damaging	Het
Styxl2	A	T	1: 165,954,675 (GRCm39)	V25E	probably damaging	Het
Tacc2	A	G	7: 130,225,678 (GRCm39)	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,767,979 (GRCm39)	K148*	probably null	Het
Tex15	T	A	8: 34,064,498 (GRCm39)	D1309E	probably benign	Het
Thbs1	A	T	2: 117,945,259 (GRCm39)	E277D	probably benign	Het
Ticrr	G	A	7: 79,310,158 (GRCm39)	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,502,460 (GRCm39)	E459G	probably benign	Het
Tln2	C	A	9: 67,262,407 (GRCm39)	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,026,817 (GRCm39)	V410A	probably damaging	Het
Tnrc6a	G	T	7: 122,789,095 (GRCm39)	W1638L	probably damaging	Het
Tpr	A	G	1: 150,285,810 (GRCm39)	D424G	probably damaging	Het
Trim34a	A	T	7: 103,910,271 (GRCm39)	K358*	probably null	Het
Tssk5	T	A	15: 76,258,856 (GRCm39)	D10V	possibly damaging	Het
Usp35	A	C	7: 96,962,782 (GRCm39)	L470R	probably damaging	Het
Usp42	T	C	5: 143,701,119 (GRCm39)	D968G	possibly damaging	Het
Utrn	A	G	10: 12,331,164 (GRCm39)	V2924A	probably damaging	Het
Wdtc1	C	A	4: 133,021,654 (GRCm39)	A627S	probably damaging	Het
Xrra1	A	G	7: 99,555,730 (GRCm39)	T366A	probably damaging	Het
Zfp712	T	A	13: 67,188,773 (GRCm39)	K585*	probably null	Het
Zfp97	T	A	17: 17,365,393 (GRCm39)	N297K	probably damaging	Het
Zfp97	G	T	17: 17,364,938 (GRCm39)	E146*	probably null	Het

Other mutations in Pdzrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Pdzrn3	APN	6	101,331,447 (GRCm39)	missense	probably benign	0.01
IGL01511:Pdzrn3	APN	6	101,130,217 (GRCm39)	missense	possibly damaging	0.66
IGL01554:Pdzrn3	APN	6	101,127,502 (GRCm39)	missense	probably damaging	1.00
IGL02450:Pdzrn3	APN	6	101,331,461 (GRCm39)	missense	probably damaging	1.00
IGL02505:Pdzrn3	APN	6	101,128,899 (GRCm39)	missense	possibly damaging	0.94
IGL03061:Pdzrn3	APN	6	101,128,816 (GRCm39)	missense	probably damaging	1.00
IGL03210:Pdzrn3	APN	6	101,133,913 (GRCm39)	missense	possibly damaging	0.95
gefilte	UTSW	6	101,131,153 (GRCm39)	critical splice donor site	probably null
implevit_bonis	UTSW	6	101,127,983 (GRCm39)	missense	probably benign	0.15
predisposition	UTSW	6	101,128,014 (GRCm39)	missense	probably damaging	1.00
tendency	UTSW	6	101,128,389 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Pdzrn3	UTSW	6	101,128,464 (GRCm39)	missense	probably benign	0.00
R0110:Pdzrn3	UTSW	6	101,128,014 (GRCm39)	missense	probably damaging	1.00
R0469:Pdzrn3	UTSW	6	101,128,014 (GRCm39)	missense	probably damaging	1.00
R0496:Pdzrn3	UTSW	6	101,127,531 (GRCm39)	missense	possibly damaging	0.94
R0510:Pdzrn3	UTSW	6	101,128,014 (GRCm39)	missense	probably damaging	1.00
R0883:Pdzrn3	UTSW	6	101,132,903 (GRCm39)	splice site	probably null
R1171:Pdzrn3	UTSW	6	101,127,838 (GRCm39)	missense	probably damaging	1.00
R1471:Pdzrn3	UTSW	6	101,128,473 (GRCm39)	missense	possibly damaging	0.77
R1496:Pdzrn3	UTSW	6	101,127,930 (GRCm39)	missense	probably benign	0.00
R1596:Pdzrn3	UTSW	6	101,127,966 (GRCm39)	missense	probably benign	0.03
R2033:Pdzrn3	UTSW	6	101,127,915 (GRCm39)	missense	probably damaging	1.00
R2068:Pdzrn3	UTSW	6	101,127,660 (GRCm39)	missense	probably damaging	1.00
R2084:Pdzrn3	UTSW	6	101,131,256 (GRCm39)	missense	probably benign	0.35
R2432:Pdzrn3	UTSW	6	101,127,752 (GRCm39)	missense	probably damaging	1.00
R3727:Pdzrn3	UTSW	6	101,133,906 (GRCm39)	missense	probably damaging	0.98
R3861:Pdzrn3	UTSW	6	101,149,332 (GRCm39)	missense	possibly damaging	0.95
R4616:Pdzrn3	UTSW	6	101,128,970 (GRCm39)	missense	probably damaging	0.99
R5224:Pdzrn3	UTSW	6	101,130,272 (GRCm39)	missense	probably damaging	1.00
R5226:Pdzrn3	UTSW	6	101,130,272 (GRCm39)	missense	probably damaging	1.00
R5227:Pdzrn3	UTSW	6	101,130,272 (GRCm39)	missense	probably damaging	1.00
R5230:Pdzrn3	UTSW	6	101,130,272 (GRCm39)	missense	probably damaging	1.00
R5320:Pdzrn3	UTSW	6	101,128,064 (GRCm39)	missense	probably damaging	1.00
R5414:Pdzrn3	UTSW	6	101,130,272 (GRCm39)	missense	probably damaging	1.00
R5686:Pdzrn3	UTSW	6	101,128,389 (GRCm39)	missense	probably damaging	1.00
R5772:Pdzrn3	UTSW	6	101,149,275 (GRCm39)	missense	probably benign	0.00
R6026:Pdzrn3	UTSW	6	101,339,105 (GRCm39)	missense	probably benign	0.40
R6213:Pdzrn3	UTSW	6	101,354,805 (GRCm39)	missense	probably damaging	1.00
R6518:Pdzrn3	UTSW	6	101,127,475 (GRCm39)	makesense	probably null
R6657:Pdzrn3	UTSW	6	101,127,983 (GRCm39)	missense	probably benign	0.15
R6951:Pdzrn3	UTSW	6	101,131,153 (GRCm39)	critical splice donor site	probably null
R7055:Pdzrn3	UTSW	6	101,128,735 (GRCm39)	nonsense	probably null
R7290:Pdzrn3	UTSW	6	101,128,206 (GRCm39)	missense	probably benign
R7608:Pdzrn3	UTSW	6	101,128,713 (GRCm39)	missense	probably damaging	1.00
R7834:Pdzrn3	UTSW	6	101,128,156 (GRCm39)	missense	probably damaging	0.97
R8199:Pdzrn3	UTSW	6	101,128,918 (GRCm39)	missense	probably damaging	1.00
R8338:Pdzrn3	UTSW	6	101,127,783 (GRCm39)	missense	probably benign	0.00
R8734:Pdzrn3	UTSW	6	101,128,567 (GRCm39)	missense	probably damaging	0.98
R8783:Pdzrn3	UTSW	6	101,132,841 (GRCm39)	missense	probably damaging	1.00
R9082:Pdzrn3	UTSW	6	101,146,094 (GRCm39)	critical splice donor site	probably null
R9378:Pdzrn3	UTSW	6	101,127,772 (GRCm39)	missense	probably damaging	1.00
R9499:Pdzrn3	UTSW	6	101,127,855 (GRCm39)	missense	probably damaging	1.00
R9542:Pdzrn3	UTSW	6	101,149,235 (GRCm39)	missense	probably benign	0.00
R9551:Pdzrn3	UTSW	6	101,127,855 (GRCm39)	missense	probably damaging	1.00
R9639:Pdzrn3	UTSW	6	101,146,172 (GRCm39)	missense	probably benign	0.00
R9743:Pdzrn3	UTSW	6	101,354,678 (GRCm39)	missense	probably damaging	1.00
Z1176:Pdzrn3	UTSW	6	101,128,960 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGTTGTAGGCGCTTGAAC -3'
(R):5'- CAATGAGTCCTTCATCTCTGCGG -3'

Sequencing Primer
(F):5'- AGGCGCTTGAACTATCCTTG -3'
(R):5'- ACTGTACCGATGTGGACTACCTG -3'

Posted On

2016-04-27