Mutagenetix > Incidental Mutation

Incidental Mutation 'R2068:Pdzrn3'

226830

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

040073-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R2068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101126570-101354858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101127660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1002 (E1002G)

Ref Sequence

ENSEMBL: ENSMUSP00000075376 (fasta)

Gene Model

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

AlphaFold

Q69ZS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000075994
AA Change: E1002G

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

SMART Domains

Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: E1002G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205008

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
Abcb5	A	T	12: 118,904,303 (GRCm39)	C162*	probably null	Het
Akr1c19	A	T	13: 4,288,391 (GRCm39)		probably null	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bsn	T	G	9: 107,987,883 (GRCm39)		probably benign	Het
Bsn	T	A	9: 108,003,749 (GRCm39)	M219L	possibly damaging	Het
Btnl9	T	C	11: 49,060,390 (GRCm39)	T453A	probably damaging	Het
C6	G	T	15: 4,820,552 (GRCm39)	C521F	probably damaging	Het
Ccnt1	A	T	15: 98,449,823 (GRCm39)	H156Q	probably benign	Het
Cdh20	A	T	1: 110,065,666 (GRCm39)	R647*	probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cmya5	T	A	13: 93,227,032 (GRCm39)	K2685N	possibly damaging	Het
Cnksr2	A	C	X: 156,728,302 (GRCm39)	S224R	possibly damaging	Het
Cntn1	T	C	15: 92,215,943 (GRCm39)	V992A	possibly damaging	Het
Dapk1	G	A	13: 60,899,022 (GRCm39)	D831N	probably damaging	Het
Dnaaf3	T	C	7: 4,526,798 (GRCm39)	I426M	possibly damaging	Het
Dnah6	A	G	6: 72,998,165 (GRCm39)	Y4034H	probably benign	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Eps8	A	T	6: 137,499,172 (GRCm39)	W239R	probably benign	Het
Fance	T	C	17: 28,539,799 (GRCm39)	F83S	possibly damaging	Het
Fn1	A	G	1: 71,639,598 (GRCm39)	V1731A	probably damaging	Het
Gak	G	T	5: 108,718,091 (GRCm39)	T1244K	probably benign	Het
Gas8	T	A	8: 124,253,276 (GRCm39)	I208N	probably damaging	Het
Gm9830	A	T	9: 44,375,579 (GRCm39)		noncoding transcript	Het
Gm9837	T	A	11: 53,361,092 (GRCm39)		probably benign	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hdac3	C	A	18: 38,076,569 (GRCm39)	G257V	probably damaging	Het
Heg1	A	G	16: 33,547,960 (GRCm39)	T916A	probably benign	Het
Herc2	G	T	7: 55,782,245 (GRCm39)	G1311C	probably damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Itm2b	T	C	14: 73,600,575 (GRCm39)	K242E	probably damaging	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Klrg2	G	A	6: 38,613,928 (GRCm39)	T25I	probably benign	Het
Lcn5	G	A	2: 25,548,053 (GRCm39)	V21M	probably damaging	Het
Liat1	T	C	11: 75,891,077 (GRCm39)	S64P	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lrrn3	A	T	12: 41,502,995 (GRCm39)	S441T	probably damaging	Het
Mpdz	G	A	4: 81,254,067 (GRCm39)	R1W	probably null	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mpzl2	G	A	9: 44,955,169 (GRCm39)		probably null	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Notch3	A	G	17: 32,354,482 (GRCm39)	C1748R	probably benign	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oasl2	A	C	5: 115,049,298 (GRCm39)	D466A	probably benign	Het
Opa3	T	C	7: 18,978,739 (GRCm39)	I68T	possibly damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2ag1	T	A	7: 106,313,373 (GRCm39)	R172W	probably benign	Het
Or2d3c	T	G	7: 106,526,162 (GRCm39)	Y168S	probably damaging	Het
Or5p63	T	C	7: 107,811,547 (GRCm39)	Y63C	probably damaging	Het
Or8g37	T	C	9: 39,731,846 (GRCm39)	F304L	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pik3c2a	A	T	7: 115,972,126 (GRCm39)	L768*	probably null	Het
Plxna4	A	G	6: 32,494,551 (GRCm39)	S22P	possibly damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Pramel11	T	C	4: 143,623,482 (GRCm39)	M231V	probably damaging	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Pum1	A	G	4: 130,501,745 (GRCm39)	T845A	probably benign	Het
Rad21l	T	C	2: 151,509,927 (GRCm39)	H58R	probably damaging	Het
Rgma	A	C	7: 73,059,379 (GRCm39)	D161A	probably damaging	Het
Scai	T	C	2: 39,013,025 (GRCm39)	Y135C	probably damaging	Het
Scn2a	T	A	2: 65,582,417 (GRCm39)	H1588Q	probably benign	Het
Sdha	A	T	13: 74,472,087 (GRCm39)		probably null	Het
Slc12a3	A	G	8: 95,072,456 (GRCm39)	D658G	probably damaging	Het
Slc5a3	A	G	16: 91,874,128 (GRCm39)	S62G	probably damaging	Het
Spata13	GTTAGGCT	GT	14: 60,998,320 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,910,627 (GRCm39)	I649V	probably damaging	Het
Thbs1	C	T	2: 117,954,018 (GRCm39)	Q1090*	probably null	Het
Tjp2	C	A	19: 24,099,687 (GRCm39)	R400L	probably benign	Het
Tle4	A	T	19: 14,427,113 (GRCm39)	Y769*	probably null	Het
Trmt5	A	T	12: 73,331,444 (GRCm39)		probably null	Het
Troap	T	C	15: 98,980,344 (GRCm39)	L508P	probably benign	Het
Ubac2	T	A	14: 122,145,691 (GRCm39)	Y116*	probably null	Het
Ugt2b36	T	C	5: 87,240,100 (GRCm39)	E95G	probably benign	Het
Ush1c	T	C	7: 45,878,905 (GRCm39)	Y74C	probably damaging	Het
Usp36	T	C	11: 118,165,844 (GRCm39)	T160A	possibly damaging	Het
Usp54	G	T	14: 20,627,273 (GRCm39)	P462T	probably damaging	Het
Vmn1r55	A	G	7: 5,150,048 (GRCm39)	V125A	possibly damaging	Het
Vps11	A	G	9: 44,269,613 (GRCm39)	S213P	probably damaging	Het
Zfp668	C	T	7: 127,465,837 (GRCm39)	G449D	probably benign	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
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
R4967:Pdzrn3	UTSW	6	101,128,551 (GRCm39)	missense	probably damaging	1.00
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'- ACAGGAAGGAATTGTATACCCTAG -3'
(R):5'- AGTGAAGATCCGCAGTGACG -3'

Sequencing Primer
(F):5'- AGGAATTGTATACCCTAGTGCCGTC -3'
(R):5'- TACATCACCAAGAGGCCGGTG -3'

Posted On

2014-09-17