Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:Pdzrn3'

547849

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

045152-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101126570-101354858 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 101128735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 644 (E644*)

Ref Sequence

ENSEMBL: ENSMUSP00000075376 (fasta)

Gene Model

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

AlphaFold

Q69ZS0

Predicted Effect

probably null
Transcript: ENSMUST00000075994
AA Change: E644*

SMART Domains

Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: E644*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,083 (GRCm39)	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 78,903,681 (GRCm39)	E212K	probably damaging	Het
Abcc4	A	T	14: 118,832,197 (GRCm39)	L736*	probably null	Het
Acmsd	A	T	1: 127,681,570 (GRCm39)	M178L	probably benign	Het
Adpgk	T	A	9: 59,220,476 (GRCm39)	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909 (GRCm39)	R149H	possibly damaging	Het
Aox1	A	G	1: 58,338,927 (GRCm39)	T307A	probably benign	Het
C1galt1	T	C	6: 7,866,585 (GRCm39)	Y144H	probably damaging	Het
Cabin1	G	C	10: 75,579,117 (GRCm39)	Q440E	probably benign	Het
Casq2	A	G	3: 102,049,561 (GRCm39)	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,558,342 (GRCm39)	I490T	probably damaging	Het
Cep170b	T	A	12: 112,702,149 (GRCm39)	V314E	probably damaging	Het
Col4a4	T	C	1: 82,496,757 (GRCm39)	E413G	unknown	Het
Cyp3a25	A	C	5: 145,929,801 (GRCm39)	F189L	probably benign	Het
Dido1	T	A	2: 180,303,002 (GRCm39)	H1634L	probably benign	Het
Dnaja2	A	C	8: 86,275,303 (GRCm39)	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291 (GRCm39)		probably null	Het
Eomes	A	T	9: 118,309,567 (GRCm39)	N240I	possibly damaging	Het
Fads6	A	G	11: 115,176,229 (GRCm39)	F199L	probably benign	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fndc4	T	C	5: 31,451,522 (GRCm39)	E153G	probably benign	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,954,775 (GRCm39)		probably null	Het
Fzr1	T	C	10: 81,206,057 (GRCm39)	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,067,856 (GRCm39)	M209L	unknown	Het
Gpr33	A	G	12: 52,071,036 (GRCm39)	M1T	probably null	Het
Gtf2a1	A	T	12: 91,553,523 (GRCm39)	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,923,210 (GRCm39)	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,703,730 (GRCm39)	T212I	probably damaging	Het
Jag1	A	G	2: 136,957,409 (GRCm39)	V101A	probably benign	Het
Kansl3	A	T	1: 36,404,701 (GRCm39)	V83D	possibly damaging	Het
Krt81	T	A	15: 101,359,006 (GRCm39)	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,200,591 (GRCm39)	S17L	unknown	Het
Macf1	A	T	4: 123,302,989 (GRCm39)	H504Q	probably benign	Het
Map2	A	G	1: 66,455,983 (GRCm39)	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,770,982 (GRCm39)	T892A	probably damaging	Het
Mcl1	G	A	3: 95,567,110 (GRCm39)	V178I	probably benign	Het
Mrs2	T	A	13: 25,188,937 (GRCm39)	M126L	probably benign	Het
Msantd1	C	A	5: 35,075,005 (GRCm39)	N9K	probably benign	Het
Myh9	C	T	15: 77,659,398 (GRCm39)	R116H	probably damaging	Het
Nfib	A	T	4: 82,248,662 (GRCm39)	D308E	probably benign	Het
Nme2	T	A	11: 93,846,416 (GRCm39)	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,292,286 (GRCm39)	D111G	probably benign	Het
Or5d37	T	A	2: 87,924,045 (GRCm39)	L78F	probably damaging	Het
Papss2	T	C	19: 32,641,827 (GRCm39)	W501R	probably damaging	Het
Parn	A	G	16: 13,443,998 (GRCm39)	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,623,864 (GRCm39)	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,465,771 (GRCm39)	N102D	probably benign	Het
Pi4ka	T	A	16: 17,134,879 (GRCm39)		probably benign	Het
Polg2	A	G	11: 106,668,040 (GRCm39)	F216L	probably damaging	Het
Prkcsh	A	G	9: 21,924,457 (GRCm39)	*522W	probably null	Het
Prkcz	G	T	4: 155,374,091 (GRCm39)	D108E	probably benign	Het
Pros1	T	C	16: 62,748,465 (GRCm39)	V646A	possibly damaging	Het
Ptprc	A	G	1: 138,017,309 (GRCm39)	I483T	probably damaging	Het
Rabep2	T	C	7: 126,044,485 (GRCm39)	I527T	possibly damaging	Het
Rad50	T	C	11: 53,578,929 (GRCm39)	K543R	probably benign	Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Sbpl	A	T	17: 24,172,276 (GRCm39)	N214K	unknown	Het
Scgb2b11	C	T	7: 31,909,907 (GRCm39)	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,956,284 (GRCm39)	E331K	probably damaging	Het
Snx6	A	T	12: 54,830,864 (GRCm39)	L32Q	probably damaging	Het
Srgap3	T	A	6: 112,723,924 (GRCm39)	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157 (GRCm39)	D135G	probably damaging	Het
Steap4	A	G	5: 8,026,858 (GRCm39)	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275 (GRCm39)	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642 (GRCm39)	F797Y	probably benign	Het
Tmem116	T	C	5: 121,605,987 (GRCm39)	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 144,951,457 (GRCm39)	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,991,987 (GRCm39)	Q622K	possibly damaging	Het
Top1mt	A	G	15: 75,550,523 (GRCm39)	V28A	probably benign	Het
Trim25	T	C	11: 88,890,750 (GRCm39)	S146P	probably benign	Het
Tuba3b	A	G	6: 145,566,935 (GRCm39)	D392G	possibly damaging	Het
Utrn	C	T	10: 12,623,665 (GRCm39)	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy2	T	A	14: 63,137,748 (GRCm39)	S84T	probably benign	Het
Zfp873	T	A	10: 81,895,832 (GRCm39)	F225I	probably damaging	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
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
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'- CCTTGAGCTGTTGCATCTTG -3'
(R):5'- AGCACCCGCAATGATGAGAG -3'

Sequencing Primer
(F):5'- CGCGCACGATGCTCAGG -3'
(R):5'- CCCGCAATGATGAGAGCTCAG -3'

Posted On

2019-05-13