Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:Pdzrn3'

80785

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

039050-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R0883 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101126570-101354858 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 101132903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075376 (fasta)

Gene Model

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

AlphaFold

Q69ZS0

Predicted Effect

probably null
Transcript: ENSMUST00000075994

SMART Domains

Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357

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: ENSMUST00000124884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203474

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

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: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
4930595M18Rik	G	T	X: 80,464,537 (GRCm39)	T390N	possibly damaging	Het
Abca13	C	T	11: 9,241,238 (GRCm39)	Q1034*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Adgra3	T	C	5: 50,118,065 (GRCm39)	H1161R	probably damaging	Het
Aff1	T	C	5: 103,974,004 (GRCm39)		probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 66,292,127 (GRCm39)	V1102A	probably benign	Het
Ankrd54	A	T	15: 78,946,931 (GRCm39)	C23S	probably damaging	Het
Anxa10	C	T	8: 62,531,001 (GRCm39)	V70I	probably benign	Het
Asap3	T	C	4: 135,961,636 (GRCm39)		probably benign	Het
Asb13	T	C	13: 3,695,052 (GRCm39)		probably null	Het
Atp6v1a	A	T	16: 43,922,055 (GRCm39)		probably benign	Het
Atp8b1	T	G	18: 64,697,612 (GRCm39)	I411L	probably benign	Het
Baiap3	T	A	17: 25,468,075 (GRCm39)	N313I	probably damaging	Het
Bok	T	C	1: 93,614,209 (GRCm39)	I14T	probably benign	Het
Bri3bp	T	A	5: 125,518,808 (GRCm39)		probably null	Het
C2cd2l	A	G	9: 44,227,499 (GRCm39)	L186P	probably damaging	Het
Cadm2	A	T	16: 66,679,702 (GRCm39)	C44S	probably damaging	Het
Capn11	T	C	17: 45,949,807 (GRCm39)		probably benign	Het
Carm1	T	A	9: 21,480,887 (GRCm39)		probably benign	Het
Ccdc27	T	C	4: 154,120,941 (GRCm39)	E285G	unknown	Het
Cct3	T	A	3: 88,220,864 (GRCm39)	D298E	probably damaging	Het
Cd59b	T	A	2: 103,911,331 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Celsr3	T	A	9: 108,719,832 (GRCm39)	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,392,888 (GRCm39)		probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap45	A	T	1: 172,359,756 (GRCm39)	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,706,531 (GRCm39)	H2757L	unknown	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cntn4	A	T	6: 106,644,501 (GRCm39)		probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Daam2	A	T	17: 49,805,911 (GRCm39)		probably benign	Het
Ddias	A	T	7: 92,508,545 (GRCm39)	W457R	probably benign	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Dhx57	T	C	17: 80,577,800 (GRCm39)	T570A	probably damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,729,510 (GRCm39)	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,956,699 (GRCm39)	M286I	probably benign	Het
Eea1	G	A	10: 95,857,529 (GRCm39)	D664N	possibly damaging	Het
Esp6	G	T	17: 40,876,287 (GRCm39)	V112L	probably benign	Het
Fam83h	G	T	15: 75,878,018 (GRCm39)	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474 (GRCm39)	T802I	probably benign	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gm5941	G	A	X: 91,533,817 (GRCm39)	A62T	possibly damaging	Het
Gng2	G	T	14: 19,941,363 (GRCm39)	D26E	probably benign	Het
Gpr33	A	G	12: 52,070,418 (GRCm39)	V207A	probably benign	Het
Gstm3	T	A	3: 107,873,586 (GRCm39)		probably benign	Het
Havcr1	T	C	11: 46,643,259 (GRCm39)	C60R	probably damaging	Het
Hspg2	T	C	4: 137,268,751 (GRCm39)	S2157P	probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Igsf8	C	A	1: 172,143,826 (GRCm39)	A56D	possibly damaging	Het
Kat6a	G	T	8: 23,352,230 (GRCm39)	A5S	probably damaging	Het
Kctd16	A	G	18: 40,663,828 (GRCm39)	E319G	probably damaging	Het
Kmo	T	C	1: 175,474,706 (GRCm39)	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,655,308 (GRCm39)	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,766,276 (GRCm39)	T253A	probably benign	Het
Mast2	T	A	4: 116,168,964 (GRCm39)	H769L	probably damaging	Het
Mast4	T	C	13: 102,990,408 (GRCm39)	K50E	probably damaging	Het
Mbd5	A	G	2: 49,146,701 (GRCm39)	T304A	possibly damaging	Het
Mbp	T	C	18: 82,590,995 (GRCm39)	S73P	probably damaging	Het
Mc5r	T	A	18: 68,472,163 (GRCm39)	V174E	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Minar1	T	C	9: 89,484,470 (GRCm39)	H309R	probably benign	Het
Mlh3	C	G	12: 85,282,488 (GRCm39)	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,278,228 (GRCm39)		probably benign	Het
Muc5ac	A	G	7: 141,350,002 (GRCm39)	T582A	possibly damaging	Het
Nalcn	A	G	14: 123,702,152 (GRCm39)	F453S	probably damaging	Het
Nrap	T	A	19: 56,333,906 (GRCm39)	M902L	probably damaging	Het
Nup85	C	T	11: 115,459,196 (GRCm39)	R100*	probably null	Het
Nxf1	T	G	19: 8,741,955 (GRCm39)	N296K	probably damaging	Het
Ogg1	A	G	6: 113,305,381 (GRCm39)	T65A	probably damaging	Het
Ogt	A	G	X: 100,687,805 (GRCm39)		probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Or56b1b	T	A	7: 108,164,483 (GRCm39)	N173I	probably benign	Het
Ovol2	T	C	2: 144,173,710 (GRCm39)	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,298 (GRCm39)		probably benign	Het
Pak6	T	C	2: 118,524,168 (GRCm39)	L441P	probably damaging	Het
Pappa	T	A	4: 65,107,552 (GRCm39)	C654*	probably null	Het
Paqr6	T	A	3: 88,273,298 (GRCm39)	S97T	probably damaging	Het
Parp14	T	C	16: 35,678,888 (GRCm39)	N360S	probably benign	Het
Pclo	G	T	5: 14,727,873 (GRCm39)	G2244*	probably null	Het
Pes1	T	C	11: 3,925,557 (GRCm39)	M220T	probably damaging	Het
Phip	A	T	9: 82,758,274 (GRCm39)	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,563,321 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,660,677 (GRCm39)	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,925,459 (GRCm39)	T1419A	probably benign	Het
Ppara	A	T	15: 85,682,372 (GRCm39)	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,266,102 (GRCm39)	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,642,709 (GRCm39)	E545G	possibly damaging	Het
Proser3	G	A	7: 30,240,124 (GRCm39)	H327Y	probably damaging	Het
Prss43	T	A	9: 110,658,576 (GRCm39)	I292N	probably damaging	Het
Pwwp3b	T	A	X: 138,136,444 (GRCm39)	D327E	probably damaging	Het
Pygl	G	C	12: 70,253,178 (GRCm39)	N271K	probably damaging	Het
Rassf7	T	A	7: 140,796,903 (GRCm39)		probably benign	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Rspo1	T	A	4: 124,885,225 (GRCm39)		probably null	Het
Sav1	A	C	12: 70,012,979 (GRCm39)	L366V	probably benign	Het
Sema3b	T	G	9: 107,481,355 (GRCm39)	T52P	possibly damaging	Het
Senp6	A	G	9: 80,023,841 (GRCm39)	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,256,646 (GRCm39)	S719P	probably damaging	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Slc34a3	G	T	2: 25,121,245 (GRCm39)	D307E	probably benign	Het
Slc35b3	T	C	13: 39,121,251 (GRCm39)	I330V	probably benign	Het
Slc4a10	G	A	2: 62,073,742 (GRCm39)	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,349,124 (GRCm39)	E65G	probably benign	Het
Slit2	A	G	5: 48,402,915 (GRCm39)		probably benign	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Snap47	A	G	11: 59,329,326 (GRCm39)		probably benign	Het
Snrnp25	G	A	11: 32,156,960 (GRCm39)	V15I	probably damaging	Het
Spns2	T	C	11: 72,345,223 (GRCm39)	Y449C	probably damaging	Het
Stab2	T	A	10: 86,760,314 (GRCm39)		probably benign	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003 (GRCm39)	K745*	probably null	Het
Tctn1	T	C	5: 122,402,207 (GRCm39)	T76A	probably damaging	Het
Tesl1	A	T	X: 23,773,290 (GRCm39)	I264F	probably benign	Het
Tfpi	T	C	2: 84,273,664 (GRCm39)		probably benign	Het
Timm44	A	T	8: 4,316,592 (GRCm39)	H317Q	probably benign	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,554,992 (GRCm39)		probably benign	Het
Top3b	T	C	16: 16,697,301 (GRCm39)		probably benign	Het
Trak1	T	A	9: 121,282,351 (GRCm39)	M410K	possibly damaging	Het
Trpm3	C	A	19: 22,956,018 (GRCm39)	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,022,433 (GRCm39)	T799S	possibly damaging	Het
Ubfd1	G	A	7: 121,666,714 (GRCm39)		probably benign	Het
Unc13a	G	A	8: 72,094,817 (GRCm39)	R1272*	probably null	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,757,709 (GRCm39)	Q1139*	probably null	Het
Vmn2r66	A	T	7: 84,657,070 (GRCm39)	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,272,842 (GRCm39)	D552V	probably benign	Het
Vmn2r76	A	G	7: 85,877,904 (GRCm39)	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,226,984 (GRCm39)	W285G	probably damaging	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Yaf2	T	C	15: 93,183,417 (GRCm39)	K131R	probably damaging	Het
Zfp141	A	T	7: 42,125,480 (GRCm39)	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,704,951 (GRCm39)	C380F	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zfpm1	C	T	8: 123,062,585 (GRCm39)	T548M	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		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
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
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'- ACCCTGCATTTCCATCCTGAGAGC -3'
(R):5'- GTCCCACTTGCCCCAATTATACAGC -3'

Sequencing Primer
(F):5'- CCATCCTGAGAGCGATTTCTGG -3'
(R):5'- CCCAATTATACAGCTCACTTTTCAAG -3'

Posted On

2013-11-07