Mutagenetix > Incidental Mutation

Incidental Mutation 'R0496:Pdzrn3'

43924

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn3

Ensembl Gene

ENSMUSG00000035357

Gene Name

PDZ domain containing RING finger 3

Synonyms

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

MMRRC Submission

038692-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R0496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101149609-101377897 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101150570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1045 (T1045I)

Ref Sequence

ENSEMBL: ENSMUSP00000075376 (fasta)

Gene Model

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

AlphaFold

Q69ZS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075994
AA Change: T1045I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075376
Gene: ENSMUSG00000035357
AA Change: T1045I

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

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

98% (99/101)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,244	K1065E	probably damaging	Het
4932438A13Rik	A	G	3: 36,987,635	T2721A	probably damaging	Het
4933402N03Rik	T	C	7: 131,146,131	N44S	probably benign	Het
Abca13	A	G	11: 9,291,701	D1188G	probably benign	Het
Abcb11	C	T	2: 69,277,884		probably benign	Het
Abcc8	A	T	7: 46,108,820	I1274N	probably damaging	Het
Adamtsl1	G	A	4: 86,341,198	C827Y	probably damaging	Het
Agap3	T	A	5: 24,501,243	V369E	probably damaging	Het
Ankrd13b	G	A	11: 77,473,041	R195C	probably damaging	Het
Ap3b1	A	G	13: 94,472,938		probably benign	Het
Arhgef40	A	T	14: 52,004,907		probably benign	Het
Atad5	A	G	11: 80,100,356	I692V	probably benign	Het
Atp5b	G	T	10: 128,086,174	R310L	possibly damaging	Het
AY358078	A	T	14: 51,803,532	M103L	unknown	Het
Bcl9l	T	G	9: 44,509,518	V1370G	probably benign	Het
Bglap3	T	A	3: 88,369,137	Q38L	probably damaging	Het
Cd38	T	C	5: 43,868,891	F6L	probably damaging	Het
Cela3a	A	C	4: 137,404,468	V138G	probably damaging	Het
Clvs1	T	A	4: 9,424,241	I229N	probably damaging	Het
Cpne1	G	A	2: 156,079,419	H16Y	probably damaging	Het
Ctc1	T	C	11: 69,035,507	L1069P	probably damaging	Het
Ctgf	G	T	10: 24,597,515	M317I	possibly damaging	Het
Dgkd	G	A	1: 87,936,900	S996N	probably null	Het
Dnah9	A	T	11: 66,075,135	M1685K	probably null	Het
Dnajb12	C	T	10: 59,879,801	R42*	probably null	Het
Dock5	T	C	14: 67,817,518	Q633R	probably damaging	Het
Dync2h1	A	G	9: 7,155,180	M868T	probably benign	Het
Enpp1	G	T	10: 24,672,052	H208Q	probably benign	Het
Epha7	T	A	4: 28,821,292	D152E	probably damaging	Het
Fancd2	T	C	6: 113,555,130		probably benign	Het
Gart	G	A	16: 91,623,037		probably benign	Het
Gm10964	A	T	3: 103,739,429		probably null	Het
Gm7075	G	T	10: 63,421,602	C46*	probably null	Het
Gpbar1	T	C	1: 74,278,981	F128L	probably benign	Het
Gsx2	T	A	5: 75,077,065	M226K	probably benign	Het
Gucd1	T	C	10: 75,511,266	D50G	possibly damaging	Het
Has1	A	G	17: 17,843,746	Y544H	probably benign	Het
Hc	A	T	2: 35,013,571	Y1024N	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,260,635		probably null	Het
Ift122	T	A	6: 115,905,902	H659Q	probably benign	Het
Itga2	T	C	13: 114,853,899	Q902R	probably benign	Het
Itgb2l	T	C	16: 96,434,701	K181E	possibly damaging	Het
Jak3	A	T	8: 71,682,397	H558L	probably damaging	Het
Kcnh8	A	G	17: 52,725,858	T58A	probably benign	Het
Klhl6	GT	G	16: 19,956,966	279	probably null	Het
Krt33a	C	T	11: 100,012,329		probably benign	Het
Magi2	A	T	5: 20,661,359		probably benign	Het
Map4	G	A	9: 110,039,850		probably benign	Het
Map4k4	T	A	1: 40,006,822	S754T	probably damaging	Het
Mapk8ip3	A	G	17: 24,914,450		probably benign	Het
Mib1	A	G	18: 10,804,773	S918G	probably benign	Het
Mipol1	T	A	12: 57,457,177	V377D	probably damaging	Het
Mlh1	T	C	9: 111,241,556	T364A	probably benign	Het
Mta1	C	T	12: 113,131,321	Q400*	probably null	Het
Mthfd1l	C	G	10: 4,090,006	R806G	probably benign	Het
Myh13	C	A	11: 67,348,815	N730K	probably damaging	Het
Myom1	A	G	17: 71,084,306	K937E	probably damaging	Het
Naxd	T	C	8: 11,510,224		probably benign	Het
Negr1	G	T	3: 157,016,267	K159N	probably damaging	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1170	A	T	2: 88,224,155	Y292*	probably null	Het
Olfr137	A	G	17: 38,304,658	S268P	probably damaging	Het
Olfr397	T	C	11: 73,964,880	S91P	probably benign	Het
Olfr584	T	C	7: 103,085,590	I19T	probably damaging	Het
Olfr620	C	T	7: 103,611,997	A119T	probably benign	Het
Pcsk6	G	A	7: 65,927,249	S58N	probably benign	Het
Pitrm1	T	C	13: 6,568,714	L641P	probably damaging	Het
Pkd1l1	G	T	11: 8,929,430	H474N	probably damaging	Het
Pltp	A	G	2: 164,852,461		probably benign	Het
Qtrt1	C	T	9: 21,419,548	T324M	probably benign	Het
Racgap1	A	T	15: 99,639,832		probably benign	Het
Rhbg	A	G	3: 88,254,498	V50A	probably benign	Het
Rnf135	G	A	11: 80,183,950	V12M	probably damaging	Het
Rufy2	T	C	10: 62,993,170	V117A	probably damaging	Het
Safb	A	G	17: 56,605,630	M866V	probably benign	Het
Slc35c2	G	T	2: 165,280,815	T183K	probably damaging	Het
Slc39a7	A	G	17: 34,029,538	L377P	probably damaging	Het
Slit1	G	A	19: 41,608,311		probably benign	Het
Spaca9	G	A	2: 28,693,010	H133Y	probably damaging	Het
Spout1	A	G	2: 30,174,971	F339S	probably benign	Het
St6gal2	A	G	17: 55,482,014	I16M	probably damaging	Het
Stat2	T	C	10: 128,276,509	M6T	probably benign	Het
Swt1	T	A	1: 151,411,270	H157L	probably benign	Het
Syne2	A	G	12: 76,038,940	N147D	possibly damaging	Het
Tmem2	A	T	19: 21,797,345	N117I	possibly damaging	Het
Tmem222	A	T	4: 133,277,591	M45K	possibly damaging	Het
Tmem30a	T	A	9: 79,777,285	H95L	probably damaging	Het
Tns3	A	C	11: 8,547,262		probably benign	Het
Trpm3	A	G	19: 22,698,778	I103V	probably benign	Het
Ube2n	T	C	10: 95,541,344	F57S	probably benign	Het
Vil1	T	C	1: 74,421,340	S219P	possibly damaging	Het
Wdfy4	A	G	14: 33,140,738		probably benign	Het
Wdr7	T	C	18: 63,791,843	S966P	probably benign	Het
Wnt8a	A	G	18: 34,544,847	N103D	probably damaging	Het
Zfp523	G	A	17: 28,200,445	E186K	possibly damaging	Het
Zfp791	A	T	8: 85,109,980	D418E	probably benign	Het
Zscan20	A	G	4: 128,591,889	V192A	probably benign	Het

Other mutations in Pdzrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Pdzrn3	APN	6	101354486	missense	probably benign	0.01
IGL01511:Pdzrn3	APN	6	101153256	missense	possibly damaging	0.66
IGL01554:Pdzrn3	APN	6	101150541	missense	probably damaging	1.00
IGL02450:Pdzrn3	APN	6	101354500	missense	probably damaging	1.00
IGL02505:Pdzrn3	APN	6	101151938	missense	possibly damaging	0.94
IGL03061:Pdzrn3	APN	6	101151855	missense	probably damaging	1.00
IGL03210:Pdzrn3	APN	6	101156952	missense	possibly damaging	0.95
gefilte	UTSW	6	101154192	critical splice donor site	probably null
implevit_bonis	UTSW	6	101151022	missense	probably benign	0.15
predisposition	UTSW	6	101151053	missense	probably damaging	1.00
tendency	UTSW	6	101151428	missense	probably damaging	1.00
PIT4581001:Pdzrn3	UTSW	6	101151503	missense	probably benign	0.00
R0110:Pdzrn3	UTSW	6	101151053	missense	probably damaging	1.00
R0469:Pdzrn3	UTSW	6	101151053	missense	probably damaging	1.00
R0510:Pdzrn3	UTSW	6	101151053	missense	probably damaging	1.00
R0883:Pdzrn3	UTSW	6	101155942	splice site	probably null
R1171:Pdzrn3	UTSW	6	101150877	missense	probably damaging	1.00
R1471:Pdzrn3	UTSW	6	101151512	missense	possibly damaging	0.77
R1496:Pdzrn3	UTSW	6	101150969	missense	probably benign	0.00
R1596:Pdzrn3	UTSW	6	101151005	missense	probably benign	0.03
R2033:Pdzrn3	UTSW	6	101150954	missense	probably damaging	1.00
R2068:Pdzrn3	UTSW	6	101150699	missense	probably damaging	1.00
R2084:Pdzrn3	UTSW	6	101154295	missense	probably benign	0.35
R2432:Pdzrn3	UTSW	6	101150791	missense	probably damaging	1.00
R3727:Pdzrn3	UTSW	6	101156945	missense	probably damaging	0.98
R3861:Pdzrn3	UTSW	6	101172371	missense	possibly damaging	0.95
R4616:Pdzrn3	UTSW	6	101152009	missense	probably damaging	0.99
R4967:Pdzrn3	UTSW	6	101151590	missense	probably damaging	1.00
R5224:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5226:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5227:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5230:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5320:Pdzrn3	UTSW	6	101151103	missense	probably damaging	1.00
R5414:Pdzrn3	UTSW	6	101153311	missense	probably damaging	1.00
R5686:Pdzrn3	UTSW	6	101151428	missense	probably damaging	1.00
R5772:Pdzrn3	UTSW	6	101172314	missense	probably benign	0.00
R6026:Pdzrn3	UTSW	6	101362144	missense	probably benign	0.40
R6213:Pdzrn3	UTSW	6	101377844	missense	probably damaging	1.00
R6518:Pdzrn3	UTSW	6	101150514	makesense	probably null
R6657:Pdzrn3	UTSW	6	101151022	missense	probably benign	0.15
R6951:Pdzrn3	UTSW	6	101154192	critical splice donor site	probably null
R7055:Pdzrn3	UTSW	6	101151774	nonsense	probably null
R7290:Pdzrn3	UTSW	6	101151245	missense	probably benign
R7608:Pdzrn3	UTSW	6	101151752	missense	probably damaging	1.00
R7834:Pdzrn3	UTSW	6	101151195	missense	probably damaging	0.97
R8199:Pdzrn3	UTSW	6	101151957	missense	probably damaging	1.00
R8338:Pdzrn3	UTSW	6	101150822	missense	probably benign	0.00
R8734:Pdzrn3	UTSW	6	101151606	missense	probably damaging	0.98
R8783:Pdzrn3	UTSW	6	101155880	missense	probably damaging	1.00
R9082:Pdzrn3	UTSW	6	101169133	critical splice donor site	probably null
R9378:Pdzrn3	UTSW	6	101150811	missense	probably damaging	1.00
R9499:Pdzrn3	UTSW	6	101150894	missense	probably damaging	1.00
R9542:Pdzrn3	UTSW	6	101172274	missense	probably benign	0.00
R9551:Pdzrn3	UTSW	6	101150894	missense	probably damaging	1.00
R9639:Pdzrn3	UTSW	6	101169211	missense	probably benign	0.00
R9743:Pdzrn3	UTSW	6	101377717	missense	probably damaging	1.00
Z1176:Pdzrn3	UTSW	6	101151999	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACCCAAAGTTGCAGGAGTGG -3'
(R):5'- GCAAGCAACATCTGGTGAAGGC -3'

Sequencing Primer
(F):5'- CAGGAGTGGCAAATTTAGACTATC -3'
(R):5'- CATCTGGTGAAGGCCAAGG -3'

Posted On

2013-05-29