Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Pdzrn4'

359195

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

MMRRC Submission

041961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 92770252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 762 (R762*)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035399] [ENSMUST00000169942]

AlphaFold

E9PUZ9

Predicted Effect

probably null
Transcript: ENSMUST00000035399
AA Change: R523*

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: R523*

Domain	Start	End	E-Value	Type
Blast:PDZ	1	56	4e-24	BLAST
SCOP:d1qaua_	20	61	1e-3	SMART
PDB:1UHP\|A	21	64	9e-12	PDB
PDZ	154	229	3.01e-18	SMART
low complexity region	240	259	N/A	INTRINSIC
low complexity region	267	278	N/A	INTRINSIC
coiled coil region	394	430	N/A	INTRINSIC
low complexity region	563	577	N/A	INTRINSIC
low complexity region	696	709	N/A	INTRINSIC
low complexity region	732	741	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000169942
AA Change: R762*

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: R762*

Domain	Start	End	E-Value	Type
RING	22	56	1.38e-1	SMART
low complexity region	101	124	N/A	INTRINSIC
PDZ	213	295	3.82e-20	SMART
PDZ	393	468	3.01e-18	SMART
low complexity region	479	498	N/A	INTRINSIC
low complexity region	506	517	N/A	INTRINSIC
coiled coil region	633	669	N/A	INTRINSIC
low complexity region	802	816	N/A	INTRINSIC
low complexity region	935	948	N/A	INTRINSIC
low complexity region	971	980	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,904 (GRCm38)	M1V	probably null	Het
Abcb11	T	A	2: 69,323,962 (GRCm38)	T87S	possibly damaging	Het
Arap3	A	G	18: 37,996,275 (GRCm38)	V210A	probably benign	Het
Avl9	T	C	6: 56,736,494 (GRCm38)	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,482,720 (GRCm38)	K222R	probably benign	Het
Cdhr18	T	C	14: 13,845,292 (GRCm38)	N540S	probably benign	Het
Cfap96	A	T	8: 45,970,417 (GRCm38)	M86K	possibly damaging	Het
Chsy3	C	A	18: 59,179,413 (GRCm38)	F319L	probably benign	Het
Coro2b	T	C	9: 62,426,578 (GRCm38)	T345A	probably benign	Het
Cpb1	A	G	3: 20,263,712 (GRCm38)	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,072,334 (GRCm38)	I213V	probably benign	Het
Dcaf15	A	G	8: 84,097,728 (GRCm38)	C586R	probably benign	Het
Ddr2	T	A	1: 169,998,088 (GRCm38)	E314D	probably benign	Het
Dennd5a	C	T	7: 109,896,336 (GRCm38)	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,834,115 (GRCm38)	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,906,999 (GRCm38)		probably null	Het
Eif2ak4	A	T	2: 118,422,087 (GRCm38)	H302L	probably damaging	Het
Eif2d	G	T	1: 131,165,152 (GRCm38)	R399L	probably damaging	Het
Fat2	A	G	11: 55,311,468 (GRCm38)	V260A	probably benign	Het
Fhod3	T	A	18: 25,028,135 (GRCm38)	Y575N	probably benign	Het
Fscb	T	C	12: 64,474,470 (GRCm38)	E74G	possibly damaging	Het
Gdpd2	G	A	X: 100,734,193 (GRCm38)	M243I	possibly damaging	Het
Glra1	C	A	11: 55,536,384 (GRCm38)	D42Y	probably damaging	Het
Gnl2	T	C	4: 125,041,018 (GRCm38)	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,086 (GRCm38)	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,341,977 (GRCm38)	H2892L	possibly damaging	Het
Helb	T	C	10: 120,084,849 (GRCm38)	D1063G	probably benign	Het
Htr2c	A	G	X: 147,193,797 (GRCm38)	T163A	probably benign	Het
Impact	T	A	18: 12,985,289 (GRCm38)	H188Q	probably damaging	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lnx2	C	T	5: 147,029,137 (GRCm38)	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,638,349 (GRCm38)	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,562,285 (GRCm38)	Q458H	probably damaging	Het
Maml3	A	T	3: 51,689,875 (GRCm38)	D483E	probably damaging	Het
Mef2c	T	A	13: 83,662,629 (GRCm38)	*467R	probably null	Het
Mms19	T	A	19: 41,944,558 (GRCm38)	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,919,926 (GRCm38)	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,623,230 (GRCm38)	Y426H	probably damaging	Het
Oit3	A	T	10: 59,424,082 (GRCm38)	C500S	probably damaging	Het
Oog2	T	C	4: 144,196,451 (GRCm38)	S429P	probably benign	Het
Or4d1	T	A	11: 87,914,190 (GRCm38)	T239S	probably damaging	Het
Or51f1	A	G	7: 102,856,979 (GRCm38)	I101T	probably damaging	Het
Or5p1	A	T	7: 108,317,752 (GRCm38)	N286I	probably damaging	Het
Or5p51	T	C	7: 107,845,428 (GRCm38)	I102V	probably benign	Het
Pcnt	T	C	10: 76,437,206 (GRCm38)	D93G	probably benign	Het
Pdia5	A	T	16: 35,456,513 (GRCm38)	M95K	probably benign	Het
Piezo1	G	T	8: 122,498,206 (GRCm38)	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,431,269 (GRCm38)	Y141H	probably benign	Het
Prb1c	T	A	6: 132,361,928 (GRCm38)	N109I	unknown	Het
Rassf8	G	T	6: 145,815,540 (GRCm38)	K197N	probably benign	Het
Ryr2	T	C	13: 11,737,753 (GRCm38)	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,910,502 (GRCm38)	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,539,538 (GRCm38)	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,304,977 (GRCm38)	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,465,233 (GRCm38)	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,716,326 (GRCm38)	V313A	probably benign	Het
Slc2a9	C	A	5: 38,382,099 (GRCm38)	G353C	probably damaging	Het
Snx33	T	A	9: 56,925,901 (GRCm38)	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,718,358 (GRCm38)	V1107M	probably damaging	Het
Supt6	T	C	11: 78,224,683 (GRCm38)	D761G	probably benign	Het
Tfeb	T	C	17: 47,785,862 (GRCm38)	V18A	probably benign	Het
Thap12	T	A	7: 98,715,955 (GRCm38)	C443*	probably null	Het
Thap12	G	T	7: 98,715,954 (GRCm38)	C443F	probably damaging	Het
Tmem67	T	C	4: 12,063,158 (GRCm38)	D496G	probably benign	Het
Trappc8	G	A	18: 20,841,572 (GRCm38)	R900*	probably null	Het
Trim9	T	C	12: 70,248,273 (GRCm38)	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,442,637 (GRCm38)	I80L	probably benign	Het
Trpm5	C	A	7: 143,082,785 (GRCm38)	V472L	probably benign	Het
Tspear	C	T	10: 77,864,695 (GRCm38)	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,656,018 (GRCm38)	V238M	probably benign	Het
Usp20	A	G	2: 31,019,824 (GRCm38)	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,677,533 (GRCm38)	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120 (GRCm38)	M331I	probably benign	Het
Zc3h18	A	T	8: 122,383,643 (GRCm38)	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744 (GRCm38)		probably null	Het

Other mutations in Pdzrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Pdzrn4	APN	15	92,746,278 (GRCm38)	missense	probably damaging	1.00
IGL01991:Pdzrn4	APN	15	92,401,926 (GRCm38)	splice site	probably null
IGL02103:Pdzrn4	APN	15	92,769,887 (GRCm38)	missense	probably damaging	1.00
IGL02243:Pdzrn4	APN	15	92,770,696 (GRCm38)	missense	probably benign	0.30
IGL02269:Pdzrn4	APN	15	92,769,850 (GRCm38)	missense	probably damaging	1.00
IGL03005:Pdzrn4	APN	15	92,770,391 (GRCm38)	missense	probably damaging	1.00
PIT4362001:Pdzrn4	UTSW	15	92,769,881 (GRCm38)	missense	possibly damaging	0.46
R0243:Pdzrn4	UTSW	15	92,770,319 (GRCm38)	missense	possibly damaging	0.46
R0367:Pdzrn4	UTSW	15	92,757,657 (GRCm38)	missense	possibly damaging	0.53
R0972:Pdzrn4	UTSW	15	92,757,711 (GRCm38)	missense	probably benign	0.00
R1168:Pdzrn4	UTSW	15	92,770,271 (GRCm38)	missense	probably benign	0.16
R1411:Pdzrn4	UTSW	15	92,771,013 (GRCm38)	makesense	probably null
R1466:Pdzrn4	UTSW	15	92,770,537 (GRCm38)	missense	probably benign	0.00
R1466:Pdzrn4	UTSW	15	92,770,537 (GRCm38)	missense	probably benign	0.00
R1489:Pdzrn4	UTSW	15	92,677,712 (GRCm38)	missense	probably benign
R1503:Pdzrn4	UTSW	15	92,399,804 (GRCm38)	missense	probably damaging	0.99
R1561:Pdzrn4	UTSW	15	92,677,637 (GRCm38)	missense	possibly damaging	0.84
R1584:Pdzrn4	UTSW	15	92,770,537 (GRCm38)	missense	probably benign	0.00
R1733:Pdzrn4	UTSW	15	92,401,974 (GRCm38)	missense	probably benign	0.06
R1965:Pdzrn4	UTSW	15	92,746,309 (GRCm38)	splice site	probably null
R2061:Pdzrn4	UTSW	15	92,770,160 (GRCm38)	missense	probably damaging	0.99
R3010:Pdzrn4	UTSW	15	92,769,811 (GRCm38)	missense	probably benign	0.32
R4016:Pdzrn4	UTSW	15	92,399,749 (GRCm38)	missense	probably benign
R4032:Pdzrn4	UTSW	15	92,769,533 (GRCm38)	missense	probably damaging	1.00
R4110:Pdzrn4	UTSW	15	92,770,864 (GRCm38)	missense	probably benign	0.26
R4180:Pdzrn4	UTSW	15	92,402,017 (GRCm38)	missense	possibly damaging	0.93
R4539:Pdzrn4	UTSW	15	92,770,589 (GRCm38)	missense	probably damaging	1.00
R4617:Pdzrn4	UTSW	15	92,769,842 (GRCm38)	missense	probably damaging	1.00
R4900:Pdzrn4	UTSW	15	92,770,757 (GRCm38)	missense	probably damaging	1.00
R5422:Pdzrn4	UTSW	15	92,677,621 (GRCm38)	missense	probably benign	0.01
R5444:Pdzrn4	UTSW	15	92,770,925 (GRCm38)	missense	probably damaging	1.00
R5772:Pdzrn4	UTSW	15	92,757,681 (GRCm38)	missense	probably damaging	1.00
R5775:Pdzrn4	UTSW	15	92,757,681 (GRCm38)	missense	probably damaging	1.00
R5935:Pdzrn4	UTSW	15	92,397,374 (GRCm38)	missense	probably benign	0.01
R6192:Pdzrn4	UTSW	15	92,757,681 (GRCm38)	missense	probably damaging	1.00
R6210:Pdzrn4	UTSW	15	92,757,681 (GRCm38)	missense	probably damaging	1.00
R6258:Pdzrn4	UTSW	15	92,757,681 (GRCm38)	missense	probably damaging	1.00
R6259:Pdzrn4	UTSW	15	92,757,681 (GRCm38)	missense	probably damaging	1.00
R6391:Pdzrn4	UTSW	15	92,680,537 (GRCm38)	missense	probably damaging	0.99
R6613:Pdzrn4	UTSW	15	92,677,574 (GRCm38)	missense	probably damaging	0.99
R7046:Pdzrn4	UTSW	15	92,770,422 (GRCm38)	nonsense	probably null
R7096:Pdzrn4	UTSW	15	92,397,503 (GRCm38)	missense	probably benign	0.00
R7451:Pdzrn4	UTSW	15	92,770,067 (GRCm38)	missense	possibly damaging	0.68
R8075:Pdzrn4	UTSW	15	92,677,724 (GRCm38)	missense	probably damaging	0.99
R8125:Pdzrn4	UTSW	15	92,743,595 (GRCm38)	missense	probably damaging	1.00
R8324:Pdzrn4	UTSW	15	92,770,937 (GRCm38)	missense	probably damaging	1.00
R9332:Pdzrn4	UTSW	15	92,397,335 (GRCm38)	missense	probably benign
R9555:Pdzrn4	UTSW	15	92,399,822 (GRCm38)	missense	probably damaging	1.00
R9558:Pdzrn4	UTSW	15	92,401,996 (GRCm38)	missense	possibly damaging	0.46
R9622:Pdzrn4	UTSW	15	92,397,068 (GRCm38)	missense	probably benign
R9763:Pdzrn4	UTSW	15	92,770,495 (GRCm38)	missense	probably damaging	1.00
R9796:Pdzrn4	UTSW	15	92,680,472 (GRCm38)	missense	possibly damaging	0.93
X0018:Pdzrn4	UTSW	15	92,397,223 (GRCm38)	missense	probably benign	0.01
X0020:Pdzrn4	UTSW	15	92,397,223 (GRCm38)	missense	probably benign	0.01
X0021:Pdzrn4	UTSW	15	92,677,709 (GRCm38)	missense	probably damaging	1.00
X0026:Pdzrn4	UTSW	15	92,397,223 (GRCm38)	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92,680,512 (GRCm38)	missense	possibly damaging	0.92
X0027:Pdzrn4	UTSW	15	92,397,223 (GRCm38)	missense	probably benign	0.01
X0065:Pdzrn4	UTSW	15	92,397,223 (GRCm38)	missense	probably benign	0.01
Z1176:Pdzrn4	UTSW	15	92,396,957 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACAACACCAGCCTGGATGTG -3'
(R):5'- CGGAATGTTGGCATATCTGTAG -3'

Sequencing Primer
(F):5'- AGCCTGGATGTGCAACG -3'
(R):5'- AATGTTGGCATATCTGTAGGAGGAGC -3'

Posted On

2015-11-11