Mutagenetix > Incidental Mutation

Incidental Mutation 'R4539:Pdzrn4'

333468

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, SAMCAP3L, LNX4

Accession Numbers

Essential gene?

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

Stock #

R4539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92294762-92669700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92668470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 874 (D874G)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035399
AA Change: D635G

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

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: D635G

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 damaging
Transcript: ENSMUST00000169942
AA Change: D874G

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

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D874G

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,793 (GRCm39)	T702A	probably benign	Het
Alms1	C	T	6: 85,597,460 (GRCm39)	T762I	possibly damaging	Het
Arhgef18	T	C	8: 3,497,070 (GRCm39)	M465T	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Camta1	T	C	4: 151,169,269 (GRCm39)	I161V	probably benign	Het
Cpeb4	G	A	11: 31,823,206 (GRCm39)	G307S	probably damaging	Het
Eps8l1	T	C	7: 4,481,623 (GRCm39)	V707A	probably damaging	Het
Espn	G	A	4: 152,218,665 (GRCm39)	Q473*	probably null	Het
Fut9	A	T	4: 25,619,793 (GRCm39)	H340Q	probably damaging	Het
Gm11554	A	T	11: 99,695,186 (GRCm39)		probably benign	Het
Hcar2	A	G	5: 124,002,793 (GRCm39)	F237L	probably damaging	Het
Hectd4	T	A	5: 121,452,970 (GRCm39)	C492*	probably null	Het
Lrrk2	C	T	15: 91,613,345 (GRCm39)	P823L	possibly damaging	Het
Luzp2	A	T	7: 54,713,037 (GRCm39)	Q91L	probably damaging	Het
Mapkapk5	T	A	5: 121,675,218 (GRCm39)	H117L	possibly damaging	Het
Myh14	A	G	7: 44,276,478 (GRCm39)	L1209P	probably damaging	Het
Myo3b	T	G	2: 69,869,491 (GRCm39)	M1R	probably null	Het
Nacad	A	T	11: 6,550,677 (GRCm39)	V838E	possibly damaging	Het
Neurl1a	T	A	19: 47,245,183 (GRCm39)	S458T	probably damaging	Het
Phykpl	A	G	11: 51,484,915 (GRCm39)	T292A	probably damaging	Het
Piezo2	A	G	18: 63,219,699 (GRCm39)	Y1003H	probably damaging	Het
Ppih	A	G	4: 119,177,656 (GRCm39)	S6P	probably benign	Het
Qrich1	A	G	9: 108,411,399 (GRCm39)	E308G	probably damaging	Het
Setx	A	G	2: 29,069,760 (GRCm39)	T2522A	probably benign	Het
Slc26a8	A	T	17: 28,878,591 (GRCm39)	M332K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sphkap	A	G	1: 83,255,514 (GRCm39)	V745A	probably benign	Het
Swi5	T	C	2: 32,169,092 (GRCm39)	N118S	possibly damaging	Het
Tenm2	T	C	11: 35,937,607 (GRCm39)	T1689A	probably damaging	Het
Ttll9	C	T	2: 152,836,011 (GRCm39)	R252C	probably damaging	Het
Vars2	T	A	17: 35,977,780 (GRCm39)	E80V	probably damaging	Het
Zbtb39	G	A	10: 127,578,061 (GRCm39)	D212N	possibly damaging	Het
Zfp418	C	A	7: 7,184,276 (GRCm39)	Q80K	probably benign	Het
Zscan25	A	G	5: 145,225,201 (GRCm39)	D259G	probably benign	Het

Other mutations in Pdzrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Pdzrn4	APN	15	92,644,159 (GRCm39)	missense	probably damaging	1.00
IGL01991:Pdzrn4	APN	15	92,299,807 (GRCm39)	splice site	probably null
IGL02103:Pdzrn4	APN	15	92,667,768 (GRCm39)	missense	probably damaging	1.00
IGL02243:Pdzrn4	APN	15	92,668,577 (GRCm39)	missense	probably benign	0.30
IGL02269:Pdzrn4	APN	15	92,667,731 (GRCm39)	missense	probably damaging	1.00
IGL03005:Pdzrn4	APN	15	92,668,272 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Pdzrn4	UTSW	15	92,667,762 (GRCm39)	missense	possibly damaging	0.46
R0243:Pdzrn4	UTSW	15	92,668,200 (GRCm39)	missense	possibly damaging	0.46
R0367:Pdzrn4	UTSW	15	92,655,538 (GRCm39)	missense	possibly damaging	0.53
R0972:Pdzrn4	UTSW	15	92,655,592 (GRCm39)	missense	probably benign	0.00
R1168:Pdzrn4	UTSW	15	92,668,152 (GRCm39)	missense	probably benign	0.16
R1411:Pdzrn4	UTSW	15	92,668,894 (GRCm39)	makesense	probably null
R1466:Pdzrn4	UTSW	15	92,668,418 (GRCm39)	missense	probably benign	0.00
R1466:Pdzrn4	UTSW	15	92,668,418 (GRCm39)	missense	probably benign	0.00
R1489:Pdzrn4	UTSW	15	92,575,593 (GRCm39)	missense	probably benign
R1503:Pdzrn4	UTSW	15	92,297,685 (GRCm39)	missense	probably damaging	0.99
R1561:Pdzrn4	UTSW	15	92,575,518 (GRCm39)	missense	possibly damaging	0.84
R1584:Pdzrn4	UTSW	15	92,668,418 (GRCm39)	missense	probably benign	0.00
R1733:Pdzrn4	UTSW	15	92,299,855 (GRCm39)	missense	probably benign	0.06
R1965:Pdzrn4	UTSW	15	92,644,190 (GRCm39)	splice site	probably null
R2061:Pdzrn4	UTSW	15	92,668,041 (GRCm39)	missense	probably damaging	0.99
R3010:Pdzrn4	UTSW	15	92,667,692 (GRCm39)	missense	probably benign	0.32
R4016:Pdzrn4	UTSW	15	92,297,630 (GRCm39)	missense	probably benign
R4032:Pdzrn4	UTSW	15	92,667,414 (GRCm39)	missense	probably damaging	1.00
R4110:Pdzrn4	UTSW	15	92,668,745 (GRCm39)	missense	probably benign	0.26
R4180:Pdzrn4	UTSW	15	92,299,898 (GRCm39)	missense	possibly damaging	0.93
R4617:Pdzrn4	UTSW	15	92,667,723 (GRCm39)	missense	probably damaging	1.00
R4734:Pdzrn4	UTSW	15	92,668,133 (GRCm39)	nonsense	probably null
R4900:Pdzrn4	UTSW	15	92,668,638 (GRCm39)	missense	probably damaging	1.00
R5422:Pdzrn4	UTSW	15	92,575,502 (GRCm39)	missense	probably benign	0.01
R5444:Pdzrn4	UTSW	15	92,668,806 (GRCm39)	missense	probably damaging	1.00
R5772:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R5775:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R5935:Pdzrn4	UTSW	15	92,295,255 (GRCm39)	missense	probably benign	0.01
R6192:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6210:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6258:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6259:Pdzrn4	UTSW	15	92,655,562 (GRCm39)	missense	probably damaging	1.00
R6391:Pdzrn4	UTSW	15	92,578,418 (GRCm39)	missense	probably damaging	0.99
R6613:Pdzrn4	UTSW	15	92,575,455 (GRCm39)	missense	probably damaging	0.99
R7046:Pdzrn4	UTSW	15	92,668,303 (GRCm39)	nonsense	probably null
R7096:Pdzrn4	UTSW	15	92,295,384 (GRCm39)	missense	probably benign	0.00
R7451:Pdzrn4	UTSW	15	92,667,948 (GRCm39)	missense	possibly damaging	0.68
R8075:Pdzrn4	UTSW	15	92,575,605 (GRCm39)	missense	probably damaging	0.99
R8125:Pdzrn4	UTSW	15	92,641,476 (GRCm39)	missense	probably damaging	1.00
R8324:Pdzrn4	UTSW	15	92,668,818 (GRCm39)	missense	probably damaging	1.00
R9332:Pdzrn4	UTSW	15	92,295,216 (GRCm39)	missense	probably benign
R9555:Pdzrn4	UTSW	15	92,297,703 (GRCm39)	missense	probably damaging	1.00
R9558:Pdzrn4	UTSW	15	92,299,877 (GRCm39)	missense	possibly damaging	0.46
R9622:Pdzrn4	UTSW	15	92,294,949 (GRCm39)	missense	probably benign
R9763:Pdzrn4	UTSW	15	92,668,376 (GRCm39)	missense	probably damaging	1.00
R9796:Pdzrn4	UTSW	15	92,578,353 (GRCm39)	missense	possibly damaging	0.93
X0018:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0020:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0021:Pdzrn4	UTSW	15	92,575,590 (GRCm39)	missense	probably damaging	1.00
X0026:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92,578,393 (GRCm39)	missense	possibly damaging	0.92
X0027:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
X0065:Pdzrn4	UTSW	15	92,295,104 (GRCm39)	missense	probably benign	0.01
Z1176:Pdzrn4	UTSW	15	92,294,838 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCACAGCTCCTCCTACAGATATGC -3'
(R):5'- GACTCCGCATCATGAACTCC -3'

Sequencing Primer
(F):5'- TACAGATATGCCAACATTCCGG -3'
(R):5'- ATCATGAACTCCCGGCGC -3'

Posted On

2015-08-18