Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03005:Pdzrn4'

407507

Institutional Source

Australian Phenomics Network (link to record)

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: 0.207) question?

Stock #

IGL03005

Quality Score

Status

Chromosome

Chromosomal Location

92294762-92669700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92668272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 808 (L808P)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000035399
AA Change: L569P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: L569P

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: L808P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: L808P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	A	T	1: 176,894,793 (GRCm39)	V268E	probably damaging	Het
Aoc1l1	T	A	6: 48,953,480 (GRCm39)	Y468*	probably null	Het
Apob	A	G	12: 8,043,059 (GRCm39)		probably benign	Het
Arhgap19	T	C	19: 41,772,856 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,660,632 (GRCm39)	L672P	probably damaging	Het
Cars1	A	G	7: 143,112,906 (GRCm39)	F774L	probably damaging	Het
Cd200r3	T	A	16: 44,773,973 (GRCm39)	S128R	probably damaging	Het
Chd9	A	G	8: 91,738,075 (GRCm39)	N1569S	probably damaging	Het
Chmp7	G	A	14: 69,957,277 (GRCm39)	R294C	probably damaging	Het
Col10a1	A	T	10: 34,271,734 (GRCm39)	I569F	probably damaging	Het
Cspg4	T	A	9: 56,795,772 (GRCm39)	V1169D	probably damaging	Het
Emg1	G	A	6: 124,681,557 (GRCm39)	T229I	probably damaging	Het
Fmo9	C	T	1: 166,502,088 (GRCm39)	S179N	probably benign	Het
Frem1	T	C	4: 82,912,371 (GRCm39)	Y667C	probably damaging	Het
Gpsm2	A	G	3: 108,594,322 (GRCm39)		probably benign	Het
Gsdma	A	T	11: 98,567,085 (GRCm39)	E395V	probably damaging	Het
Gsdmd	C	T	15: 75,739,015 (GRCm39)	T464M	possibly damaging	Het
Iqschfp	C	A	3: 68,526,010 (GRCm39)	Q395K	possibly damaging	Het
Lipo3	T	C	19: 33,763,136 (GRCm39)	I36V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,139 (GRCm39)	S199G	probably damaging	Het
Lypla1	C	T	1: 4,902,613 (GRCm39)		probably benign	Het
Mst1r	C	T	9: 107,791,748 (GRCm39)	Q809*	probably null	Het
Mtr	T	A	13: 12,250,335 (GRCm39)		probably benign	Het
Or4a39	G	A	2: 89,237,315 (GRCm39)	T36I	possibly damaging	Het
Pax7	T	A	4: 139,556,007 (GRCm39)	I156F	probably damaging	Het
Pcdhb8	T	A	18: 37,490,587 (GRCm39)	L755Q	probably damaging	Het
Pdzd2	G	A	15: 12,385,351 (GRCm39)	P1140S	probably damaging	Het
Pex1	G	T	5: 3,680,292 (GRCm39)	Q971H	probably null	Het
Pgap6	C	T	17: 26,337,911 (GRCm39)	L432F	probably benign	Het
Pld1	T	A	3: 28,141,402 (GRCm39)	V655E	possibly damaging	Het
Pnpla3	C	T	15: 84,058,469 (GRCm39)	R163W	probably damaging	Het
Rabgef1	T	C	5: 130,237,638 (GRCm39)	L237P	probably damaging	Het
Setbp1	A	T	18: 78,902,340 (GRCm39)	N442K	possibly damaging	Het
Sorl1	T	G	9: 41,968,621 (GRCm39)	D544A	probably damaging	Het
Spire2	C	A	8: 124,090,107 (GRCm39)	P490T	probably benign	Het
Zeb1	T	A	18: 5,767,150 (GRCm39)	S554T	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
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
R4539:Pdzrn4	UTSW	15	92,668,470 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02