Mutagenetix > Incidental Mutation

Incidental Mutation 'R4032:Pdzrn4'

313556

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: 0.207) question?

Stock #

R4032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92294762-92669700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92667414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 522 (T522M)

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: T283M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: T283M

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: T522M

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

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: T522M

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap17	G	T	7: 122,879,289 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,237,389 (GRCm39)	M846L	probably damaging	Het
Capn5	G	T	7: 97,778,453 (GRCm39)	Q389K	probably damaging	Het
Cdkl3	T	A	11: 51,902,118 (GRCm39)	I109N	probably damaging	Het
Cry2	T	C	2: 92,244,172 (GRCm39)	I334V	probably benign	Het
Cs	T	C	10: 128,196,913 (GRCm39)	L436P	probably damaging	Het
D17H6S53E	T	C	17: 35,346,355 (GRCm39)	S89P	probably benign	Het
Dync1h1	C	T	12: 110,584,483 (GRCm39)	Q629*	probably null	Het
H4c12	T	C	13: 21,934,588 (GRCm39)	I30V	possibly damaging	Het
Itpka	C	T	2: 119,573,082 (GRCm39)	P75S	probably benign	Het
Lyst	C	T	13: 13,791,250 (GRCm39)	H38Y	probably damaging	Het
Mansc4	T	C	6: 146,976,678 (GRCm39)	K313E	probably benign	Het
Megf6	T	A	4: 154,261,550 (GRCm39)	C58*	probably null	Het
Mtor	T	C	4: 148,621,209 (GRCm39)	V1869A	probably benign	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Nek10	C	A	14: 14,853,877 (GRCm38)		probably null	Het
Nfkb1	T	C	3: 135,300,110 (GRCm39)	S657G	possibly damaging	Het
Or10d5j	T	C	9: 39,867,629 (GRCm39)	T213A	probably benign	Het
Or2a25	A	T	6: 42,888,559 (GRCm39)	Y34F	probably benign	Het
Or4m1	T	A	14: 50,557,767 (GRCm39)	D175V	possibly damaging	Het
Or4n5	G	T	14: 50,132,433 (GRCm39)	H275Q	probably benign	Het
Or51f23	A	G	7: 102,453,396 (GRCm39)	K237R	probably benign	Het
Pabir1	C	T	19: 24,454,106 (GRCm39)	M205I	probably benign	Het
Pde1b	A	G	15: 103,429,753 (GRCm39)	D82G	probably damaging	Het
Ptpro	C	A	6: 137,438,740 (GRCm39)	N373K	probably damaging	Het
Ptprs	T	C	17: 56,720,386 (GRCm39)	Y1478C	probably damaging	Het
Sdc2	A	T	15: 33,017,323 (GRCm39)	I46F	probably damaging	Het
Sergef	C	A	7: 46,092,726 (GRCm39)	E428*	probably null	Het
Stk36	A	G	1: 74,665,207 (GRCm39)	S651G	probably benign	Het
Ubr5	A	G	15: 38,025,081 (GRCm39)	V559A		Het
Ugt8a	C	A	3: 125,667,807 (GRCm39)	D345Y	probably damaging	Het
Usp44	A	G	10: 93,683,127 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,594,263 (GRCm39)	L3156Q	probably damaging	Het
Zfp655	A	G	5: 145,180,858 (GRCm39)	T239A	possibly damaging	Het
Zfp87	T	C	13: 74,520,449 (GRCm39)	T210A	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGTTATGCTACACACAAGGCTG -3'
(R):5'- TGATGCTCAAGGCTCCCTAG -3'

Sequencing Primer
(F):5'- CAAGGCTGTTGTGAACTAATTGTC -3'
(R):5'- GCTCCCTAGCGTGTCTTGG -3'

Posted On

2015-04-30