Mutagenetix > Incidental Mutation

Incidental Mutation 'R4016:Pdzrn4'

311961

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, SAMCAP3L, LNX4

MMRRC Submission

040847-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R4016 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92294762-92669700 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92297630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 198 (D198E)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000169942
AA Change: D198E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D198E

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

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh8a1	G	A	10: 21,271,470 (GRCm39)	V399I	probably benign	Het
Apold1	A	G	6: 134,960,869 (GRCm39)	I108V	probably benign	Het
Arpc5	G	A	1: 152,644,607 (GRCm39)		probably benign	Het
Capn11	T	A	17: 45,964,682 (GRCm39)	D45V	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Dlat	C	T	9: 50,560,931 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,584,286 (GRCm39)	D140V	probably damaging	Het
Dtx3	A	G	10: 127,027,040 (GRCm39)	V378A	probably benign	Het
Ezh2	A	G	6: 47,521,516 (GRCm39)	I414T	probably benign	Het
Gm1979	C	T	5: 26,209,604 (GRCm39)	W41*	probably null	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Kdm5a	T	A	6: 120,371,067 (GRCm39)	Y504N	probably damaging	Het
Map3k21	T	A	8: 126,637,924 (GRCm39)	I170N	probably damaging	Het
Mrgpra6	C	A	7: 46,838,463 (GRCm39)	C245F	possibly damaging	Het
Nipal2	T	G	15: 34,600,207 (GRCm39)	K203N	possibly damaging	Het
Nlrp1b	A	G	11: 71,063,911 (GRCm39)	F621S	probably damaging	Het
Nos3	G	A	5: 24,576,714 (GRCm39)	V448M	probably damaging	Het
Ntrk3	G	T	7: 78,112,695 (GRCm39)		probably benign	Het
Or5b118	A	T	19: 13,448,561 (GRCm39)	T76S	possibly damaging	Het
P2rx1	T	C	11: 72,900,799 (GRCm39)	C190R	probably damaging	Het
Ptar1	A	G	19: 23,664,824 (GRCm39)	M1V	probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Purg	T	A	8: 33,877,019 (GRCm39)	L219*	probably null	Het
Rbp3	G	T	14: 33,677,347 (GRCm39)	V432L	possibly damaging	Het
Scnn1b	G	T	7: 121,513,555 (GRCm39)		probably null	Het
Sgms1	A	G	19: 32,120,192 (GRCm39)	V238A	possibly damaging	Het
Slc16a14	G	T	1: 84,890,228 (GRCm39)	S359*	probably null	Het
Smarca2	G	A	19: 26,661,327 (GRCm39)		probably null	Het
Spatc1l	A	G	10: 76,398,323 (GRCm39)	S42G	probably benign	Het
Stra6	T	A	9: 58,042,473 (GRCm39)	V34E	probably damaging	Het
Tex14	A	G	11: 87,429,449 (GRCm39)		probably null	Het
Tox4	T	C	14: 52,523,361 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Uggt2	T	C	14: 119,263,845 (GRCm39)	N1062D	possibly damaging	Het
Umod	A	C	7: 119,075,913 (GRCm39)	N284K	possibly damaging	Het
Unc93b1	T	C	19: 3,993,572 (GRCm39)	I338T	probably damaging	Het
Vmn2r99	C	T	17: 19,598,832 (GRCm39)	T172I	possibly damaging	Het
Whrn	G	A	4: 63,333,876 (GRCm39)	Q415*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TACTCCCTGTGTGAAGTGCAAATC -3'
(R):5'- TGGGCCCAAACATCCTTTTAAG -3'

Sequencing Primer
(F):5'- CCTGTGTGAAGTGCAAATCCATGTAG -3'
(R):5'- AGGATCATACCCCTTGTTTGTCTGAG -3'

Posted On

2015-04-29