Mutagenetix > Incidental Mutation

Incidental Mutation 'R0367:Pdzrn4'

30294

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

MMRRC Submission

038573-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R0367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92757657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 477 (E477G)

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: E238G

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: E238G

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

possibly damaging
Transcript: ENSMUST00000169942
AA Change: E477G

PolyPhen 2 Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: E477G

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

0.1656

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,902,114	S12P	probably damaging	Het
Alx4	T	A	2: 93,668,608	D228E	probably damaging	Het
Antxr2	T	C	5: 98,029,596	E71G	probably benign	Het
Arhgap19	C	A	19: 41,801,978	G17V	probably benign	Het
BC027072	G	T	17: 71,750,476	F735L	probably damaging	Het
C130026I21Rik	G	T	1: 85,270,103		probably benign	Het
C8a	A	C	4: 104,862,594		probably null	Het
Ccne2	T	A	4: 11,201,426		probably benign	Het
Cdc42bpg	G	A	19: 6,311,395	C317Y	probably damaging	Het
Cend1	C	A	7: 141,427,895	R4L	probably damaging	Het
Cfap44	T	C	16: 44,433,476		probably null	Het
Cpt1c	T	C	7: 44,959,575	N774S	probably benign	Het
Csmd1	C	T	8: 15,917,270	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,268,886	S323F	probably damaging	Het
Ddx60	T	G	8: 62,017,749	I1425R	possibly damaging	Het
Dusp27	T	A	1: 166,100,763	T427S	probably benign	Het
Edem1	T	A	6: 108,846,752	Y370N	probably damaging	Het
Elp5	A	G	11: 69,975,141	V103A	probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fat1	A	G	8: 45,024,313	D2132G	probably damaging	Het
Fat2	A	T	11: 55,292,093		probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gp2	C	T	7: 119,454,568	D57N	probably damaging	Het
Gpr161	T	C	1: 165,317,236		probably benign	Het
Gstcd	G	A	3: 132,986,377		probably benign	Het
Hipk3	A	T	2: 104,431,249	C980*	probably null	Het
Htr2a	A	T	14: 74,642,209	I93L	probably damaging	Het
Itpr2	T	G	6: 146,234,008	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,907,628	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,351,225	Y38F	probably damaging	Het
Limch1	G	A	5: 66,857,954		probably null	Het
Lmtk2	C	T	5: 144,174,285	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,425,757		probably benign	Het
Lpin2	A	T	17: 71,215,022	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,629,993	F342I	probably benign	Het
Lyzl6	A	G	11: 103,636,752		probably null	Het
Map3k4	A	C	17: 12,258,041		probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Olfr1263	A	C	2: 90,015,772	I281L	probably damaging	Het
Olfr51	A	G	11: 51,007,077	Y35C	probably damaging	Het
Olfr859	G	T	9: 19,808,543	S75I	probably damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Rims2	G	T	15: 39,462,615		probably null	Het
Samd4b	C	T	7: 28,423,448	A62T	probably damaging	Het
Scamp1	T	C	13: 94,210,580	N192S	probably benign	Het
Scnn1g	T	C	7: 121,746,579		probably benign	Het
Setd1a	T	G	7: 127,788,186		probably benign	Het
Setdb1	A	G	3: 95,349,881		probably benign	Het
Slc2a7	T	C	4: 150,166,366	S415P	probably benign	Het
Strip2	A	T	6: 29,937,651	Y526F	possibly damaging	Het
Syne2	A	G	12: 75,880,177	D69G	probably damaging	Het
Syt13	C	A	2: 92,915,251	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,155,368	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,976,430	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,912,221	H198L	probably damaging	Het

Other mutations in Pdzrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01932:Pdzrn4	APN	15	92746278	missense	probably damaging	1.00
IGL01991:Pdzrn4	APN	15	92401926	splice site	probably null
IGL02103:Pdzrn4	APN	15	92769887	missense	probably damaging	1.00
IGL02243:Pdzrn4	APN	15	92770696	missense	probably benign	0.30
IGL02269:Pdzrn4	APN	15	92769850	missense	probably damaging	1.00
IGL03005:Pdzrn4	APN	15	92770391	missense	probably damaging	1.00
PIT4362001:Pdzrn4	UTSW	15	92769881	missense	possibly damaging	0.46
R0243:Pdzrn4	UTSW	15	92770319	missense	possibly damaging	0.46
R0972:Pdzrn4	UTSW	15	92757711	missense	probably benign	0.00
R1168:Pdzrn4	UTSW	15	92770271	missense	probably benign	0.16
R1411:Pdzrn4	UTSW	15	92771013	makesense	probably null
R1466:Pdzrn4	UTSW	15	92770537	missense	probably benign	0.00
R1466:Pdzrn4	UTSW	15	92770537	missense	probably benign	0.00
R1489:Pdzrn4	UTSW	15	92677712	missense	probably benign
R1503:Pdzrn4	UTSW	15	92399804	missense	probably damaging	0.99
R1561:Pdzrn4	UTSW	15	92677637	missense	possibly damaging	0.84
R1584:Pdzrn4	UTSW	15	92770537	missense	probably benign	0.00
R1733:Pdzrn4	UTSW	15	92401974	missense	probably benign	0.06
R1965:Pdzrn4	UTSW	15	92746309	splice site	probably null
R2061:Pdzrn4	UTSW	15	92770160	missense	probably damaging	0.99
R3010:Pdzrn4	UTSW	15	92769811	missense	probably benign	0.32
R4016:Pdzrn4	UTSW	15	92399749	missense	probably benign
R4032:Pdzrn4	UTSW	15	92769533	missense	probably damaging	1.00
R4110:Pdzrn4	UTSW	15	92770864	missense	probably benign	0.26
R4180:Pdzrn4	UTSW	15	92402017	missense	possibly damaging	0.93
R4539:Pdzrn4	UTSW	15	92770589	missense	probably damaging	1.00
R4617:Pdzrn4	UTSW	15	92769842	missense	probably damaging	1.00
R4734:Pdzrn4	UTSW	15	92770252	nonsense	probably null
R4900:Pdzrn4	UTSW	15	92770757	missense	probably damaging	1.00
R5422:Pdzrn4	UTSW	15	92677621	missense	probably benign	0.01
R5444:Pdzrn4	UTSW	15	92770925	missense	probably damaging	1.00
R5772:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R5775:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R5935:Pdzrn4	UTSW	15	92397374	missense	probably benign	0.01
R6192:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6210:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6258:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6259:Pdzrn4	UTSW	15	92757681	missense	probably damaging	1.00
R6391:Pdzrn4	UTSW	15	92680537	missense	probably damaging	0.99
R6613:Pdzrn4	UTSW	15	92677574	missense	probably damaging	0.99
R7046:Pdzrn4	UTSW	15	92770422	nonsense	probably null
R7096:Pdzrn4	UTSW	15	92397503	missense	probably benign	0.00
R7451:Pdzrn4	UTSW	15	92770067	missense	possibly damaging	0.68
R8075:Pdzrn4	UTSW	15	92677724	missense	probably damaging	0.99
R8125:Pdzrn4	UTSW	15	92743595	missense	probably damaging	1.00
R8324:Pdzrn4	UTSW	15	92770937	missense	probably damaging	1.00
R9332:Pdzrn4	UTSW	15	92397335	missense	probably benign
R9555:Pdzrn4	UTSW	15	92399822	missense	probably damaging	1.00
R9558:Pdzrn4	UTSW	15	92401996	missense	possibly damaging	0.46
R9622:Pdzrn4	UTSW	15	92397068	missense	probably benign
R9763:Pdzrn4	UTSW	15	92770495	missense	probably damaging	1.00
R9796:Pdzrn4	UTSW	15	92680472	missense	possibly damaging	0.93
X0018:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0020:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0021:Pdzrn4	UTSW	15	92677709	missense	probably damaging	1.00
X0026:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
X0027:Pdzrn4	UTSW	15	92680512	missense	possibly damaging	0.92
X0065:Pdzrn4	UTSW	15	92397223	missense	probably benign	0.01
Z1176:Pdzrn4	UTSW	15	92396957	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AAAGGCCCAATTGTCTCATAGCCC -3'
(R):5'- TGAGAAGATCGTTTGCCCCGAAAG -3'

Sequencing Primer
(F):5'- AATTGTCTCATAGCCCTATCGGAAC -3'
(R):5'- CGTTTGCCCCGAAAGATTATG -3'

Posted On

2013-04-24