Mutagenetix > Incidental Mutation

Incidental Mutation 'R1561:Pdzrn4'

170634

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

MMRRC Submission

039600-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R1561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92677637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 308 (V308A)

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: V69A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: V69A

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: V308A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: V308A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229173

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,877,431	N69D	probably benign	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Ap1g2	T	C	14: 55,104,887	E171G	probably damaging	Het
Atg7	T	C	6: 114,701,172	V341A	possibly damaging	Het
Bace1	G	T	9: 45,839,194	R56L	probably benign	Het
Chfr	A	T	5: 110,158,808	D472V	probably benign	Het
Ckap2l	G	A	2: 129,270,725	T621I	probably benign	Het
Cmip	A	G	8: 117,453,850	T554A	probably benign	Het
Crocc	C	T	4: 141,030,268	E905K	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
F5	C	A	1: 164,186,903	S581*	probably null	Het
Fam227a	T	A	15: 79,636,762	Y291F	possibly damaging	Het
Gm609	A	G	16: 45,442,512	V88A	possibly damaging	Het
Gpr151	A	T	18: 42,579,156	S152R	probably benign	Het
Gpr158	A	T	2: 21,815,694		probably null	Het
Kcna5	T	C	6: 126,534,583	Y194C	probably damaging	Het
Khsrp	A	G	17: 57,025,639	S214P	probably benign	Het
Mrgprb1	C	G	7: 48,447,125		probably null	Het
Mrnip	C	T	11: 50,176,849	T30I	probably damaging	Het
Mtus2	A	C	5: 148,076,552	K52Q	probably benign	Het
Naca	G	T	10: 128,040,398		probably benign	Het
Obscn	T	G	11: 59,036,073	T5539P	probably damaging	Het
Olfr1154	C	T	2: 87,903,161	V172I	probably benign	Het
Olfr1341	T	A	4: 118,709,554	I49N	probably damaging	Het
Ovca2	A	G	11: 75,177,979	L198P	probably damaging	Het
Pkd1l3	A	G	8: 109,614,813	I99M	unknown	Het
Polr3b	T	A	10: 84,634,912	M139K	probably damaging	Het
Prkag2	T	C	5: 24,871,595	Y191C	probably damaging	Het
Prss47	A	T	13: 65,046,248	C278S	probably damaging	Het
Ptprm	T	C	17: 66,940,541	T600A	probably damaging	Het
Ruvbl1	T	C	6: 88,479,154	V70A	probably damaging	Het
Sf3a1	T	C	11: 4,179,217	V726A	probably benign	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Slc26a3	A	G	12: 31,466,452	N603S	probably benign	Het
Slc2a1	A	G	4: 119,136,409	E481G	possibly damaging	Het
Slc35a5	A	C	16: 45,151,521	S127A	possibly damaging	Het
Spen	C	A	4: 141,472,383	G2978*	probably null	Het
Srrt	T	A	5: 137,300,019	E297V	probably benign	Het
Srsf4	T	A	4: 131,897,695	D134E	probably damaging	Het
Tdrd6	G	A	17: 43,625,624	S1511L	probably damaging	Het
Tmem65	T	A	15: 58,822,858	I91F	probably benign	Het
Top2b	A	G	14: 16,398,993	K538E	possibly damaging	Het
Trappc8	G	A	18: 20,841,623	R883*	probably null	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Vav3	T	C	3: 109,494,838		probably null	Het
Vmn1r42	C	T	6: 89,845,381	G69S	probably damaging	Het
Zan	A	T	5: 137,380,838	Y5333*	probably null	Het
Zfp994	A	C	17: 22,201,225	F248V	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
R0367:Pdzrn4	UTSW	15	92757657	missense	possibly damaging	0.53
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
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'- ACCTGCCTGAAGATTAGGGGCAAC -3'
(R):5'- AACTGCCAACTTCTGGGGTGTCTG -3'

Sequencing Primer
(F):5'- GGGGCAACATTTTCTAATGCAG -3'
(R):5'- GCCTACTTTCAAAAGTGAACGG -3'

Posted On

2014-04-13