Mutagenetix > Incidental Mutation

Incidental Mutation 'R5444:Pdzrn4'

427363

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

MMRRC Submission

043009-MU

Accession Numbers

Essential gene?

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

Stock #

R5444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92770925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 747 (M747K)

Ref Sequence

ENSEMBL: ENSMUSP00000040456 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035399
AA Change: M747K

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

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: M747K

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: M986K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: M986K

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

0.3907

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	C	T	1: 105,726,384	T826I	possibly damaging	Het
4930584F24Rik	A	G	5: 26,479,737		noncoding transcript	Het
5430403G16Rik	A	T	5: 109,675,636	Y649*	probably null	Het
Adam11	A	G	11: 102,772,848	Q284R	probably damaging	Het
Adamts17	T	A	7: 67,041,899	H610Q	probably benign	Het
Alg6	A	G	4: 99,741,579	Y131C	probably benign	Het
Apol9b	T	C	15: 77,735,763	I253T	probably damaging	Het
Asb4	T	A	6: 5,431,040	I425N	probably damaging	Het
Atic	T	C	1: 71,576,717	L474P	probably damaging	Het
B3glct	C	T	5: 149,746,520	T318I	probably damaging	Het
Bbs7	T	C	3: 36,612,050	K22E	possibly damaging	Het
BC037034	A	T	5: 138,260,998		probably null	Het
Cdk17	T	G	10: 93,217,961		probably null	Het
Cemip	T	A	7: 83,982,291	T438S	probably damaging	Het
Chd2	T	C	7: 73,473,085	E967G	probably damaging	Het
Cyp2d26	G	T	15: 82,792,538	D202E	probably benign	Het
Dhdds	G	A	4: 133,971,136	R295*	probably null	Het
Eef2kmt	G	A	16: 5,249,095		probably benign	Het
Fn3krp	G	A	11: 121,421,604		probably null	Het
Gjc3	G	A	5: 137,957,547	L159F	probably damaging	Het
Gm28434	T	C	5: 87,979,288		probably benign	Het
Gp2	G	A	7: 119,454,598	P47S	possibly damaging	Het
Irf7	C	T	7: 141,264,819		probably benign	Het
Itgb8	T	C	12: 119,237,838		probably benign	Het
Kcnb2	A	T	1: 15,711,492	I863F	probably benign	Het
Lamb1	T	C	12: 31,298,909	F647L	possibly damaging	Het
Mccc1	T	A	3: 35,976,742	M392L	probably benign	Het
Mtmr10	T	C	7: 64,288,401		probably null	Het
Ncstn	A	C	1: 172,072,839	V223G	possibly damaging	Het
Neurl3	G	T	1: 36,269,490	F80L	probably damaging	Het
Nf1	T	C	11: 79,443,959	M869T	possibly damaging	Het
Nfatc2	A	G	2: 168,534,890		probably benign	Het
Nnat	T	C	2: 157,561,217	F26S	possibly damaging	Het
Nos1ap	T	C	1: 170,375,251	Y109C	probably damaging	Het
Nup205	T	A	6: 35,189,189	D194E	probably damaging	Het
Olfr1012	A	T	2: 85,759,919	F152L	probably benign	Het
Olfr1333	T	A	4: 118,830,111	I109L	probably benign	Het
Olfr1463	A	T	19: 13,234,958	Q236L	probably benign	Het
Olfr399	T	C	11: 74,053,977	S261G	probably benign	Het
Olfr552	C	T	7: 102,604,869	R172*	probably null	Het
Ostf1	A	G	19: 18,581,313	L202S	probably benign	Het
Plxnb1	A	G	9: 109,106,453	D1019G	probably benign	Het
Pnlip	A	G	19: 58,673,163	I95V	probably benign	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ppp1r13b	T	A	12: 111,838,688	T197S	probably benign	Het
Rasgrp3	A	T	17: 75,503,375	I357F	probably damaging	Het
Rbmxl2	G	C	7: 107,209,837	G110R	probably damaging	Het
Rgs22	T	C	15: 36,015,627	D1037G	possibly damaging	Het
Rnf215	A	G	11: 4,135,843	I107M	probably benign	Het
Rybp	A	T	6: 100,287,270	M3K	probably damaging	Het
Sgo2b	T	C	8: 63,926,556	S1081G	possibly damaging	Het
Slfn10-ps	C	T	11: 83,035,287		noncoding transcript	Het
Spag17	T	C	3: 100,056,152	V1062A	probably benign	Het
Sult2a1	A	T	7: 13,836,019	I96K	possibly damaging	Het
Tbc1d5	A	G	17: 50,735,967	I831T	probably damaging	Het
Thbs3	T	C	3: 89,223,385		probably benign	Het
Tmub2	T	C	11: 102,288,240	L255S	possibly damaging	Het
Trank1	T	A	9: 111,392,958	L2921Q	probably benign	Het
Tuba8	A	T	6: 121,226,101		probably benign	Het
Vmn2r25	T	C	6: 123,828,492	I469V	probably benign	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
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
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'- AGAAAGCAACACCTGGTCCG -3'
(R):5'- GCCAAAGAAGGTACCAGCCTATG -3'

Sequencing Primer
(F):5'- TCCGGGCCAAGGAGCAAAG -3'
(R):5'- TATGGACCCTAGTGCCAT -3'

Posted On

2016-09-01