Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Pdzrn4'

426668

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

MMRRC Submission

042846-MU

Accession Numbers

Essential gene?

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

Stock #

R5422 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92677621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 303 (G303S)

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: G64S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040456
Gene: ENSMUSG00000036218
AA Change: G64S

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 benign
Transcript: ENSMUST00000169942
AA Change: G303S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: G303S

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 113,698,974	S1219G	probably benign	Het
Adgrg5	T	A	8: 94,933,952	I73N	probably damaging	Het
Agmat	C	A	4: 141,755,833	H193N	probably damaging	Het
Ambn	T	C	5: 88,464,511		probably null	Het
Atp8b5	T	A	4: 43,366,644	C803S	probably benign	Het
BC005561	T	C	5: 104,519,646	I678T	probably damaging	Het
Btaf1	A	T	19: 36,951,107	R109S	probably benign	Het
Btnl6	C	T	17: 34,514,107	G261R	possibly damaging	Het
Cd163l1	A	T	7: 140,224,155	H422L	probably benign	Het
Clk3	A	G	9: 57,765,438	V27A	probably benign	Het
Clu	A	G	14: 65,975,602	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,352,773	F43L	probably benign	Het
Elf3	C	T	1: 135,255,040	E316K	probably damaging	Het
Epha5	A	T	5: 84,331,490	D218E	probably damaging	Het
Ereg	T	C	5: 91,074,807		probably null	Het
Ewsr1	A	G	11: 5,080,668		probably benign	Het
Fat4	A	G	3: 38,887,245	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,375,810	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,728,108		probably null	Het
Fn3k	C	A	11: 121,450,122	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,982,228	I2964V	probably benign	Het
Gbx1	C	T	5: 24,504,669	V393I	possibly damaging	Het
Gch1	C	T	14: 47,157,449	A187T	probably damaging	Het
Ghdc	C	A	11: 100,769,194	K242N	probably benign	Het
Ghrhr	A	G	6: 55,388,203	H394R	probably benign	Het
Gje1	G	A	10: 14,716,684	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,465,228	S236R	probably benign	Het
Kcnj5	A	G	9: 32,317,705	Y66H	probably benign	Het
Kif15	T	A	9: 122,984,889		probably null	Het
Magi3	C	T	3: 104,051,368	C467Y	probably damaging	Het
Map7	G	T	10: 20,266,766	V303F	probably damaging	Het
Mapk11	A	G	15: 89,146,285	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,531,722		probably null	Het
Myh7b	A	C	2: 155,631,034	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,515,365	I328N	probably damaging	Het
Nprl2	C	A	9: 107,543,597	R144S	probably benign	Het
Ogfr	G	T	2: 180,595,274	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,595,275	D551V	probably benign	Het
Olfr250	A	T	9: 38,367,974	T143S	probably benign	Het
Olfr524	A	T	7: 140,202,392	V126E	probably damaging	Het
Parp14	T	C	16: 35,866,175	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,479,867	T627S	probably damaging	Het
Plcl1	A	T	1: 55,697,384	Y628F	probably benign	Het
Ptpn9	T	A	9: 57,033,157	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,419,626	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,088,134	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,181,174	R218L	possibly damaging	Het
Serpine2	C	A	1: 79,816,875	V114L	probably benign	Het
Serpine2	T	C	1: 79,821,489	Y16C	probably benign	Het
Sgms1	G	T	19: 32,159,832	N111K	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,848,868	M1K	probably null	Het
Tcf12	A	T	9: 71,869,038	H403Q	probably damaging	Het
Thsd7b	T	C	1: 129,921,334	S928P	probably benign	Het
Tjp1	A	T	7: 65,302,967	F1540I	probably damaging	Het
Tph2	T	A	10: 115,079,764	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676	I2112V	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Zfp335	T	C	2: 164,907,730	K249R	probably damaging	Het
Zfp54	C	A	17: 21,434,526	S427R	probably benign	Het
Zfp607b	A	G	7: 27,702,388	T90A	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
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'- GAAAGCTGGTCAGTCTGTCTGG -3'
(R):5'- AAACTGCCAACTTCTGGGGTG -3'

Sequencing Primer
(F):5'- GGCACCTTTCTGTTCTTACTCTGAC -3'
(R):5'- CTTTCAAAAGTGAACGGCAAAC -3'

Posted On

2016-09-01