Mutagenetix > Incidental Mutation

Incidental Mutation 'R9622:Pdzrn4'

724900

Institutional Source

Beutler Lab

Gene Symbol

Pdzrn4

Ensembl Gene

ENSMUSG00000036218

Gene Name

PDZ domain containing RING finger 4

Synonyms

1110017D07Rik, LNX4, SAMCAP3L

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R9622 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92397068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 52 (W52R)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000169942
AA Change: W52R

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

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: W52R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	A	11: 23,584,590	K589I	probably damaging	Het
2610301B20Rik	T	C	4: 10,893,304	I141T	possibly damaging	Het
Ablim2	A	G	5: 35,849,545	K435E	probably damaging	Het
Acly	T	C	11: 100,504,959	T412A	probably damaging	Het
Aldh3b2	T	A	19: 3,979,489	D287E	probably benign	Het
Asphd1	G	A	7: 126,948,802	P110S		Het
Atg7	T	C	6: 114,678,032	L142P	probably benign	Het
Atp13a4	T	C	16: 29,420,459	I796V		Het
Bbx	A	G	16: 50,274,659	V98A	probably damaging	Het
Brca2	T	C	5: 150,556,945	S2727P	probably damaging	Het
Camk1	T	A	6: 113,341,889	D21V	possibly damaging	Het
Cdc5l	A	T	17: 45,404,783	D634E	probably benign	Het
Cyfip1	A	T	7: 55,879,105	D275V	possibly damaging	Het
Cyp4a30b	A	G	4: 115,470,965	E477G	probably damaging	Het
Cyp4f16	C	T	17: 32,550,272	P379S	probably damaging	Het
Dchs2	C	T	3: 83,356,459	Q3345*	probably null	Het
Dnaaf1	A	G	8: 119,588,262	T270A	possibly damaging	Het
Dnah3	A	G	7: 119,962,133	V334A		Het
Dnhd1	T	C	7: 105,704,135	F2832L	probably benign	Het
Dock8	A	G	19: 25,121,181	N623S	probably null	Het
Eif4enif1	T	C	11: 3,215,714	I97T	probably benign	Het
Elmo1	C	G	13: 20,208,140	P29A	probably benign	Het
Erich6	G	C	3: 58,636,741	P142A	possibly damaging	Het
Fam135b	T	C	15: 71,525,837	R125G	probably damaging	Het
Fcrla	T	A	1: 170,922,239	H83L	probably damaging	Het
Flt3	C	T	5: 147,367,031	E366K	possibly damaging	Het
Gabbr2	C	T	4: 46,724,283		probably null	Het
Gigyf1	T	A	5: 137,524,664	L809*	probably null	Het
Glg1	C	T	8: 111,172,501	G711R	probably damaging	Het
Gm13101	A	G	4: 143,965,778	S218P	probably benign	Het
Gp1bb	T	C	16: 18,620,777	E189G	probably benign	Het
H2-Q1	A	T	17: 35,323,556	I326F	probably benign	Het
Hoxb3	A	T	11: 96,344,594	K116*	probably null	Het
Kcnb1	T	C	2: 167,188,241	Y128C	probably damaging	Het
Kif5b	G	A	18: 6,225,672	R171C	probably damaging	Het
Lcn4	G	A	2: 26,671,216	Q18*	probably null	Het
Lrp1b	G	A	2: 40,889,342	Q2677*	probably null	Het
Map4k3	T	A	17: 80,651,109	T145S	probably damaging	Het
Mas1	T	C	17: 12,842,011	E175G	probably benign	Het
Metap2	T	C	10: 93,871,504	T202A	probably benign	Het
Mras	A	T	9: 99,393,001	M131K	probably benign	Het
Mtor	T	C	4: 148,483,712	V1092A	probably damaging	Het
Mug2	T	C	6: 122,051,792	S582P	probably benign	Het
Myo5b	A	G	18: 74,714,946	N1085S	probably damaging	Het
Nav3	T	C	10: 109,767,242	T1149A	probably benign	Het
Nipbl	A	T	15: 8,336,889	S1239T	probably benign	Het
Nkpd1	C	A	7: 19,523,942	R549S	probably benign	Het
Olfr3	A	G	2: 36,812,609	L161P	probably damaging	Het
Olfr512	T	A	7: 108,713,470	M39K	probably benign	Het
Olfr641	T	A	7: 104,040,315	V173D	probably damaging	Het
Olfr796	G	A	10: 129,608,215	H89Y	probably benign	Het
Pcdh18	T	C	3: 49,756,780	N29D	probably benign	Het
Plekhb1	T	C	7: 100,655,381	K39E	probably damaging	Het
Psmb4	C	A	3: 94,884,974	E212D	probably benign	Het
Rcc1l	A	G	5: 134,176,509	L69P	probably damaging	Het
Robo2	T	C	16: 73,933,064	R1082G	probably benign	Het
Rorb	T	C	19: 18,977,751	Y167C	probably damaging	Het
Sbsn	GGAAATATGGCAGACAAGTTTGGTCAGGGGGCCCACCATGCTTTTGGTCAGGGCAG	GG	7: 30,752,642		probably benign	Het
Scaf8	T	A	17: 3,197,895	F1164L	probably benign	Het
Scn10a	A	T	9: 119,608,980	M1940K	probably benign	Het
Serpinb2	A	G	1: 107,524,568	N292S	probably benign	Het
Sparcl1	C	A	5: 104,087,132	V506L	possibly damaging	Het
Stt3a	A	G	9: 36,749,729	V262A	possibly damaging	Het
Syt17	C	A	7: 118,436,968	M58I	probably benign	Het
Tas2r134	A	C	2: 51,628,346	N279T	possibly damaging	Het
Tbc1d2	T	C	4: 46,609,065	E724G	probably damaging	Het
Teddm1b	T	A	1: 153,874,874	L143Q		Het
Tlk1	T	A	2: 70,786,937	R66S	probably damaging	Het
Tmem139	A	T	6: 42,263,242		probably null	Het
Tom1l2	T	C	11: 60,261,116	Y155C	possibly damaging	Het
Trmt1l	C	A	1: 151,428,959	S28*	probably null	Het
Ttf2	T	C	3: 100,952,602	I679V	probably benign	Het
Unc13b	T	G	4: 43,172,513	F1114V		Het
Vmn2r25	T	A	6: 123,839,620	D334V	probably damaging	Het
Vps13c	T	G	9: 67,949,433	Y2581D	probably damaging	Het
Xkr5	A	G	8: 18,934,231	S432P	probably benign	Het
Zc2hc1b	G	A	10: 13,167,933	P73S	possibly damaging	Het
Zfhx2	A	C	14: 55,066,026	F1500L	probably benign	Het
Zfp3	T	G	11: 70,771,913	S233A	possibly damaging	Het
Zmat5	T	C	11: 4,737,453	W169R	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
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
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'- GCCACAGCTTTGAAACTCCAAG -3'
(R):5'- GATACCTGCGCTGCAACAAG -3'

Sequencing Primer
(F):5'- GCCAAACTTATTCTGAGCTCAC -3'
(R):5'- GCTGCAACAAGCTGACCTG -3'

Posted On

2022-09-12