Mutagenetix > Incidental Mutation

Incidental Mutation 'R9558:Pdzrn4'

720883

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: 0.280) question?

Stock #

R9558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92396881-92771819 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92401996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 249 (D249G)

Ref Sequence

ENSEMBL: ENSMUSP00000133159 (fasta)

Gene Model

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

AlphaFold

E9PUZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169942
AA Change: D249G

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133159
Gene: ENSMUSG00000036218
AA Change: D249G

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,454,742	P126L	probably damaging	Het
4930402H24Rik	T	C	2: 130,775,740	N433D	probably damaging	Het
Adh7	T	A	3: 138,226,282	I219N	probably damaging	Het
Ash1l	A	G	3: 88,982,214	S467G	probably benign	Het
Atm	T	C	9: 53,500,781	I992V	probably benign	Het
Bdnf	T	C	2: 109,709,654	V31A		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Ccdc129	T	A	6: 55,967,984	H563Q	possibly damaging	Het
Ccnk	A	T	12: 108,189,138	K118I	possibly damaging	Het
Ccr2	T	A	9: 124,106,067	V128E	possibly damaging	Het
Cd163	C	A	6: 124,320,512	N872K	probably benign	Het
Cd38	A	G	5: 43,900,450	I121M	probably damaging	Het
Cntnap5c	A	T	17: 58,364,162		probably null	Het
Cyp11b1	T	C	15: 74,838,940	E257G	probably benign	Het
Cyp2d40	T	C	15: 82,761,466	T113A	unknown	Het
Ddx23	A	G	15: 98,647,552	V625A	possibly damaging	Het
Fbxw17	T	C	13: 50,423,275	Y68H	probably damaging	Het
Fignl1	C	T	11: 11,801,778	V426I	possibly damaging	Het
Ggn	C	G	7: 29,172,548	P487R	probably damaging	Het
Gjb6	G	A	14: 57,124,804		probably benign	Het
Gm5930	A	G	14: 44,338,557	F2L	possibly damaging	Het
Il1r2	A	G	1: 40,123,262	E355G	probably damaging	Het
Jarid2	C	T	13: 44,914,777	R1092W	possibly damaging	Het
Lama1	A	G	17: 67,817,009	T2810A		Het
Ltn1	A	T	16: 87,423,407	S267R	probably benign	Het
Mapre2	T	A	18: 23,858,138	H196Q	possibly damaging	Het
Mfap4	A	C	11: 61,486,139	S65R	probably benign	Het
Mterf1a	C	T	5: 3,891,807	W20*	probably null	Het
Myh1	C	G	11: 67,217,792	H1345D	possibly damaging	Het
Myh3	T	A	11: 67,092,490	C948S	possibly damaging	Het
Ndufa8	A	G	2: 36,036,593	S144P	probably benign	Het
Nudc	G	A	4: 133,533,465	R257C	probably benign	Het
Nufip1	A	G	14: 76,111,041	M37V	probably benign	Het
Ogn	A	G	13: 49,611,307	E61G	probably benign	Het
Olfr669	T	C	7: 104,939,408	V294A	possibly damaging	Het
Pcdh8	A	G	14: 79,768,940	S728P	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Setd2	C	T	9: 110,547,560	H148Y	probably damaging	Het
Smok2b	G	A	17: 13,234,997	G15R	probably damaging	Het
Sun1	A	G	5: 139,225,264	T91A	probably benign	Het
Tbc1d31	G	A	15: 57,932,592	A194T	probably damaging	Het
Tiparp	C	T	3: 65,531,431	S56F	possibly damaging	Het
Tmf1	C	T	6: 97,170,332	E558K	possibly damaging	Het
Trip6	A	G	5: 137,310,813	S344P	probably benign	Het
Ube2q1	A	G	3: 89,779,459	K207E	probably benign	Het
Ubr2	A	G	17: 46,951,917	V1256A	probably benign	Het
Vmn1r69	T	A	7: 10,580,258	Y182F	probably benign	Het
Wipf1	C	A	2: 73,437,676	R126L	probably damaging	Het
Zc3hav1	T	C	6: 38,354,107	E39G	possibly 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
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'- GCTGGACTCGCTCATTACAG -3'
(R):5'- AAACATCAGTTTCTCCACTGCC -3'

Sequencing Primer
(F):5'- CCAAGTTCTCAGCTAAGAGAGTTGC -3'
(R):5'- CACTGCCATGAGATTTATACTCTG -3'

Posted On

2022-08-09