Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00767:Pdlim3'

12967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

Accession Numbers

Genbank: NM_016798; MGI: 1859274

Is this an essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

IGL00767

Quality Score

Status

Chromosome

Chromosomal Location

45885461-45919548 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45896790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 46 (G46R)

Ref Sequence

ENSEMBL: ENSMUSP00000148113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034053] [ENSMUST00000210422]

AlphaFold

O70209

Predicted Effect

probably damaging
Transcript: ENSMUST00000034053
AA Change: G46R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: G46R

Domain	Start	End	E-Value	Type
PDZ	11	84	3.86e-16	SMART
ZM	137	162	5.55e-11	SMART
LIM	245	296	3.73e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000210422
AA Change: G46R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211190

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,334,750		probably benign	Het
Anpep	A	C	7: 79,840,890	S293A	probably benign	Het
Dgkh	T	A	14: 78,587,261		probably benign	Het
Dlg5	T	A	14: 24,165,285	T657S	probably damaging	Het
Hpf1	A	G	8: 60,896,802	I155V	probably benign	Het
Il12rb2	T	C	6: 67,303,562	I554V	possibly damaging	Het
Mindy2	A	G	9: 70,634,003		probably null	Het
Nostrin	A	G	2: 69,175,775	T268A	probably benign	Het
Npy6r	A	G	18: 44,276,318	T269A	probably benign	Het
Nt5dc3	T	A	10: 86,820,273		probably benign	Het
Osgin2	G	A	4: 16,006,377	H106Y	probably damaging	Het
Pdpk1	T	G	17: 24,106,861	K147N	possibly damaging	Het
Pfkfb3	T	C	2: 11,488,754	D137G	probably damaging	Het
Polg	G	A	7: 79,451,925	P1048S	probably damaging	Het
Ptcd3	A	T	6: 71,903,448	I97K	probably damaging	Het
Serpinb10	G	T	1: 107,536,077	V30F	possibly damaging	Het
Stk17b	A	G	1: 53,764,023		probably benign	Het
Tll1	G	A	8: 64,071,321	R444C	probably damaging	Het
Ttbk2	A	G	2: 120,745,745	V848A	probably benign	Het
Ttn	T	C	2: 76,885,673		probably benign	Het

Other mutations in Pdlim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Pdlim3	APN	8	45915240	missense	probably benign
IGL02189:Pdlim3	APN	8	45885593	missense	probably damaging	1.00
IGL02834:Pdlim3	APN	8	45917532	missense	probably benign	0.02
IGL03165:Pdlim3	APN	8	45918998	missense	possibly damaging	0.82
C9142:Pdlim3	UTSW	8	45896832	missense	probably benign	0.37
R0244:Pdlim3	UTSW	8	45908460	intron	probably benign
R0369:Pdlim3	UTSW	8	45917506	missense	probably benign
R1052:Pdlim3	UTSW	8	45896800	missense	probably damaging	1.00
R1142:Pdlim3	UTSW	8	45918961	missense	probably damaging	1.00
R1531:Pdlim3	UTSW	8	45896763	missense	probably damaging	1.00
R1607:Pdlim3	UTSW	8	45896859	missense	probably damaging	1.00
R1645:Pdlim3	UTSW	8	45896748	missense	probably benign	0.37
R5641:Pdlim3	UTSW	8	45915263	splice site	probably null
R5731:Pdlim3	UTSW	8	45915247	missense	probably benign
R6501:Pdlim3	UTSW	8	45908602	missense	possibly damaging	0.95
R7111:Pdlim3	UTSW	8	45917502	missense	probably damaging	0.99
R7637:Pdlim3	UTSW	8	45909065	missense	probably damaging	1.00
R7701:Pdlim3	UTSW	8	45908539	missense	probably benign	0.17
R8223:Pdlim3	UTSW	8	45900525	missense	possibly damaging	0.80
R8380:Pdlim3	UTSW	8	45917535	missense	probably benign
R9163:Pdlim3	UTSW	8	45885674	critical splice donor site	probably null
R9673:Pdlim3	UTSW	8	45915158	missense	possibly damaging	0.52
Z1177:Pdlim3	UTSW	8	45909079	missense	possibly damaging	0.63
Z1177:Pdlim3	UTSW	8	45909080	missense	possibly damaging	0.77
Z1177:Pdlim3	UTSW	8	45918984	nonsense	probably null

Posted On

2012-12-06