Mutagenetix > Incidental Mutation

Incidental Mutation 'R7701:Pdlim3'

594002

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

MMRRC Submission

045762-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R7701 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46338498-46372585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46361576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 134 (D134G)

Ref Sequence

ENSEMBL: ENSMUSP00000034053 (fasta)

Gene Model

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

AlphaFold

O70209

PDB Structure

Solution structure of PDZ domain of mouse Alpha-actinin-2 associated LIM protein [SOLUTION NMR]
Solution structure of the LIM domain of alpha-actinin-2 associated LIM protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000034053
AA Change: D134G

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: D134G

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 benign
Transcript: ENSMUST00000210422

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	T	C	2: 170,443,225 (GRCm39)		probably benign	Het
4932414N04Rik	G	A	2: 68,561,548 (GRCm39)	V292M	possibly damaging	Het
Actn1	A	T	12: 80,221,328 (GRCm39)	V575E	possibly damaging	Het
Arhgef1	T	C	7: 24,612,003 (GRCm39)	S129P	probably benign	Het
Aup1	T	C	6: 83,032,908 (GRCm39)	V214A	probably benign	Het
Bbs10	A	G	10: 111,135,874 (GRCm39)	E329G	probably damaging	Het
Brinp2	A	G	1: 158,094,030 (GRCm39)		probably null	Het
Ccdc3	A	G	2: 5,142,868 (GRCm39)	T42A	possibly damaging	Het
Cd276	T	C	9: 58,442,810 (GRCm39)	N215S	probably benign	Het
Col24a1	T	A	3: 145,020,772 (GRCm39)	M381K	probably benign	Het
Col24a1	A	G	3: 145,072,656 (GRCm39)		probably null	Het
Col6a4	A	C	9: 105,960,087 (GRCm39)	F19V	probably benign	Het
Crybg1	G	T	10: 43,865,139 (GRCm39)	A1446E	probably benign	Het
Dach1	C	T	14: 98,140,670 (GRCm39)	R496K	probably damaging	Het
Dchs2	A	G	3: 83,253,513 (GRCm39)	T2308A	possibly damaging	Het
Duxf1	A	G	10: 58,058,885 (GRCm39)	V623A	possibly damaging	Het
Dync1h1	G	A	12: 110,585,080 (GRCm39)	D828N	probably damaging	Het
Eif2a	A	T	3: 58,459,991 (GRCm39)	H462L	possibly damaging	Het
Flot2	A	G	11: 77,928,942 (GRCm39)		probably null	Het
Gas2	T	G	7: 51,643,101 (GRCm39)	Y263*	probably null	Het
Gm5111	A	G	6: 48,567,027 (GRCm39)	I81V	unknown	Het
Iqcm	A	G	8: 76,281,539 (GRCm39)	I7M	probably benign	Het
Kank1	G	A	19: 25,389,129 (GRCm39)		probably null	Het
Lnx2	A	T	5: 146,961,333 (GRCm39)	V533E	probably damaging	Het
Mapk8ip3	G	T	17: 25,120,378 (GRCm39)	P904T	possibly damaging	Het
Mcm5	C	A	8: 75,850,551 (GRCm39)	H596N	probably benign	Het
Miip	A	T	4: 147,947,371 (GRCm39)	V237E	probably null	Het
Mob3a	G	A	10: 80,525,768 (GRCm39)	A181V	probably damaging	Het
Mrpl38	G	A	11: 116,026,104 (GRCm39)	R99W	probably benign	Het
Naa25	A	G	5: 121,564,042 (GRCm39)	T486A	probably benign	Het
Or2z9	T	A	8: 72,854,030 (GRCm39)	L142Q	probably damaging	Het
Or5b102	A	G	19: 13,041,445 (GRCm39)	I223M	probably damaging	Het
Or8g4	A	G	9: 39,662,597 (GRCm39)	Y305C	probably benign	Het
Pcdha8	A	T	18: 37,126,864 (GRCm39)	N449Y	probably damaging	Het
Pcdhb6	A	T	18: 37,467,562 (GRCm39)	D161V	probably damaging	Het
Phpt1	A	G	2: 25,464,799 (GRCm39)	V18A	probably benign	Het
Prg4	T	C	1: 150,333,293 (GRCm39)	K177E	possibly damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Rab14	A	G	2: 35,073,427 (GRCm39)	F150L		Het
Rgs14	A	G	13: 55,527,138 (GRCm39)	D169G	probably damaging	Het
Rreb1	C	T	13: 38,114,092 (GRCm39)	L484F	possibly damaging	Het
Rsph14	A	T	10: 74,793,608 (GRCm39)	Y264*	probably null	Het
Scly	T	C	1: 91,236,030 (GRCm39)	I152T		Het
Ska1	A	T	18: 74,335,714 (GRCm39)	H85Q	probably damaging	Het
Slc35b3	T	C	13: 39,128,611 (GRCm39)	M159V	probably benign	Het
Smok2b	A	G	17: 13,453,767 (GRCm39)		probably benign	Het
Spock1	G	A	13: 57,735,472 (GRCm39)	Q103*	probably null	Het
Topbp1	T	C	9: 103,210,184 (GRCm39)	V914A	probably damaging	Het
Tspan3	A	T	9: 56,054,803 (GRCm39)	Y41*	probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,560,028 (GRCm39)	I29458L	possibly damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Zfat	C	A	15: 68,052,757 (GRCm39)	E346*	probably null	Het
Zfp341	T	A	2: 154,476,000 (GRCm39)		probably null	Het
Zfp54	A	G	17: 21,654,357 (GRCm39)	T284A	probably benign	Het

Other mutations in Pdlim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Pdlim3	APN	8	46,349,827 (GRCm39)	missense	probably damaging	1.00
IGL01341:Pdlim3	APN	8	46,368,277 (GRCm39)	missense	probably benign
IGL02189:Pdlim3	APN	8	46,338,630 (GRCm39)	missense	probably damaging	1.00
IGL02834:Pdlim3	APN	8	46,370,569 (GRCm39)	missense	probably benign	0.02
IGL03165:Pdlim3	APN	8	46,372,035 (GRCm39)	missense	possibly damaging	0.82
C9142:Pdlim3	UTSW	8	46,349,869 (GRCm39)	missense	probably benign	0.37
R0244:Pdlim3	UTSW	8	46,361,497 (GRCm39)	intron	probably benign
R0369:Pdlim3	UTSW	8	46,370,543 (GRCm39)	missense	probably benign
R1052:Pdlim3	UTSW	8	46,349,837 (GRCm39)	missense	probably damaging	1.00
R1142:Pdlim3	UTSW	8	46,371,998 (GRCm39)	missense	probably damaging	1.00
R1531:Pdlim3	UTSW	8	46,349,800 (GRCm39)	missense	probably damaging	1.00
R1607:Pdlim3	UTSW	8	46,349,896 (GRCm39)	missense	probably damaging	1.00
R1645:Pdlim3	UTSW	8	46,349,785 (GRCm39)	missense	probably benign	0.37
R5641:Pdlim3	UTSW	8	46,368,300 (GRCm39)	splice site	probably null
R5731:Pdlim3	UTSW	8	46,368,284 (GRCm39)	missense	probably benign
R6501:Pdlim3	UTSW	8	46,361,639 (GRCm39)	missense	possibly damaging	0.95
R7111:Pdlim3	UTSW	8	46,370,539 (GRCm39)	missense	probably damaging	0.99
R7637:Pdlim3	UTSW	8	46,362,102 (GRCm39)	missense	probably damaging	1.00
R8223:Pdlim3	UTSW	8	46,353,562 (GRCm39)	missense	possibly damaging	0.80
R8380:Pdlim3	UTSW	8	46,370,572 (GRCm39)	missense	probably benign
R9163:Pdlim3	UTSW	8	46,338,711 (GRCm39)	critical splice donor site	probably null
R9673:Pdlim3	UTSW	8	46,368,195 (GRCm39)	missense	possibly damaging	0.52
Z1177:Pdlim3	UTSW	8	46,372,021 (GRCm39)	nonsense	probably null
Z1177:Pdlim3	UTSW	8	46,362,117 (GRCm39)	missense	possibly damaging	0.77
Z1177:Pdlim3	UTSW	8	46,362,116 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ACCTTTCAGGGACAGGATAGGC -3'
(R):5'- CCTTGGGAAAGAAACTGCAGC -3'

Sequencing Primer
(F):5'- TCCTGTAGCAGATAACGATGC -3'
(R):5'- CTGCAGCATGAAGAACGCCG -3'

Posted On

2019-11-12