Mutagenetix > Incidental Mutation

Incidental Mutation 'R1052:Pdlim3'

94052

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

MMRRC Submission

039142-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R1052 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46338498-46372585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46349837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 49 (I49N)

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 damaging
Transcript: ENSMUST00000034053
AA Change: I49N

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

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: I49N

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: I49N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211190

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,535,417 (GRCm39)	Y528F	possibly damaging	Het
Acad10	G	A	5: 121,787,604 (GRCm39)	T115I	possibly damaging	Het
Adam19	T	C	11: 46,018,092 (GRCm39)	F385L	probably damaging	Het
Adgb	T	C	10: 10,318,357 (GRCm39)	N162D	probably benign	Het
Arhgap20	C	A	9: 51,757,570 (GRCm39)	P521T	probably damaging	Het
Arsa	A	T	15: 89,359,380 (GRCm39)	L134Q	probably damaging	Het
Atp5f1b	A	G	10: 127,925,921 (GRCm39)	Y508C	probably damaging	Het
AW554918	G	A	18: 25,553,067 (GRCm39)	M287I	probably benign	Het
Bmp4	T	C	14: 46,621,360 (GRCm39)	K395E	probably damaging	Het
Cacna2d4	A	G	6: 119,277,294 (GRCm39)	Y669C	probably damaging	Het
Casq2	T	C	3: 102,051,550 (GRCm39)		probably null	Het
Cdk5rap1	A	T	2: 154,202,519 (GRCm39)	I237N	possibly damaging	Het
Cerk	G	C	15: 86,033,565 (GRCm39)	S286C	possibly damaging	Het
Cir1	A	C	2: 73,117,987 (GRCm39)	L186R	probably damaging	Het
Csf3r	A	T	4: 125,936,781 (GRCm39)		probably null	Het
Cyp3a41a	A	T	5: 145,642,621 (GRCm39)	I246K	possibly damaging	Het
Cyp8b1	A	G	9: 121,744,348 (GRCm39)	F328S	possibly damaging	Het
Dzank1	A	T	2: 144,355,365 (GRCm39)	V110D	probably benign	Het
Gm6729	T	A	10: 86,376,799 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,604,246 (GRCm39)	F246L	probably benign	Het
Gnpat	T	A	8: 125,605,255 (GRCm39)	L248H	probably damaging	Het
Gstm7	T	C	3: 107,834,266 (GRCm39)	T163A	probably benign	Het
Hspa5	A	G	2: 34,665,110 (GRCm39)	T424A	probably damaging	Het
Itgb1	T	G	8: 129,439,786 (GRCm39)	D158E	probably damaging	Het
Kif21a	A	G	15: 90,819,853 (GRCm39)	V1637A	probably benign	Het
Kl	G	T	5: 150,905,985 (GRCm39)	V452F	probably damaging	Het
Krt23	T	C	11: 99,369,045 (GRCm39)	N416S	probably benign	Het
Lama4	A	T	10: 38,968,241 (GRCm39)	H1461L	possibly damaging	Het
Lamc3	A	G	2: 31,818,814 (GRCm39)	T1180A	probably benign	Het
Mboat2	T	C	12: 24,996,527 (GRCm39)	Y145H	probably damaging	Het
Mlxipl	T	A	5: 135,142,564 (GRCm39)	I126N	probably damaging	Het
Myo16	T	A	8: 10,620,181 (GRCm39)	N1577K	possibly damaging	Het
Nlrp4f	A	G	13: 65,332,897 (GRCm39)	V87A	possibly damaging	Het
Or5al5	A	G	2: 85,961,915 (GRCm39)	F31L	probably benign	Het
Or6p1	A	T	1: 174,258,701 (GRCm39)	K236*	probably null	Het
Pask	A	T	1: 93,258,549 (GRCm39)	D266E	probably benign	Het
Pcdhb17	A	G	18: 37,619,899 (GRCm39)	Y563C	probably damaging	Het
Pla2g4c	T	A	7: 13,077,334 (GRCm39)	V292E	possibly damaging	Het
Pramel23	T	C	4: 143,423,477 (GRCm39)	I437M	possibly damaging	Het
Prrt4	G	T	6: 29,169,813 (GRCm39)	Q880K	possibly damaging	Het
Pygb	A	G	2: 150,628,858 (GRCm39)	D24G	probably benign	Het
R3hcc1l	T	A	19: 42,552,093 (GRCm39)	D363E	probably damaging	Het
Rif1	A	C	2: 52,001,574 (GRCm39)	Q1676P	probably benign	Het
Ryr1	C	A	7: 28,795,683 (GRCm39)	R1069L	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc2a13	A	G	15: 91,296,363 (GRCm39)	V317A	probably damaging	Het
Slc35b4	A	T	6: 34,138,619 (GRCm39)	F197I	probably damaging	Het
Tchhl1	G	A	3: 93,377,520 (GRCm39)	V75I	probably benign	Het
Ubr4	T	C	4: 139,182,771 (GRCm39)	S3521P	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp335	GTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTC	2: 164,749,388 (GRCm39)		probably benign	Het
Zfp874a	T	G	13: 67,590,539 (GRCm39)	I382L	possibly damaging	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
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
R7701:Pdlim3	UTSW	8	46,361,576 (GRCm39)	missense	probably benign	0.17
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'- AGTTCAAGTCAAGTACCAAAGTTGCCA -3'
(R):5'- TTTCTCACGAGGCAGAGGAGACCA -3'

Sequencing Primer
(F):5'- CACTGATACAATTGAGCAACTGAG -3'
(R):5'- AGGCAGAGGAGACCAGTTAG -3'

Posted On

2014-01-05