Mutagenetix > Incidental Mutation

Incidental Mutation 'R6501:Pdlim3'

519729

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

MMRRC Submission

044633-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R6501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46338498-46372585 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46361639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 155 (I155T)

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

possibly damaging
Transcript: ENSMUST00000034053
AA Change: I155T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: I155T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211190

Meta Mutation Damage Score

0.2901

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (48/48)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,914,165 (GRCm39)	C154*	probably null	Het
Ada	A	G	2: 163,570,108 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,886,276 (GRCm39)	V535I	probably damaging	Het
Bptf	T	C	11: 106,968,509 (GRCm39)	N1058S	probably null	Het
Cdadc1	C	T	14: 59,823,898 (GRCm39)	C198Y	probably benign	Het
Chrna7	G	A	7: 62,755,863 (GRCm39)	R228C	probably damaging	Het
Cts6	T	C	13: 61,344,149 (GRCm39)	N301S	probably damaging	Het
Cts8	T	A	13: 61,398,756 (GRCm39)	D250V	probably damaging	Het
Cyp26a1	G	T	19: 37,687,518 (GRCm39)	R235L	possibly damaging	Het
Disc1	A	T	8: 125,944,844 (GRCm39)	M598L	probably benign	Het
Ear6	T	A	14: 52,091,681 (GRCm39)	V76D	possibly damaging	Het
Grifin	A	G	5: 140,549,036 (GRCm39)	*145R	probably null	Het
Htr2b	T	G	1: 86,038,363 (GRCm39)	E11A	probably damaging	Het
Krtap4-9	T	A	11: 99,676,255 (GRCm39)		probably benign	Het
Larp4b	A	C	13: 9,218,829 (GRCm39)	H522P	probably damaging	Het
Macf1	A	T	4: 123,363,425 (GRCm39)		probably null	Het
Mdfic	T	C	6: 15,770,516 (GRCm39)	L174P	possibly damaging	Het
Mmp17	A	G	5: 129,683,469 (GRCm39)	E535G	probably benign	Het
Nfxl1	A	T	5: 72,685,852 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,100,989 (GRCm39)	T260S	probably benign	Het
Or4k44	C	T	2: 111,368,124 (GRCm39)	G170D	probably damaging	Het
Or7e168	A	T	9: 19,720,271 (GRCm39)	Y219F	possibly damaging	Het
Or8b1c	A	T	9: 38,384,585 (GRCm39)	I181F	possibly damaging	Het
Pbx1	G	T	1: 168,037,103 (GRCm39)	D109E	probably damaging	Het
Pde4d	A	T	13: 109,253,476 (GRCm39)	H101L	probably benign	Het
Plekha5	T	A	6: 140,471,655 (GRCm39)	Y26*	probably null	Het
Prpf6	T	A	2: 181,263,713 (GRCm39)	L191*	probably null	Het
Rabl6	A	G	2: 25,492,459 (GRCm39)	V80A	possibly damaging	Het
Rp1	T	C	1: 4,381,503 (GRCm39)		probably benign	Het
Sec14l1	A	G	11: 117,047,676 (GRCm39)	S698G	probably damaging	Het
Skic2	A	G	17: 35,063,412 (GRCm39)	S622P	possibly damaging	Het
Slc19a1	G	A	10: 76,885,440 (GRCm39)	G447S	probably benign	Het
Slc2a6	A	T	2: 26,913,143 (GRCm39)	Y383*	probably null	Het
Slc9a9	C	A	9: 94,818,424 (GRCm39)	Q273K	probably benign	Het
Spint2	A	G	7: 28,963,131 (GRCm39)	Y56H	probably damaging	Het
Sspo	T	A	6: 48,472,146 (GRCm39)	M123K	possibly damaging	Het
Syne2	A	G	12: 76,074,621 (GRCm39)		probably null	Het
Trdn	A	C	10: 33,342,450 (GRCm39)	K619N	probably benign	Het
Ttll13	A	G	7: 79,899,924 (GRCm39)	T119A	possibly damaging	Het
Ttn	T	C	2: 76,615,990 (GRCm39)	Y8324C	probably damaging	Het
Ttn	T	C	2: 76,728,602 (GRCm39)		probably benign	Het
Vav2	A	G	2: 27,186,231 (GRCm39)	L208P	probably damaging	Het
Vmn1r179	A	G	7: 23,628,342 (GRCm39)	I178V	probably benign	Het
Vmn1r210	T	C	13: 23,011,705 (GRCm39)	M194V	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,166 (GRCm39)	T647S	probably benign	Het
Wdr49	T	A	3: 75,246,765 (GRCm39)	H289L	probably benign	Het
Wnk2	T	G	13: 49,300,159 (GRCm39)	K184Q	probably damaging	Het
Zfp758	A	G	17: 22,590,978 (GRCm39)		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
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'- TAACAGCTTTATTGTGCGCTCTG -3'
(R):5'- GCTTCGGAGTAACAAGAGTCC -3'

Sequencing Primer
(F):5'- ATTGTGCGCTCTGTGGCTC -3'
(R):5'- CTTCGGAGTAACAAGAGTCCAGTTTG -3'

Posted On

2018-06-06