Mutagenetix > Incidental Mutation

Incidental Mutation 'R5641:Pdlim3'

440673

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R5641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46338498-46372585 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 46368300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148113 (fasta)

Gene Model

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

AlphaFold

O70209

Predicted Effect

probably null
Transcript: ENSMUST00000034053

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636

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

noncoding transcript
Transcript: ENSMUST00000209216

Predicted Effect

probably null
Transcript: ENSMUST00000210422

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,289,877 (GRCm39)	M1398L	probably benign	Het
Acad12	A	G	5: 121,742,084 (GRCm39)		probably benign	Het
Aldh1a7	T	C	19: 20,693,293 (GRCm39)	I209V	probably benign	Het
Alkal2	G	A	12: 30,937,264 (GRCm39)		probably null	Het
Aqr	A	G	2: 113,979,515 (GRCm39)	F307L	probably damaging	Het
Atp2a2	A	G	5: 122,595,639 (GRCm39)	L932P	probably damaging	Het
Atxn7	T	C	14: 14,013,638 (GRCm38)	M113T	probably damaging	Het
Blzf1	T	A	1: 164,134,038 (GRCm39)	M4L	probably benign	Het
Brca2	C	A	5: 150,480,364 (GRCm39)	S2711R	probably damaging	Het
Bzw1	A	T	1: 58,436,883 (GRCm39)	Q70L	probably damaging	Het
Cd34	T	A	1: 194,630,276 (GRCm39)	I70N	probably benign	Het
Chac1	A	G	2: 119,181,999 (GRCm39)	Y39C	probably damaging	Het
Col6a2	G	C	10: 76,449,112 (GRCm39)	P275A	probably damaging	Het
Crb1	T	A	1: 139,176,627 (GRCm39)	N452I	probably damaging	Het
Ctrc	T	C	4: 141,566,094 (GRCm39)	N188S	probably damaging	Het
Dnah7b	G	A	1: 46,307,924 (GRCm39)		probably null	Het
Etl4	GGGGAAGAACCGG	GGG	2: 20,811,273 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,576,081 (GRCm39)		probably null	Het
Gm5616	T	A	9: 48,361,716 (GRCm39)		noncoding transcript	Het
Gm7535	T	C	17: 18,131,788 (GRCm39)		probably benign	Het
Hnrnpr	T	C	4: 136,059,798 (GRCm39)	S200P	probably damaging	Het
Ighg2b	T	C	12: 113,270,767 (GRCm39)	N121S	unknown	Het
Il21	T	A	3: 37,281,917 (GRCm39)	K76*	probably null	Het
Jup	T	A	11: 100,267,632 (GRCm39)	T564S	possibly damaging	Het
Kcns2	G	C	15: 34,839,199 (GRCm39)	R187S	possibly damaging	Het
Klhl18	G	A	9: 110,275,896 (GRCm39)	T84M	probably damaging	Het
Mtor	T	A	4: 148,630,882 (GRCm39)	L2280M	probably damaging	Het
Ncoa6	A	G	2: 155,263,756 (GRCm39)	I226T	probably benign	Het
Nipbl	A	T	15: 8,396,196 (GRCm39)	Y126N	possibly damaging	Het
Nlrp4a	T	A	7: 26,149,589 (GRCm39)	C399S	probably damaging	Het
Nphp3	A	G	9: 103,913,352 (GRCm39)	K54E	probably damaging	Het
Nsun2	T	A	13: 69,771,368 (GRCm39)	V326E	probably benign	Het
Oosp3	T	C	19: 11,674,537 (GRCm39)		probably null	Het
Or4k15b	A	G	14: 50,272,746 (GRCm39)	I38T	probably benign	Het
Pcdhga9	T	C	18: 37,871,301 (GRCm39)	S377P	probably damaging	Het
Pla2r1	A	T	2: 60,345,328 (GRCm39)	W343R	probably damaging	Het
Prox2	A	G	12: 85,134,721 (GRCm39)	V520A	probably benign	Het
Rfx3	T	C	19: 27,771,008 (GRCm39)		probably null	Het
Rif1	A	C	2: 52,011,170 (GRCm39)	R2412S	possibly damaging	Het
Rreb1	T	C	13: 38,131,397 (GRCm39)	L1517P	probably benign	Het
Rxfp1	T	C	3: 79,594,199 (GRCm39)	N65S	probably damaging	Het
Sbf2	T	C	7: 110,038,108 (GRCm39)	E399G	probably damaging	Het
Slc36a4	A	C	9: 15,640,098 (GRCm39)		probably null	Het
Slco1a1	A	T	6: 141,885,695 (GRCm39)	M110K	probably damaging	Het
Stat5a	T	A	11: 100,767,634 (GRCm39)	C401S	probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Tmem150c	T	C	5: 100,231,523 (GRCm39)	T151A	probably damaging	Het
Ube4a	A	T	9: 44,862,179 (GRCm39)	M173K	probably damaging	Het
Vmn1r188	A	T	13: 22,272,342 (GRCm39)	S99C	probably damaging	Het
Vmn2r70	C	T	7: 85,208,572 (GRCm39)	C635Y	probably damaging	Het
Zfp644	T	C	5: 106,767,461 (GRCm39)	K24E	probably 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
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
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'- GGCTCCTGATGATGTGTCAC -3'
(R):5'- CTCCCCAAGGTTGCTAATACTC -3'

Sequencing Primer
(F):5'- GATGATGTGTCACCAGCTATATTTG -3'
(R):5'- TCCCCAAGGTTGCTAATACTCTAAGG -3'

Posted On

2016-11-08