Mutagenetix > Incidental Mutation

Incidental Mutation 'R1607:Pdlim3'

176553

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

MMRRC Submission

039644-MU

Accession Numbers

Genbank: NM_016798; MGI: 1859274

Essential gene?

Possibly essential (E-score: 0.703) question?

Stock #

R1607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45885461-45919548 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45896859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 69 (I69F)

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: I69F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: I69F

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: I69F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211190

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,251,291	P789S	probably damaging	Het
Adam17	T	A	12: 21,334,138		probably null	Het
Afdn	C	T	17: 13,810,501	R224W	probably damaging	Het
Als2	A	G	1: 59,180,147	Y1215H	probably damaging	Het
Anks1b	A	T	10: 90,042,548	D73V	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cenpv	A	T	11: 62,525,176	M249K	probably benign	Het
Ces1d	C	T	8: 93,186,118	V231I	probably benign	Het
Clasp1	G	A	1: 118,504,959	V460I	probably damaging	Het
Cnot10	A	T	9: 114,629,095	Y114*	probably null	Het
Cpb1	G	T	3: 20,263,782	R193S	probably benign	Het
Ctc1	T	C	11: 69,036,150	S1207P	possibly damaging	Het
Cttnbp2	T	A	6: 18,435,433	K142M	probably damaging	Het
Dhrs7b	T	G	11: 60,851,891	D136E	probably benign	Het
Dnah7b	T	C	1: 46,290,646	S3217P	probably damaging	Het
Eif4g3	C	T	4: 138,126,563	S480L	probably benign	Het
Enah	A	T	1: 181,917,197		probably null	Het
Epx	T	C	11: 87,868,712	D517G	probably damaging	Het
Gabrg2	T	A	11: 41,976,663	D43V	probably damaging	Het
Gdf9	A	T	11: 53,437,511	E431D	possibly damaging	Het
Ghr	T	C	15: 3,320,574	D374G	probably damaging	Het
Gin1	A	T	1: 97,786,150	I392F	probably damaging	Het
Greb1l	A	G	18: 10,529,703	E786G	possibly damaging	Het
Grk4	T	C	5: 34,731,538	V342A	probably benign	Het
Hhipl2	A	T	1: 183,423,524	Y135F	possibly damaging	Het
Insig1	C	T	5: 28,071,708	R91W	probably damaging	Het
Kcnf1	C	G	12: 17,175,732	D163H	probably benign	Het
Kif11	A	T	19: 37,387,200	K190*	probably null	Het
Ldb2	T	G	5: 44,473,472	E309A	probably damaging	Het
Lipo4	T	G	19: 33,512,673	D143A	probably damaging	Het
Map3k6	T	G	4: 133,252,473	I1261S	probably damaging	Het
Mtus1	C	T	8: 41,015,409	V27I	possibly damaging	Het
Ndufaf2	C	T	13: 108,091,573	V60I	probably benign	Het
Nup133	A	G	8: 123,949,035	F48L	probably benign	Het
Olfr1131	T	A	2: 87,628,977	N171K	probably benign	Het
Olfr1357	G	T	10: 78,612,140	T167N	probably benign	Het
Olfr1362	A	C	13: 21,611,764	F68L	probably benign	Het
Pcdhb21	A	T	18: 37,515,479	N554Y	probably damaging	Het
Pcx	A	T	19: 4,603,159	D284V	possibly damaging	Het
Pcyt1a	T	C	16: 32,467,119	S203P	probably damaging	Het
Pkp4	T	C	2: 59,322,554	V598A	probably benign	Het
Plbd1	T	C	6: 136,612,306	I509V	probably benign	Het
Polr3b	C	A	10: 84,652,783	T319N	probably benign	Het
Ptprj	T	C	2: 90,463,320	D380G	probably benign	Het
Ralgapa1	T	G	12: 55,741,536	R587S	probably damaging	Het
Scn5a	C	A	9: 119,486,092	R1850L	probably damaging	Het
Ssc5d	C	A	7: 4,944,043	T1132K	probably benign	Het
Stard7	T	A	2: 127,295,486	N285K	possibly damaging	Het
Tcp11l2	C	T	10: 84,613,487	R439W	probably damaging	Het
Tecrl	T	C	5: 83,280,508		probably null	Het
Tep1	A	T	14: 50,824,563	L2570Q	probably null	Het
Tex14	A	T	11: 87,554,928	D191V	probably damaging	Het
Tm7sf2	A	G	19: 6,063,019		probably null	Het
Tmem132e	A	G	11: 82,437,370	K408R	probably benign	Het
Tube1	A	G	10: 39,144,766	D216G	possibly damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Vmn2r82	A	G	10: 79,379,419	H412R	possibly damaging	Het
Wtip	T	C	7: 34,116,595	E352G	probably damaging	Het
Xirp2	T	A	2: 67,510,295	L960*	probably null	Het
Zc3h11a	A	C	1: 133,624,687	S561A	probably benign	Het
Zfhx2	A	T	14: 55,062,985	D2436E	probably damaging	Het
Zfp763	T	C	17: 33,019,907	H88R	probably benign	Het

Other mutations in Pdlim3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Pdlim3	APN	8	45896790	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTTCAAGTCAAGTACCAAAGTTGCCA -3'
(R):5'- GGCAAATACATGAGAAACTCCATCGGA -3'

Sequencing Primer
(F):5'- GTAACACTGAAAACTTTGCCAGG -3'
(R):5'- AGTTCTGGGTCTATGACATTTCTCAC -3'

Posted On

2014-04-24