Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Pdlim3'

695845

Institutional Source

Beutler Lab

Gene Symbol

Pdlim3

Ensembl Gene

ENSMUSG00000031636

Gene Name

PDZ and LIM domain 3

Synonyms

ALP

MMRRC Submission

Accession Numbers

Genbank: NM_016798; MGI: 1859274

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45885461-45919548 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 45885674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 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

probably benign
Transcript: ENSMUST00000210422

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,245,281	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,949,605	S128P	probably benign	Het
Adam17	C	T	12: 21,351,587	V136I	probably benign	Het
Adam19	A	G	11: 46,127,349	T413A	probably benign	Het
Adam28	T	C	14: 68,629,082	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,419,422	T5211S	probably benign	Het
Adnp2	A	T	18: 80,128,985	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,070	W1082*	probably null	Het
Ap3b2	T	G	7: 81,463,798	M888L	unknown	Het
Arhgap35	C	A	7: 16,561,624	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 80,893,387	D402E	probably benign	Het
Ccdc14	T	C	16: 34,690,748	F31L	possibly damaging	Het
Ccdc173	A	T	2: 69,776,166	I302K	probably benign	Het
Cd5l	T	G	3: 87,367,625	L157R	probably benign	Het
Cdc14a	G	T	3: 116,328,564	D251E	possibly damaging	Het
Chmp2a	T	A	7: 13,032,718	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,641,447		probably null	Het
Ctdsp1	G	T	1: 74,394,967	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,184,856	R40H	probably damaging	Het
Dnph1	A	G	17: 46,498,934	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,345,880	V488D	probably benign	Het
Gcn1l1	C	A	5: 115,604,885	N1538K	probably benign	Het
Gldc	T	A	19: 30,134,286	E500V	probably benign	Het
Hhip	G	A	8: 79,975,114	T597I	probably benign	Het
Hmgn1	A	G	16: 96,127,309		probably null	Het
Ifi205	A	T	1: 174,017,422	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,766,769	M2V	probably benign	Het
Irgm2	T	G	11: 58,220,454	S324A	probably damaging	Het
Jarid2	C	G	13: 44,911,251	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,399	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584	I319M	probably benign	Het
Klhl7	T	C	5: 24,159,467	Y500H	probably damaging	Het
Lats1	C	T	10: 7,702,288	A392V	probably benign	Het
Llgl1	G	T	11: 60,709,576	A584S	probably benign	Het
Macf1	G	T	4: 123,509,893	S560Y	probably damaging	Het
Olfr1206	C	T	2: 88,865,451	P282L	possibly damaging	Het
Olfr250	T	A	9: 38,368,082	C169S	probably damaging	Het
Pde10a	G	A	17: 8,962,959	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,751,807		probably null	Het
Pdhx	G	A	2: 103,022,216	P434L	probably damaging	Het
Pik3c3	T	C	18: 30,294,430		probably null	Het
Prkag1	T	C	15: 98,814,019	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,818,486	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,326,250	S1102P	probably damaging	Het
Scrib	A	G	15: 76,049,259	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,896,069	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,579		probably null	Het
Slc17a8	A	G	10: 89,589,582	V380A	probably damaging	Het
Slc5a4b	G	T	10: 76,081,331	Y290*	probably null	Het
Slco4c1	A	G	1: 96,836,908	F480L	probably damaging	Het
Srcap	T	C	7: 127,521,990	V146A	unknown	Het
Ssc5d	T	A	7: 4,933,433	D559E	probably damaging	Het
Sstr5	A	C	17: 25,491,610	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,235,234	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,376,639		probably benign	Het
Sycp3	T	C	10: 88,463,872		probably null	Het
Syne2	A	T	12: 75,962,575	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,823,873	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,792,506	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,618,393	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,328,568	R802G	probably benign	Het
Trmu	T	C	15: 85,896,895	V360A	probably benign	Het
Tshz2	G	A	2: 169,884,642	C386Y	probably damaging	Het
Ttn	A	T	2: 76,870,427	D61E		Het
Upf1	T	C	8: 70,340,024	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,741,823	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,368,092	V652I	probably benign	Het
Wfdc1	T	C	8: 119,666,563	V8A	probably benign	Het
Xrn1	A	G	9: 95,998,221	Y738C	probably benign	Het
Zfp618	T	G	4: 63,133,274	V764G	probably damaging	Het
Znfx1	A	T	2: 167,056,341	M221K	probably damaging	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
R1607:Pdlim3	UTSW	8	45896859	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
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'- CAGGGATAAATCTCCGGGACAG -3'
(R):5'- CAGAACTGCTTTGCATCCTC -3'

Sequencing Primer
(F):5'- ACAGCATTCCCAGTTAGGTCG -3'
(R):5'- GCATCCTCCAGCTTGTTGC -3'

Posted On

2022-02-07