Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Pdlim5'

569350

Institutional Source

Beutler Lab

Gene Symbol

Pdlim5

Ensembl Gene

ENSMUSG00000028273

Gene Name

PDZ and LIM domain 5

Synonyms

Enh, 1110001A05Rik, Enh3, Enh2

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141945351-142101457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141950678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 578 (H578Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029941] [ENSMUST00000195975] [ENSMUST00000196220] [ENSMUST00000198381] [ENSMUST00000200043]

AlphaFold

Q8CI51

Predicted Effect

probably damaging
Transcript: ENSMUST00000029941
AA Change: H555Q

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

SMART Domains

Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: H555Q

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	144	171	N/A	INTRINSIC
Pfam:DUF4749	212	305	1.3e-9	PFAM
low complexity region	310	339	N/A	INTRINSIC
LIM	414	465	3.17e-17	SMART
LIM	473	524	4.62e-19	SMART
LIM	532	585	1.79e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000195975
AA Change: H578Q

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

SMART Domains

Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: H578Q

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	237	246	N/A	INTRINSIC
low complexity region	266	283	N/A	INTRINSIC
low complexity region	316	331	N/A	INTRINSIC
low complexity region	333	362	N/A	INTRINSIC
LIM	437	488	3.17e-17	SMART
LIM	496	547	4.62e-19	SMART
LIM	555	608	1.79e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000196220
AA Change: H538Q

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

SMART Domains

Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: H538Q

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	226	243	N/A	INTRINSIC
low complexity region	276	291	N/A	INTRINSIC
low complexity region	293	322	N/A	INTRINSIC
LIM	397	448	3.17e-17	SMART
LIM	456	507	4.62e-19	SMART
LIM	515	568	1.79e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197808

Predicted Effect

probably damaging
Transcript: ENSMUST00000198381
AA Change: H446Q

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

SMART Domains

Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: H446Q

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	201	230	N/A	INTRINSIC
LIM	305	356	3.17e-17	SMART
LIM	364	415	4.62e-19	SMART
LIM	423	476	1.79e-16	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000200043
AA Change: H490Q

SMART Domains

Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: H490Q

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	228	243	N/A	INTRINSIC
low complexity region	245	274	N/A	INTRINSIC
LIM	349	400	3.17e-17	SMART
LIM	408	459	4.62e-19	SMART
LIM	467	520	1.79e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200650

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cardiac muscle contractility, wider Z-lines, and dilated cardiomyopathy. Mice heterozygous for a gene trap allele exhibit impaired response to methamphetamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,380 (GRCm39)	C184S	probably damaging	Het
Acadm	G	T	3: 153,644,698 (GRCm39)	S9*	probably null	Het
Acot10	C	T	15: 20,665,629 (GRCm39)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,568,903 (GRCm39)	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,539,696 (GRCm39)	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,599,075 (GRCm39)	V162E	probably damaging	Het
Alms1	A	G	6: 85,618,432 (GRCm39)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,254,685 (GRCm39)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,079,007 (GRCm39)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,761,654 (GRCm39)	D34E	probably damaging	Het
Cacfd1	C	T	2: 26,905,558 (GRCm39)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,597,596 (GRCm39)	S345I	probably benign	Het
Cibar2	T	C	8: 120,901,589 (GRCm39)	T39A	probably damaging	Het
Clca3b	G	A	3: 144,542,417 (GRCm39)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,677,323 (GRCm39)	V251I	probably benign	Het
Dip2a	A	G	10: 76,110,080 (GRCm39)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,173,780 (GRCm39)	L27P	probably damaging	Het
Dock7	A	G	4: 98,864,180 (GRCm39)	V1288A	unknown	Het
Elmod1	A	T	9: 53,841,508 (GRCm39)		probably null	Het
Epb41l5	T	G	1: 119,551,679 (GRCm39)	K102T	probably damaging	Het
Fermt3	T	C	19: 6,980,406 (GRCm39)	I358V	probably benign	Het
Frmd3	A	G	4: 74,079,955 (GRCm39)	I316V	probably benign	Het
Fryl	T	C	5: 73,204,839 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,702,356 (GRCm39)	H204L	possibly damaging	Het
Hmcn2	G	A	2: 31,325,806 (GRCm39)	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,343,147 (GRCm39)	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,737,108 (GRCm39)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,511 (GRCm39)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,293,235 (GRCm39)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,011,529 (GRCm39)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,356,809 (GRCm39)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,311,838 (GRCm39)	I524V	probably benign	Het
Mta1	T	C	12: 113,090,418 (GRCm39)	S175P	possibly damaging	Het
Myo7a	C	T	7: 97,728,573 (GRCm39)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,524 (GRCm39)	Y52F	probably damaging	Het
Nherf1	C	T	11: 115,054,593 (GRCm39)	A81V	possibly damaging	Het
Nomo1	T	C	7: 45,732,692 (GRCm39)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,620,090 (GRCm39)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,970 (GRCm39)	L363S	probably benign	Het
Or4n4	C	A	14: 50,519,036 (GRCm39)	V225F	probably benign	Het
Or8b12b	A	T	9: 37,684,293 (GRCm39)	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,321,886 (GRCm39)	M300T	possibly damaging	Het
Parpbp	T	A	10: 87,947,617 (GRCm39)	N339I	probably damaging	Het
Pear1	T	C	3: 87,657,532 (GRCm39)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,358,286 (GRCm39)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,549,681 (GRCm39)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 28,992,687 (GRCm39)	S130P	probably damaging	Het
Prss12	A	C	3: 123,280,780 (GRCm39)	L488F	probably benign	Het
Psd3	C	T	8: 68,361,357 (GRCm39)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,602,631 (GRCm39)	T364A	probably benign	Het
Shcbp1	A	T	8: 4,791,876 (GRCm39)	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,804,310 (GRCm39)	F200C	probably damaging	Het
Slx1b	G	T	7: 126,291,699 (GRCm39)	R122S	probably damaging	Het
Spata31f1e	G	A	4: 42,793,856 (GRCm39)	T92I	possibly damaging	Het
Spidr	A	G	16: 15,932,689 (GRCm39)		probably null	Het
St18	G	A	1: 6,872,783 (GRCm39)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,204,048 (GRCm39)	I46T	probably damaging	Het
Syne1	C	T	10: 5,007,886 (GRCm39)	D113N	probably damaging	Het
Tg	G	A	15: 66,597,121 (GRCm39)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,123,012 (GRCm39)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,553,283 (GRCm39)	R1120H	possibly damaging	Het
Tinag	A	T	9: 76,908,931 (GRCm39)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,200,510 (GRCm39)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,328,017 (GRCm39)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Txndc11	A	G	16: 10,946,425 (GRCm39)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,553,742 (GRCm39)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,603,753 (GRCm39)		probably null	Het
Vmn1r58	T	A	7: 5,414,066 (GRCm39)	M55L	probably benign	Het
Vnn1	T	A	10: 23,776,658 (GRCm39)	S336R	probably benign	Het
Wwc2	T	C	8: 48,322,829 (GRCm39)	Y424C	unknown	Het
Zfp507	T	C	7: 35,475,505 (GRCm39)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,150,681 (GRCm39)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,448,444 (GRCm39)	C371S	probably damaging	Het

Other mutations in Pdlim5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:Pdlim5	APN	3	142,058,548 (GRCm39)	missense	probably damaging	1.00
R1868:Pdlim5	UTSW	3	142,012,060 (GRCm39)	critical splice acceptor site	probably null
R1937:Pdlim5	UTSW	3	141,950,742 (GRCm39)	missense	possibly damaging	0.46
R3000:Pdlim5	UTSW	3	142,017,892 (GRCm39)	missense	probably damaging	1.00
R4477:Pdlim5	UTSW	3	141,964,978 (GRCm39)	missense	probably benign	0.09
R4959:Pdlim5	UTSW	3	142,017,740 (GRCm39)	intron	probably benign
R4973:Pdlim5	UTSW	3	142,017,740 (GRCm39)	intron	probably benign
R5135:Pdlim5	UTSW	3	142,010,126 (GRCm39)	missense	probably benign	0.34
R5393:Pdlim5	UTSW	3	141,964,947 (GRCm39)	missense	probably damaging	1.00
R5445:Pdlim5	UTSW	3	142,058,495 (GRCm39)	missense	probably null	1.00
R5707:Pdlim5	UTSW	3	142,010,060 (GRCm39)	missense	probably damaging	1.00
R6154:Pdlim5	UTSW	3	141,983,674 (GRCm39)	missense	possibly damaging	0.68
R6269:Pdlim5	UTSW	3	142,018,086 (GRCm39)	missense	possibly damaging	0.57
R6395:Pdlim5	UTSW	3	142,020,183 (GRCm39)	missense	probably damaging	1.00
R6600:Pdlim5	UTSW	3	141,965,039 (GRCm39)	missense	probably damaging	1.00
R6911:Pdlim5	UTSW	3	142,010,076 (GRCm39)	missense	probably damaging	0.98
R7135:Pdlim5	UTSW	3	142,017,683 (GRCm39)	splice site	probably null
R7283:Pdlim5	UTSW	3	142,017,741 (GRCm39)	critical splice acceptor site	probably null
R7660:Pdlim5	UTSW	3	141,964,946 (GRCm39)	missense	probably damaging	1.00
R7687:Pdlim5	UTSW	3	141,983,608 (GRCm39)	missense	probably benign	0.02
R7696:Pdlim5	UTSW	3	141,983,623 (GRCm39)	missense	probably benign	0.08
R7779:Pdlim5	UTSW	3	141,948,447 (GRCm39)	missense	probably benign	0.27
R7904:Pdlim5	UTSW	3	142,018,154 (GRCm39)	missense	probably damaging	1.00
R8171:Pdlim5	UTSW	3	142,017,948 (GRCm39)	missense	probably benign
R8913:Pdlim5	UTSW	3	141,950,666 (GRCm39)	missense	probably damaging	1.00
R9082:Pdlim5	UTSW	3	142,009,163 (GRCm39)	missense	possibly damaging	0.52
R9087:Pdlim5	UTSW	3	142,058,594 (GRCm39)	missense	possibly damaging	0.92
R9103:Pdlim5	UTSW	3	142,010,174 (GRCm39)	missense	possibly damaging	0.80
R9320:Pdlim5	UTSW	3	141,953,109 (GRCm39)	missense	probably damaging	1.00
R9515:Pdlim5	UTSW	3	142,010,111 (GRCm39)	missense	probably damaging	1.00
R9664:Pdlim5	UTSW	3	142,018,058 (GRCm39)	missense	probably benign	0.01
R9711:Pdlim5	UTSW	3	141,948,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCTGTTTATTCCCATTAAGCAC -3'
(R):5'- CTCATTTAACTTCCAGCGTACAG -3'

Sequencing Primer
(F):5'- CTGTTTATTCCCATTAAGCACTAAGC -3'
(R):5'- AGTTTCCTGTGACCTGCAG -3'

Posted On

2019-09-13