Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Pdlim5'

213515

Institutional Source

Beutler Lab

Gene Symbol

Pdlim5

Ensembl Gene

ENSMUSG00000028273

Gene Name

PDZ and LIM domain 5

Synonyms

Enh, 1110001A05Rik, Enh3, Enh2

MMRRC Submission

039955-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141945351-142101457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141950742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 557 (R557L)

Ref Sequence

ENSEMBL: ENSMUSP00000142737 (fasta)

Gene Model

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

AlphaFold

Q8CI51

Predicted Effect

probably benign
Transcript: ENSMUST00000029941
AA Change: R534L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273
AA Change: R534L

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

possibly damaging
Transcript: ENSMUST00000195975
AA Change: R557L

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273
AA Change: R557L

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

noncoding transcript
Transcript: ENSMUST00000196050

Predicted Effect

probably benign
Transcript: ENSMUST00000196220
AA Change: R517L

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273
AA Change: R517L

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 benign
Transcript: ENSMUST00000198381
AA Change: R425L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273
AA Change: R425L

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: R469L

SMART Domains

Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273
AA Change: R469L

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: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Col3a1	C	T	1: 45,373,453 (GRCm39)		probably benign	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,376,884 (GRCm39)	D742G	probably damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,805,030 (GRCm39)	*105W	probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Spata18	G	A	5: 73,834,307 (GRCm39)	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Top1	A	T	2: 160,512,042 (GRCm39)	K27N	unknown	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	possibly 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
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
R7334:Pdlim5	UTSW	3	141,950,678 (GRCm39)	missense	probably damaging	1.00
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'- AGGAAATCCTGACCAAGCTG -3'

Sequencing Primer
(F):5'- GCACCCCGTAACAGAGTTCTTC -3'
(R):5'- AAGCTGCCCAACCCCTGG -3'

Posted On

2014-07-14