Mutagenetix > Incidental Mutation

Incidental Mutation 'R4959:Pdlim5'

482160

Institutional Source

Beutler Lab

Gene Symbol

Pdlim5

Ensembl Gene

ENSMUSG00000028273

Gene Name

PDZ and LIM domain 5

Synonyms

Enh, 1110001A05Rik, Enh3, Enh2

MMRRC Submission

042556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141945351-142101457 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 142017740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029941] [ENSMUST00000058626] [ENSMUST00000090134] [ENSMUST00000168967] [ENSMUST00000170361] [ENSMUST00000195975] [ENSMUST00000196220] [ENSMUST00000196908] [ENSMUST00000198381] [ENSMUST00000200043]

AlphaFold

Q8CI51

Predicted Effect

probably benign
Transcript: ENSMUST00000029941

SMART Domains

Protein: ENSMUSP00000029941
Gene: ENSMUSG00000028273

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 benign
Transcript: ENSMUST00000058626

SMART Domains

Protein: ENSMUSP00000059267
Gene: ENSMUSG00000028273

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090134

SMART Domains

Protein: ENSMUSP00000087595
Gene: ENSMUSG00000028273

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	111	118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168967

SMART Domains

Protein: ENSMUSP00000132647
Gene: ENSMUSG00000028273

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	144	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170361

SMART Domains

Protein: ENSMUSP00000128752
Gene: ENSMUSG00000028273

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
Pfam:DUF4749	101	207	2.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195975

SMART Domains

Protein: ENSMUSP00000142737
Gene: ENSMUSG00000028273

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 benign
Transcript: ENSMUST00000196220

SMART Domains

Protein: ENSMUSP00000142460
Gene: ENSMUSG00000028273

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: ENSMUST00000196908

SMART Domains

Protein: ENSMUSP00000143098
Gene: ENSMUSG00000028273

Domain	Start	End	E-Value	Type
PDZ	12	85	5.54e-17	SMART
low complexity region	144	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198381

SMART Domains

Protein: ENSMUSP00000142899
Gene: ENSMUSG00000028273

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

probably benign
Transcript: ENSMUST00000200043

SMART Domains

Protein: ENSMUSP00000143343
Gene: ENSMUSG00000028273

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.6%
20x: 89.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
6820408C15Rik	T	A	2: 152,282,808 (GRCm39)	I221K	possibly damaging	Het
Aadacl3	A	T	4: 144,183,656 (GRCm39)	C136S	probably benign	Het
Abhd16a	T	A	17: 35,321,318 (GRCm39)	S498T	probably benign	Het
Acrv1	G	A	9: 36,605,996 (GRCm39)		probably null	Het
Adamts18	G	A	8: 114,463,357 (GRCm39)	R830*	probably null	Het
Art3	A	G	5: 92,551,478 (GRCm39)	Y279C	probably damaging	Het
Atm	A	T	9: 53,426,601 (GRCm39)	D552E	probably benign	Het
Ccdc154	T	C	17: 25,389,888 (GRCm39)	L508P	probably damaging	Het
Ccser2	A	T	14: 36,662,753 (GRCm39)	S144T	probably benign	Het
Cgn	C	T	3: 94,685,564 (GRCm39)	A320T	probably benign	Het
Cklf	A	G	8: 104,988,184 (GRCm39)	K106E	probably benign	Het
Clec12a	C	A	6: 129,330,628 (GRCm39)	T70K	probably benign	Het
CN725425	G	A	15: 91,129,904 (GRCm39)	A256T	possibly damaging	Het
Crb2	G	T	2: 37,680,482 (GRCm39)	R470L	probably damaging	Het
Csn1s1	T	G	5: 87,821,120 (GRCm39)	S33A	probably benign	Het
D630045J12Rik	C	T	6: 38,125,302 (GRCm39)	V1571M	possibly damaging	Het
Deup1	G	A	9: 15,523,310 (GRCm39)	Q58*	probably null	Het
Dph2	T	A	4: 117,748,527 (GRCm39)	D82V	probably damaging	Het
Dsp	C	T	13: 38,375,686 (GRCm39)	A1157V	probably benign	Het
Evi5l	G	T	8: 4,255,406 (GRCm39)	V477L	probably benign	Het
Fam187b	T	A	7: 30,681,687 (GRCm39)	H131Q	probably damaging	Het
Fam193b	A	G	13: 55,691,097 (GRCm39)	I259T	probably damaging	Het
Fam91a1	A	G	15: 58,303,059 (GRCm39)	T323A	probably benign	Het
Fat4	T	G	3: 39,037,195 (GRCm39)	S3616A	probably benign	Het
Fbxo38	A	T	18: 62,655,578 (GRCm39)	N369K	probably benign	Het
Fitm1	T	A	14: 55,813,831 (GRCm39)		probably null	Het
Fkbp5	T	C	17: 28,647,343 (GRCm39)	E164G	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,211 (GRCm39)	Y310C	possibly damaging	Het
Fryl	A	T	5: 73,192,401 (GRCm39)	M2678K	probably benign	Het
Fsip2	T	C	2: 82,815,169 (GRCm39)	I3634T	probably benign	Het
Gm3233	T	C	10: 77,595,399 (GRCm39)		probably benign	Het
Gzmd	T	G	14: 56,369,955 (GRCm39)	T9P	unknown	Het
Htr2b	A	T	1: 86,027,813 (GRCm39)	I231N	probably damaging	Het
Il2ra	A	G	2: 11,681,664 (GRCm39)	T90A	possibly damaging	Het
Kbtbd2	A	G	6: 56,758,943 (GRCm39)	F60S	probably benign	Het
Kif21b	G	A	1: 136,076,108 (GRCm39)	C299Y	possibly damaging	Het
Lsm5	A	T	6: 56,680,309 (GRCm39)	D44E	probably damaging	Het
Mapk1	T	A	16: 16,836,170 (GRCm39)	M106K	probably damaging	Het
Mpp2	A	G	11: 101,954,117 (GRCm39)	V193A	probably damaging	Het
Muc4	T	C	16: 32,575,437 (GRCm39)	S1398P	possibly damaging	Het
Ndufs2	A	G	1: 171,065,578 (GRCm39)	Y282H	probably damaging	Het
Nes	T	A	3: 87,882,983 (GRCm39)	L414Q	probably damaging	Het
Neurl2	T	A	2: 164,675,122 (GRCm39)		probably null	Het
Ngef	A	G	1: 87,431,070 (GRCm39)	F159S	possibly damaging	Het
Nlrx1	T	C	9: 44,165,448 (GRCm39)	H816R	possibly damaging	Het
Or10v5	A	G	19: 11,806,300 (GRCm39)	L30P	probably benign	Het
Or1e22	A	T	11: 73,376,893 (GRCm39)	Y252*	probably null	Het
Or2f1	T	C	6: 42,721,621 (GRCm39)	S217P	probably damaging	Het
Or4c106	T	C	2: 88,682,516 (GRCm39)	V74A	possibly damaging	Het
Or4f17-ps1	T	A	2: 111,357,969 (GRCm39)	F103L	probably damaging	Het
Or4p7	T	A	2: 88,221,674 (GRCm39)	L28I	probably benign	Het
Or7g35	A	G	9: 19,496,504 (GRCm39)	T224A	probably benign	Het
Pcgf2	A	T	11: 97,582,515 (GRCm39)	Y7N	possibly damaging	Het
Pdzd2	A	G	15: 12,375,734 (GRCm39)	V1467A	probably damaging	Het
Pigp	C	A	16: 94,160,006 (GRCm39)	G134V	probably benign	Het
Pik3c2g	T	C	6: 139,789,657 (GRCm39)	Y385H	possibly damaging	Het
Pnliprp2	G	A	19: 58,754,750 (GRCm39)	E265K	probably benign	Het
Prl3c1	G	T	13: 27,386,471 (GRCm39)		probably null	Het
Ptpn4	A	T	1: 119,692,826 (GRCm39)	Y110*	probably null	Het
Ptprq	C	T	10: 107,522,416 (GRCm39)	V546I	probably damaging	Het
Rd3l	C	T	12: 111,946,578 (GRCm39)		probably null	Het
Rpl37	G	A	15: 5,147,128 (GRCm39)	R56Q	possibly damaging	Het
Rttn	A	T	18: 89,060,292 (GRCm39)	H998L	probably damaging	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Simc1	T	G	13: 54,673,131 (GRCm39)	V493G	possibly damaging	Het
Slc22a14	CTTTCCTGAA	C	9: 119,003,101 (GRCm39)		probably benign	Het
Slc25a46	A	T	18: 31,735,807 (GRCm39)	I144N	possibly damaging	Het
Smtn	A	T	11: 3,477,825 (GRCm39)	M1K	probably null	Het
Snd1	C	A	6: 28,884,250 (GRCm39)	Y766*	probably null	Het
Spata31d1d	C	T	13: 59,875,102 (GRCm39)	G811D	probably damaging	Het
Spta1	A	C	1: 174,074,174 (GRCm39)	D2371A	probably damaging	Het
Stard6	A	C	18: 70,631,631 (GRCm39)	D74A	possibly damaging	Het
Stim2	G	T	5: 54,262,712 (GRCm39)	R318L	probably benign	Het
Sufu	C	T	19: 46,463,991 (GRCm39)	T401I	possibly damaging	Het
Suz12	G	A	11: 79,920,057 (GRCm39)	G539D	probably damaging	Het
Sytl2	C	G	7: 90,025,245 (GRCm39)	S411C	probably damaging	Het
Taf6	G	A	5: 138,181,465 (GRCm39)	Q156*	probably null	Het
Tead4	T	C	6: 128,247,950 (GRCm39)	D29G	probably damaging	Het
Thada	T	C	17: 84,751,611 (GRCm39)	Y455C	probably damaging	Het
Tlr6	G	C	5: 65,111,002 (GRCm39)	T635S	possibly damaging	Het
Tlr9	A	G	9: 106,101,876 (GRCm39)	D389G	probably benign	Het
Tmem54	A	T	4: 129,002,073 (GRCm39)	H40L	probably damaging	Het
Trappc9	G	T	15: 72,808,905 (GRCm39)	N540K	probably damaging	Het
Trbv28	C	T	6: 41,248,788 (GRCm39)	S106F	probably damaging	Het
Trrap	A	T	5: 144,793,770 (GRCm39)	H3384L	probably damaging	Het
Usp16	T	A	16: 87,277,802 (GRCm39)	M684K	probably damaging	Het
Vat1	G	A	11: 101,351,426 (GRCm39)	T305M	probably damaging	Het
Vmn2r85	A	G	10: 130,257,302 (GRCm39)	S544P	probably damaging	Het
Vps8	T	C	16: 21,278,536 (GRCm39)	S267P	probably damaging	Het
Ylpm1	T	A	12: 85,096,719 (GRCm39)	V1242E	probably damaging	Het
Zfp267	C	T	3: 36,218,285 (GRCm39)	R102C	possibly damaging	Het
Zfp322a	T	C	13: 23,541,052 (GRCm39)	Y230C	probably damaging	Het
Zfp352	T	A	4: 90,112,376 (GRCm39)	V172E	probably benign	Het
Zfp936	A	T	7: 42,839,034 (GRCm39)	H167L	probably damaging	Het
Zkscan14	A	G	5: 145,132,302 (GRCm39)	Y410H	probably benign	Het
Zkscan17	A	G	11: 59,394,538 (GRCm39)	M21T	probably damaging	Het
Zswim4	G	T	8: 84,938,852 (GRCm39)	A1010D	probably benign	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
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'- CTTAAGGAGGTGTAGGCATGC -3'
(R):5'- CCAGGGTGACATTAAGCAGC -3'

Sequencing Primer
(F):5'- GTGTAGGCATGCTAAGAACAATTAC -3'
(R):5'- CAGCAAAATGGGTAGGTGGTCC -3'

Posted On

2017-06-29