Mutagenetix > Incidental Mutation

Incidental Mutation 'R5922:Pdlim7'

461648

Institutional Source

Beutler Lab

Gene Symbol

Pdlim7

Ensembl Gene

ENSMUSG00000021493

Gene Name

PDZ and LIM domain 7

Synonyms

2410002J21Rik, 1110003B01Rik, Enigma

MMRRC Submission

043240-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R5922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55645300-55661281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55656768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 62 (T62K)

Ref Sequence

ENSEMBL: ENSMUSP00000121614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046246] [ENSMUST00000069929] [ENSMUST00000069968] [ENSMUST00000131306] [ENSMUST00000144288] [ENSMUST00000155098] [ENSMUST00000153426]

AlphaFold

Q3TJD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046246
AA Change: T62K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: T62K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART
low complexity region	209	223	N/A	INTRINSIC
low complexity region	264	273	N/A	INTRINSIC
LIM	281	332	3.69e-18	SMART
LIM	340	391	8.29e-21	SMART
LIM	399	452	2.47e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069929
AA Change: T62K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064219
Gene: ENSMUSG00000021493
AA Change: T62K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069968
AA Change: T62K

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

SMART Domains

Protein: ENSMUSP00000070153
Gene: ENSMUSG00000021493
AA Change: T62K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128911

Predicted Effect

probably damaging
Transcript: ENSMUST00000131306
AA Change: T62K

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

SMART Domains

Protein: ENSMUSP00000119753
Gene: ENSMUSG00000021493
AA Change: T62K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136583

Predicted Effect

probably damaging
Transcript: ENSMUST00000144288
AA Change: T62K

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

SMART Domains

Protein: ENSMUSP00000121614
Gene: ENSMUSG00000021493
AA Change: T62K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153230

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155098
AA Change: T62K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: T62K

Domain	Start	End	E-Value	Type
PDZ	12	85	3.74e-14	SMART
low complexity region	209	223	N/A	INTRINSIC
low complexity region	264	273	N/A	INTRINSIC
LIM	281	332	3.69e-18	SMART
LIM	340	391	8.29e-21	SMART
LIM	399	452	2.47e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184300

Predicted Effect

probably benign
Transcript: ENSMUST00000153426

SMART Domains

Protein: ENSMUSP00000118867
Gene: ENSMUSG00000021493

Domain	Start	End	E-Value	Type
Pfam:PDZ	3	58	1.4e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit heart defects and hemostatic dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atr	A	G	9: 95,785,735 (GRCm39)	D1429G	probably benign	Het
Brinp2	A	T	1: 158,076,925 (GRCm39)	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,974,532 (GRCm39)	S66G	probably damaging	Het
Dnal1	C	A	12: 84,173,746 (GRCm39)	L55M	probably damaging	Het
Dus2	G	A	8: 106,780,037 (GRCm39)	R453Q	possibly damaging	Het
Efcab5	T	C	11: 77,079,570 (GRCm39)	T59A	probably benign	Het
Elmo1	A	G	13: 20,789,339 (GRCm39)	D685G	probably damaging	Het
Ern1	T	C	11: 106,312,556 (GRCm39)	E275G	probably damaging	Het
Etnk2	A	G	1: 133,291,623 (GRCm39)		probably null	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Gjb2	A	G	14: 57,337,755 (GRCm39)	M151T	probably benign	Het
Heatr9	C	T	11: 83,403,193 (GRCm39)		probably null	Het
Herpud2	G	A	9: 25,020,280 (GRCm39)	L359F	probably benign	Het
Hpx	C	T	7: 105,244,831 (GRCm39)	R118H	probably damaging	Het
Hyal2	A	G	9: 107,448,106 (GRCm39)	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,768,206 (GRCm39)	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,497,743 (GRCm39)	I14N	possibly damaging	Het
Myb	T	A	10: 21,028,826 (GRCm39)	I91F	probably damaging	Het
Myh6	C	T	14: 55,183,931 (GRCm39)	D1668N	probably damaging	Het
Noc2l	C	T	4: 156,325,770 (GRCm39)	Q182*	probably null	Het
Nsd1	A	G	13: 55,395,288 (GRCm39)	N1066S	probably benign	Het
Nup98	A	G	7: 101,803,224 (GRCm39)	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,079,659 (GRCm39)	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,273,544 (GRCm39)	A154S	probably benign	Het
Pibf1	A	G	14: 99,374,524 (GRCm39)	D321G	probably benign	Het
Plrg1	T	A	3: 82,964,155 (GRCm39)	N29K	possibly damaging	Het
Scimp	A	C	11: 70,691,642 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,305,651 (GRCm39)	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,879,134 (GRCm39)	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,232,766 (GRCm39)	K224E	probably benign	Het
Spz1	A	T	13: 92,712,106 (GRCm39)	D123E	possibly damaging	Het
St14	A	T	9: 31,041,200 (GRCm39)		probably benign	Het
Ush1c	A	T	7: 45,853,552 (GRCm39)		probably null	Het
Usp54	T	C	14: 20,602,139 (GRCm39)		probably null	Het
Zfhx3	C	T	8: 109,673,330 (GRCm39)	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,189,668 (GRCm39)	N286K	probably benign	Het

Other mutations in Pdlim7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0737:Pdlim7	UTSW	13	55,652,693 (GRCm39)	splice site	probably null
R1518:Pdlim7	UTSW	13	55,656,107 (GRCm39)	nonsense	probably null
R1857:Pdlim7	UTSW	13	55,653,858 (GRCm39)	missense	probably damaging	1.00
R1886:Pdlim7	UTSW	13	55,653,981 (GRCm39)	missense	probably benign	0.34
R1887:Pdlim7	UTSW	13	55,653,981 (GRCm39)	missense	probably benign	0.34
R5139:Pdlim7	UTSW	13	55,654,869 (GRCm39)	missense	probably damaging	1.00
R5367:Pdlim7	UTSW	13	55,653,975 (GRCm39)	missense	probably benign	0.01
R5866:Pdlim7	UTSW	13	55,646,501 (GRCm39)	missense	probably damaging	1.00
R6328:Pdlim7	UTSW	13	55,655,905 (GRCm39)	intron	probably benign
R6787:Pdlim7	UTSW	13	55,656,810 (GRCm39)	missense	probably damaging	1.00
R6980:Pdlim7	UTSW	13	55,656,041 (GRCm39)	missense	probably benign	0.35
R7690:Pdlim7	UTSW	13	55,656,744 (GRCm39)	missense	probably damaging	1.00
R7911:Pdlim7	UTSW	13	55,646,919 (GRCm39)	missense	probably damaging	1.00
R9091:Pdlim7	UTSW	13	55,655,354 (GRCm39)	missense	probably damaging	0.99
R9270:Pdlim7	UTSW	13	55,655,354 (GRCm39)	missense	probably damaging	0.99
X0010:Pdlim7	UTSW	13	55,656,797 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TCTCTCAGCCAGGACATCTC -3'
(R):5'- AGTGTGGGCTCTAACCTGAAG -3'

Sequencing Primer
(F):5'- GGACATCTCCTGTATAACCTACC -3'
(R):5'- CCTGAAGGTGGCTGTTTACCAAC -3'

Posted On

2017-02-28