Mutagenetix > Incidental Mutation

Incidental Mutation 'R6328:Pdlim7'

510827

Institutional Source

Beutler Lab

Gene Symbol

Pdlim7

Ensembl Gene

ENSMUSG00000021493

Gene Name

PDZ and LIM domain 7

Synonyms

2410002J21Rik, 1110003B01Rik, Enigma

MMRRC Submission

044482-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.862) question?

Stock #

R6328 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55645300-55661281 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 55655905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120465 (fasta)

Gene Model

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

AlphaFold

Q3TJD7

Predicted Effect

probably benign
Transcript: ENSMUST00000046246

SMART Domains

Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493

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

probably benign
Transcript: ENSMUST00000069929

SMART Domains

Protein: ENSMUSP00000064219
Gene: ENSMUSG00000021493

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069968

SMART Domains

Protein: ENSMUSP00000070153
Gene: ENSMUSG00000021493

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

unknown
Transcript: ENSMUST00000131306
AA Change: R172S

SMART Domains

Protein: ENSMUSP00000119753
Gene: ENSMUSG00000021493
AA Change: R172S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136583

Predicted Effect

probably benign
Transcript: ENSMUST00000155098

SMART Domains

Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493

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: ENSMUST00000153230

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144288

SMART Domains

Protein: ENSMUSP00000121614
Gene: ENSMUSG00000021493

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (57/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Abcb10	G	A	8: 124,688,756 (GRCm39)	R507W	probably damaging	Het
Actg1	T	C	11: 120,238,586 (GRCm39)	D80G	possibly damaging	Het
Actr5	A	G	2: 158,477,264 (GRCm39)	D405G	possibly damaging	Het
Ahnak	C	T	19: 8,984,512 (GRCm39)	T1932I	probably benign	Het
Ankk1	T	A	9: 49,327,371 (GRCm39)	T603S	possibly damaging	Het
Atp13a3	A	T	16: 30,155,053 (GRCm39)	F964I	probably damaging	Het
Atp6v1g3	A	G	1: 138,215,570 (GRCm39)	T77A	probably benign	Het
Bccip	A	G	7: 133,319,503 (GRCm39)	H198R	probably damaging	Het
Bsx	A	T	9: 40,785,519 (GRCm39)	R16W	probably damaging	Het
Ccdc88b	C	T	19: 6,826,406 (GRCm39)	R1103Q	probably damaging	Het
Cd59a	A	C	2: 103,941,103 (GRCm39)	Y27S	probably damaging	Het
Cdk20	A	G	13: 64,584,413 (GRCm39)	H162R	probably damaging	Het
Col6a2	C	T	10: 76,450,212 (GRCm39)	E240K	possibly damaging	Het
Ddr2	A	G	1: 169,814,634 (GRCm39)	V603A	possibly damaging	Het
Dgkz	A	G	2: 91,772,980 (GRCm39)	V359A	probably benign	Het
Dis3l2	T	A	1: 86,782,153 (GRCm39)	S223T	probably benign	Het
Dpysl4	A	G	7: 138,679,734 (GRCm39)	S535G	probably benign	Het
Dsp	A	T	13: 38,380,982 (GRCm39)	K1977*	probably null	Het
Dync2h1	A	T	9: 7,165,717 (GRCm39)	S515T	probably benign	Het
Epg5	A	G	18: 78,072,179 (GRCm39)	E2397G	possibly damaging	Het
Fam83d	G	A	2: 158,627,096 (GRCm39)	G262S	probably damaging	Het
Frmd4a	A	T	2: 4,595,509 (GRCm39)	T477S	probably damaging	Het
Gbp3	A	G	3: 142,274,819 (GRCm39)	E382G	probably benign	Het
Gltp	A	T	5: 114,808,572 (GRCm39)	C157S	possibly damaging	Het
Grb10	A	G	11: 11,887,905 (GRCm39)	S378P	probably damaging	Het
Gulo	G	T	14: 66,240,080 (GRCm39)	T126K	probably damaging	Het
H2-M10.6	T	A	17: 37,124,836 (GRCm39)	M251K	probably damaging	Het
Hecw1	T	C	13: 14,422,205 (GRCm39)	D967G	possibly damaging	Het
Htr3b	A	T	9: 48,858,933 (GRCm39)	D68E	probably damaging	Het
Igkv5-39	G	T	6: 69,877,489 (GRCm39)	S89*	probably null	Het
Kctd4	C	A	14: 76,200,037 (GRCm39)		probably benign	Het
Lmna	T	C	3: 88,393,813 (GRCm39)	Q255R	probably damaging	Het
Lsmem1	A	G	12: 40,230,656 (GRCm39)	I82T	possibly damaging	Het
Lyg2	T	A	1: 37,950,194 (GRCm39)	M45L	probably benign	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Nudt5	A	T	2: 5,869,248 (GRCm39)	K158I	possibly damaging	Het
Nufip1	C	T	14: 76,348,494 (GRCm39)	P41L	possibly damaging	Het
Or4f14b	A	T	2: 111,775,739 (GRCm39)	W21R	probably null	Het
Or52z13	A	T	7: 103,247,073 (GRCm39)	E183D	probably damaging	Het
Pcp2	T	C	8: 3,674,887 (GRCm39)	D22G	probably damaging	Het
Pdk2	G	C	11: 94,930,228 (GRCm39)	N69K	possibly damaging	Het
Ptprc	C	A	1: 138,041,416 (GRCm39)	E148*	probably null	Het
Rassf5	A	T	1: 131,108,405 (GRCm39)	V225E	probably damaging	Het
Rbm6	A	T	9: 107,664,458 (GRCm39)	M725K	probably benign	Het
Scn1a	T	A	2: 66,103,660 (GRCm39)	I1867F	probably damaging	Het
Sdk2	T	A	11: 113,684,581 (GRCm39)	Q1960L	probably damaging	Het
Setx	A	G	2: 29,064,474 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,381,345 (GRCm39)	R496*	probably null	Het
Slco1a1	C	T	6: 141,878,176 (GRCm39)	V222I	probably damaging	Het
Sntg2	A	C	12: 30,308,013 (GRCm39)	L224R	probably damaging	Het
Syt16	C	A	12: 74,313,467 (GRCm39)	C464*	probably null	Het
Tapbpl	T	A	6: 125,201,881 (GRCm39)	S420C	probably benign	Het
Tax1bp1	A	G	6: 52,723,694 (GRCm39)	E528G	probably benign	Het
Tmem168	T	C	6: 13,602,710 (GRCm39)	T219A	probably benign	Het
Zfp180	T	C	7: 23,804,981 (GRCm39)	F467L	probably damaging	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
R5922:Pdlim7	UTSW	13	55,656,768 (GRCm39)	missense	probably damaging	1.00
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'- ACTTGTCAGAGGTCTGCAC -3'
(R):5'- GGTACACTTTTGCACCAAGC -3'

Sequencing Primer
(F):5'- TCTGCACCTGTGAAGGAAAC -3'
(R):5'- GCCTCCCTCAACAAGACGG -3'

Posted On

2018-04-02