Mutagenetix > Incidental Mutation

Incidental Mutation 'R7690:Pdlim7'

593353

Institutional Source

Beutler Lab

Gene Symbol

Pdlim7

Ensembl Gene

ENSMUSG00000021493

Gene Name

PDZ and LIM domain 7

Synonyms

2410002J21Rik, 1110003B01Rik, Enigma

MMRRC Submission

045754-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R7690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55645300-55661281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55656744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 70 (I70T)

Ref Sequence

ENSEMBL: ENSMUSP00000047173 (fasta)

Gene Model

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

AlphaFold

Q3TJD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000046246
AA Change: I70T

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

SMART Domains

Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: I70T

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 damaging
Transcript: ENSMUST00000069929
AA Change: I70T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064219
Gene: ENSMUSG00000021493
AA Change: I70T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069968
AA Change: I70T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070153
Gene: ENSMUSG00000021493
AA Change: I70T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131306
AA Change: I70T

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

SMART Domains

Protein: ENSMUSP00000119753
Gene: ENSMUSG00000021493
AA Change: I70T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144288
AA Change: I70T

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

SMART Domains

Protein: ENSMUSP00000121614
Gene: ENSMUSG00000021493
AA Change: I70T

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

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 damaging
Transcript: ENSMUST00000155098
AA Change: I70T

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

SMART Domains

Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: I70T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,353,313 (GRCm39)	T710S	probably benign	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Agap1	T	C	1: 89,770,793 (GRCm39)	S648P	probably benign	Het
Alox5	T	C	6: 116,392,417 (GRCm39)	H368R	probably damaging	Het
Ano2	T	C	6: 125,990,161 (GRCm39)	F761L	probably damaging	Het
Aox4	T	C	1: 58,303,076 (GRCm39)	V1169A	probably damaging	Het
Apbb1ip	T	A	2: 22,706,996 (GRCm39)	M11K	unknown	Het
Arl5a	G	T	2: 52,302,077 (GRCm39)	H112Q	possibly damaging	Het
Ccdc18	C	T	5: 108,376,528 (GRCm39)	T1323I	probably benign	Het
Cmtm5	G	A	14: 55,173,938 (GRCm39)		probably benign	Het
Cul2	T	C	18: 3,419,420 (GRCm39)	Y194H	probably benign	Het
Daglb	T	C	5: 143,479,938 (GRCm39)	I415T	possibly damaging	Het
Ddx28	A	G	8: 106,736,963 (GRCm39)	V365A	probably damaging	Het
Dnah6	T	C	6: 73,146,063 (GRCm39)		probably null	Het
Eppk1	T	A	15: 75,995,946 (GRCm39)	T312S	probably benign	Het
Erich4	C	A	7: 25,314,710 (GRCm39)	V68L	possibly damaging	Het
Fam171a2	G	A	11: 102,328,660 (GRCm39)	P700S	probably benign	Het
Fat3	T	C	9: 15,909,477 (GRCm39)	N2175S	probably damaging	Het
Fcrl6	T	G	1: 172,426,223 (GRCm39)	R191S	probably damaging	Het
Fpgt	A	G	3: 154,793,467 (GRCm39)	S187P	probably damaging	Het
Gapvd1	T	G	2: 34,619,134 (GRCm39)	T80P	possibly damaging	Het
Gclm	A	G	3: 122,039,705 (GRCm39)	N24S	probably damaging	Het
Gdf15	A	G	8: 71,083,997 (GRCm39)	I89T	possibly damaging	Het
Gpn2	A	G	4: 133,318,693 (GRCm39)	E306G	probably damaging	Het
Iars2	A	T	1: 185,053,194 (GRCm39)	L359Q	probably damaging	Het
Kbtbd4	T	G	2: 90,736,240 (GRCm39)	C84G	possibly damaging	Het
Manea	A	G	4: 26,327,910 (GRCm39)	V377A	probably benign	Het
Map4	C	T	9: 109,828,861 (GRCm39)	T82I	probably damaging	Het
Mocos	C	T	18: 24,797,082 (GRCm39)	H81Y	probably damaging	Het
Mtx1	T	A	3: 89,120,088 (GRCm39)	T87S		Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myom2	A	T	8: 15,161,717 (GRCm39)		probably null	Het
Mzt1	C	T	14: 99,278,024 (GRCm39)	C48Y	probably damaging	Het
Nlrp9b	C	A	7: 19,758,295 (GRCm39)	P511T	probably benign	Het
Noc2l	A	G	4: 156,322,088 (GRCm39)	E135G	probably benign	Het
Nova1	G	A	12: 46,767,549 (GRCm39)	P124L	unknown	Het
Pax8	T	A	2: 24,331,682 (GRCm39)	T134S	probably benign	Het
Pde4a	T	A	9: 21,077,300 (GRCm39)	L26Q	probably damaging	Het
Pde6b	G	A	5: 108,567,384 (GRCm39)	E254K	probably damaging	Het
Pinx1	T	A	14: 64,101,660 (GRCm39)		probably null	Het
Pomt2	C	A	12: 87,177,141 (GRCm39)	R352L	probably damaging	Het
Rapgef5	G	A	12: 117,685,105 (GRCm39)	V519I	possibly damaging	Het
Rnps1	A	G	17: 24,637,168 (GRCm39)	E16G	unknown	Het
Slc4a5	T	C	6: 83,262,854 (GRCm39)	F782S	probably damaging	Het
Snap91	A	G	9: 86,707,031 (GRCm39)	V253A	possibly damaging	Het
Syce3	T	C	15: 89,281,544 (GRCm39)	M32V	possibly damaging	Het
Tcaf3	C	A	6: 42,574,069 (GRCm39)	V48L	probably damaging	Het
Tenm4	T	C	7: 96,512,740 (GRCm39)	V1366A	probably benign	Het
Tnxb	G	A	17: 34,908,494 (GRCm39)	M1382I	probably benign	Het
Tnxb	G	A	17: 34,908,501 (GRCm39)	G1385R	probably damaging	Het
Top3a	G	T	11: 60,647,206 (GRCm39)	L238I	probably damaging	Het
Trim9	A	T	12: 70,295,117 (GRCm39)	N742K	probably benign	Het
Trp63	T	A	16: 25,695,483 (GRCm39)	Y482N	unknown	Het
Ttc23	T	G	7: 67,319,918 (GRCm39)	F192V	possibly damaging	Het
Uck1	A	G	2: 32,148,184 (GRCm39)	V180A	probably benign	Het
Vwa5b1	G	A	4: 138,318,244 (GRCm39)	T541I	probably damaging	Het
Zfp456	G	T	13: 67,514,913 (GRCm39)	H264Q	probably damaging	Het
Zfpm2	T	G	15: 40,818,162 (GRCm39)	V165G	possibly damaging	Het
Zup1	C	T	10: 33,806,151 (GRCm39)		probably null	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
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
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'- GTGTGGGCTCTAACCTGAAG -3'

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

Posted On

2019-11-12