Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Pdlim7'

429432

Institutional Source

Beutler Lab

Gene Symbol

Pdlim7

Ensembl Gene

ENSMUSG00000021493

Gene Name

PDZ and LIM domain 7

Synonyms

2410002J21Rik, 1110003B01Rik, Enigma

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55645300-55661281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 55653975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 214 (T214S)

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
AA Change: T214S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047173
Gene: ENSMUSG00000021493
AA Change: T214S

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

probably benign
Transcript: ENSMUST00000131306

SMART Domains

Protein: ENSMUSP00000119753
Gene: ENSMUSG00000021493

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153230

Predicted Effect

probably benign
Transcript: ENSMUST00000155098
AA Change: T214S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120465
Gene: ENSMUSG00000021493
AA Change: T214S

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

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

0.0851

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Adam11	A	G	11: 102,664,479 (GRCm39)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,250 (GRCm39)	Y90D	possibly damaging	Het
Depdc1a	G	A	3: 159,229,591 (GRCm39)		probably null	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fads2	A	G	19: 10,041,649 (GRCm39)	L438P	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,088,035 (GRCm39)	S174R	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,635,914 (GRCm39)	D94G	probably damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	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
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
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'- GCATACAGGAGTCTTGCCGTTG -3'
(R):5'- AGATCTTACAGCCAGGTGCC -3'

Sequencing Primer
(F):5'- AGTCTTGCCGTTGTTGCTGC -3'
(R):5'- TGCCCAGGACAGAAGCC -3'

Posted On

2016-09-06