Mutagenetix > Incidental Mutation

Incidental Mutation 'R5360:Pdlim1'

424329

Institutional Source

Beutler Lab

Gene Symbol

Pdlim1

Ensembl Gene

ENSMUSG00000055044

Gene Name

PDZ and LIM domain 1 (elfin)

Synonyms

CLP36, mClim1

MMRRC Submission

042939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40221173-40271842 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40230549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 213 (S213T)

Ref Sequence

ENSEMBL: ENSMUSP00000064545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068439] [ENSMUST00000182432]

AlphaFold

O70400

Predicted Effect

probably damaging
Transcript: ENSMUST00000068439
AA Change: S213T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
AA Change: S213T

Domain	Start	End	E-Value	Type
PDZ	12	85	3.23e-18	SMART
Pfam:DUF4749	136	234	4.6e-29	PFAM
LIM	257	308	2.31e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182432

SMART Domains

Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044

Domain	Start	End	E-Value	Type
PDZ	12	85	3.23e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182813

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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 the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378 (GRCm38)	L77F	probably damaging	Het
Acsl5	T	A	19: 55,291,160 (GRCm38)	Y443*	probably null	Het
Aox3	C	T	1: 58,146,508 (GRCm38)	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,259,671 (GRCm38)	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,278,869 (GRCm38)		probably null	Het
Brpf3	A	T	17: 28,810,562 (GRCm38)	M499L	probably benign	Het
Cacnb1	A	T	11: 98,018,271 (GRCm38)		probably null	Het
Cep295	A	G	9: 15,326,733 (GRCm38)	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,518,857 (GRCm38)	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,669,203 (GRCm38)	Y2532F	probably damaging	Het
D17Wsu92e	A	T	17: 27,794,046 (GRCm38)	I59N	probably damaging	Het
Dsg1a	A	G	18: 20,340,954 (GRCm38)	D1028G	probably damaging	Het
Fkbpl	G	A	17: 34,645,329 (GRCm38)	A24T	probably benign	Het
Gabra5	C	T	7: 57,490,785 (GRCm38)	G55R	probably damaging	Het
Gdf9	T	A	11: 53,437,207 (GRCm38)	F330Y	probably benign	Het
Gimap8	T	C	6: 48,656,302 (GRCm38)	S352P	probably damaging	Het
Gm4952	A	T	19: 12,623,629 (GRCm38)	H71L	probably benign	Het
Gm6803	A	C	12: 88,018,495 (GRCm38)	L93V	probably benign	Het
Gnaq	G	A	19: 16,133,426 (GRCm38)	R34H	probably benign	Het
Hebp2	T	C	10: 18,544,307 (GRCm38)	D126G	probably benign	Het
Hectd4	A	G	5: 121,315,401 (GRCm38)	D601G	possibly damaging	Het
Hook2	T	C	8: 85,001,404 (GRCm38)	Y577H	probably damaging	Het
Igfals	A	G	17: 24,880,093 (GRCm38)	T53A	probably benign	Het
Igsf9b	A	G	9: 27,311,672 (GRCm38)	D123G	probably damaging	Het
Ikbkap	A	T	4: 56,800,104 (GRCm38)	H7Q	probably benign	Het
Ltbr	G	A	6: 125,312,794 (GRCm38)	R146W	probably damaging	Het
Mdm4	A	T	1: 132,991,658 (GRCm38)	*490K	probably null	Het
Melk	C	T	4: 44,363,730 (GRCm38)	T592M	probably damaging	Het
Neurl2	C	A	2: 164,833,101 (GRCm38)	A114S	probably damaging	Het
Nuggc	A	G	14: 65,638,626 (GRCm38)	T563A	probably damaging	Het
Olfr951	T	G	9: 39,394,402 (GRCm38)	F204V	probably benign	Het
Otx1	C	A	11: 21,997,037 (GRCm38)	A91S	probably damaging	Het
Pitx1	T	C	13: 55,828,478 (GRCm38)	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,879,204 (GRCm38)	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,734,345 (GRCm38)	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,349,146 (GRCm38)	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,016,571 (GRCm38)	R383*	probably null	Het
Prl7a2	C	T	13: 27,659,160 (GRCm38)	R220H	probably benign	Het
R3hdm4	C	T	10: 79,912,458 (GRCm38)	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,389,855 (GRCm38)	V454A	possibly damaging	Het
Robo1	A	G	16: 72,935,777 (GRCm38)	T307A	probably damaging	Het
Slc22a6	T	C	19: 8,619,422 (GRCm38)	L188P	probably damaging	Het
Spag17	A	G	3: 100,109,410 (GRCm38)	N2167S	probably benign	Het
Spag5	G	A	11: 78,314,762 (GRCm38)	E680K	probably damaging	Het
Spata6	A	G	4: 111,822,829 (GRCm38)	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 50,984,632 (GRCm38)	D47G	probably benign	Het
Trp53	T	C	11: 69,588,740 (GRCm38)		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,417,267 (GRCm38)		probably benign	Het
Ttc39b	T	C	4: 83,261,847 (GRCm38)	D103G	probably damaging	Het
Ttn	A	C	2: 76,919,978 (GRCm38)	W3576G	probably benign	Het
Yeats2	T	A	16: 20,154,162 (GRCm38)	M22K	probably damaging	Het

Other mutations in Pdlim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02027:Pdlim1	APN	19	40,243,466 (GRCm38)	missense	probably benign	0.00
IGL02253:Pdlim1	APN	19	40,230,530 (GRCm38)	missense	probably damaging	0.99
IGL02312:Pdlim1	APN	19	40,223,061 (GRCm38)	missense	probably benign	0.00
IGL02584:Pdlim1	APN	19	40,243,400 (GRCm38)	splice site	probably null
R0391:Pdlim1	UTSW	19	40,243,573 (GRCm38)	missense	probably damaging	0.99
R1554:Pdlim1	UTSW	19	40,223,072 (GRCm38)	missense	probably benign	0.19
R1751:Pdlim1	UTSW	19	40,251,904 (GRCm38)	splice site	probably benign
R1972:Pdlim1	UTSW	19	40,223,137 (GRCm38)	missense	probably damaging	0.99
R2900:Pdlim1	UTSW	19	40,223,075 (GRCm38)	missense	probably damaging	1.00
R4709:Pdlim1	UTSW	19	40,222,736 (GRCm38)	missense	probably benign	0.26
R4803:Pdlim1	UTSW	19	40,243,448 (GRCm38)	missense	possibly damaging	0.94
R4818:Pdlim1	UTSW	19	40,223,136 (GRCm38)	missense	probably damaging	0.98
R5833:Pdlim1	UTSW	19	40,230,545 (GRCm38)	missense	probably damaging	1.00
R6547:Pdlim1	UTSW	19	40,223,120 (GRCm38)	missense	probably damaging	0.97
R7699:Pdlim1	UTSW	19	40,249,658 (GRCm38)	missense	probably damaging	0.99
R7700:Pdlim1	UTSW	19	40,249,658 (GRCm38)	missense	probably damaging	0.99
R7756:Pdlim1	UTSW	19	40,243,542 (GRCm38)	missense	probably benign	0.00
R7758:Pdlim1	UTSW	19	40,243,542 (GRCm38)	missense	probably benign	0.00
R7914:Pdlim1	UTSW	19	40,252,001 (GRCm38)	missense	probably damaging	0.98
R8201:Pdlim1	UTSW	19	40,230,514 (GRCm38)	missense	probably benign
R8331:Pdlim1	UTSW	19	40,230,551 (GRCm38)	missense	possibly damaging	0.70
R9698:Pdlim1	UTSW	19	40,230,515 (GRCm38)	missense	probably benign	0.01
R9733:Pdlim1	UTSW	19	40,230,596 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGTAACCTCAGGCTCTGG -3'
(R):5'- CAACATTGTCAGGGGAGTTGG -3'

Sequencing Primer
(F):5'- CTCTGGGGAAGATGGCAAGCTC -3'
(R):5'- TTGGAGACATGGGATAATCACTGTCC -3'

Posted On

2016-08-04