Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02338:Pdlim2'

288954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pdlim2

Ensembl Gene

ENSMUSG00000022090

Gene Name

PDZ and LIM domain 2

Synonyms

SLIM, 4732462F18Rik, mystique

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

70401667-70415130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70411906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 42 (D42G)

Ref Sequence

ENSEMBL: ENSMUSP00000119222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022681] [ENSMUST00000143393] [ENSMUST00000153735]

AlphaFold

Q8R1G6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022681
AA Change: D42G

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: D42G

Domain	Start	End	E-Value	Type
PDZ	11	84	3.41e-17	SMART
low complexity region	129	144	N/A	INTRINSIC
Pfam:DUF4749	169	256	4.4e-12	PFAM
low complexity region	259	271	N/A	INTRINSIC
LIM	282	334	1.25e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141363

Predicted Effect

probably damaging
Transcript: ENSMUST00000143393
AA Change: D42G

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

SMART Domains

Protein: ENSMUSP00000119222
Gene: ENSMUSG00000022090
AA Change: D42G

Domain	Start	End	E-Value	Type
PDZ	11	84	3.41e-17	SMART
low complexity region	129	144	N/A	INTRINSIC
low complexity region	199	210	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153735
AA Change: D42G

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: D42G

Domain	Start	End	E-Value	Type
PDZ	11	84	3.41e-17	SMART
low complexity region	129	144	N/A	INTRINSIC
low complexity region	199	210	N/A	INTRINSIC
low complexity region	241	250	N/A	INTRINSIC
low complexity region	259	271	N/A	INTRINSIC
LIM	282	334	1.25e-6	SMART

Coding Region Coverage

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 ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display increased IFN-gamma production by Th1 cells and an enhanced inflammatory response to in vivo challenge with heat-killed Listeria monocytogenes. [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
Ahdc1	G	A	4: 132,789,860 (GRCm39)	C367Y	possibly damaging	Het
AI182371	T	A	2: 34,975,728 (GRCm39)	I279L	probably benign	Het
Ambp	A	T	4: 63,061,934 (GRCm39)	C332S	probably damaging	Het
App	T	C	16: 84,970,407 (GRCm39)	T14A	probably benign	Het
Asap1	A	T	15: 63,995,519 (GRCm39)		probably null	Het
Aurka	T	C	2: 172,201,778 (GRCm39)	R242G	probably benign	Het
BC034090	G	A	1: 155,093,217 (GRCm39)	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,119,918 (GRCm39)	D23G	probably damaging	Het
Cabp2	A	C	19: 4,134,154 (GRCm39)	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,542,173 (GRCm39)	S557N	probably benign	Het
Ccdc146	G	T	5: 21,524,604 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,412,615 (GRCm39)	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,783,675 (GRCm39)	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,755,829 (GRCm39)	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,288,859 (GRCm39)	S1133G	possibly damaging	Het
Cspg5	G	A	9: 110,085,335 (GRCm39)	R502H	probably benign	Het
Cyp2g1	A	G	7: 26,514,229 (GRCm39)		probably benign	Het
Dnajc27	A	G	12: 4,146,229 (GRCm39)	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,202,783 (GRCm39)	D715G	probably damaging	Het
Dock1	G	T	7: 134,734,804 (GRCm39)	L1317F	possibly damaging	Het
Fanci	T	A	7: 79,083,279 (GRCm39)	Y727*	probably null	Het
Fbxw20	T	A	9: 109,055,046 (GRCm39)	T168S	probably benign	Het
Folh1	A	T	7: 86,385,723 (GRCm39)		probably benign	Het
Gas7	A	T	11: 67,573,557 (GRCm39)	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,309,987 (GRCm39)	E259G	probably benign	Het
Gm8325	T	C	3: 60,784,805 (GRCm39)		noncoding transcript	Het
Gpr75	A	T	11: 30,841,730 (GRCm39)	T212S	probably benign	Het
Itgb4	A	G	11: 115,898,795 (GRCm39)	T1711A	probably damaging	Het
Ly75	T	C	2: 60,184,796 (GRCm39)	S453G	probably benign	Het
Maneal	A	G	4: 124,754,276 (GRCm39)		probably benign	Het
Marco	A	T	1: 120,422,508 (GRCm39)	I58N	possibly damaging	Het
Mtcl1	A	G	17: 66,686,965 (GRCm39)	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,258,054 (GRCm39)	V56D	probably damaging	Het
Npy1r	G	A	8: 67,156,954 (GRCm39)	V125I	probably damaging	Het
Or1j19	C	T	2: 36,676,557 (GRCm39)	Q7*	probably null	Het
Or52n20	T	C	7: 104,320,888 (GRCm39)		probably benign	Het
Or7g25	A	G	9: 19,159,960 (GRCm39)	L245P	probably damaging	Het
Osmr	A	T	15: 6,867,210 (GRCm39)	L362*	probably null	Het
Plcb4	T	A	2: 135,842,100 (GRCm39)	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,104,047 (GRCm39)	M1175K	probably benign	Het
Pzp	T	A	6: 128,463,133 (GRCm39)	N1423I	probably benign	Het
Retnla	G	A	16: 48,664,561 (GRCm39)	C105Y	probably damaging	Het
Samd8	T	A	14: 21,825,544 (GRCm39)	S167T	possibly damaging	Het
Scg2	A	G	1: 79,414,210 (GRCm39)	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,939,941 (GRCm39)	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,152,455 (GRCm39)	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,258,338 (GRCm39)	T500A	probably damaging	Het
Slc44a4	G	T	17: 35,142,786 (GRCm39)	G396V	possibly damaging	Het
Smarca5	A	G	8: 81,446,199 (GRCm39)		probably benign	Het
St8sia6	T	A	2: 13,798,156 (GRCm39)	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,069,337 (GRCm39)		noncoding transcript	Het
Stn1	T	C	19: 47,502,329 (GRCm39)	Y235C	probably damaging	Het
Tbx15	A	G	3: 99,259,800 (GRCm39)	Y557C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490 (GRCm39)		probably null	Het
Thsd7b	G	T	1: 129,523,508 (GRCm39)	V181L	probably damaging	Het
Tmpo	G	A	10: 90,999,104 (GRCm39)	R228C	probably benign	Het
Trpm4	T	G	7: 44,976,422 (GRCm39)	R51S	probably damaging	Het
Vmn1r91	A	T	7: 19,835,671 (GRCm39)	T197S	probably damaging	Het
Vmn2r-ps158	T	C	7: 42,697,160 (GRCm39)	I739T	probably damaging	Het
Xrn1	A	G	9: 95,859,880 (GRCm39)	D424G	probably benign	Het
Yap1	A	G	9: 7,962,282 (GRCm39)		probably null	Het
Zer1	T	C	2: 30,003,405 (GRCm39)	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292 (GRCm39)	I753F	possibly damaging	Het

Other mutations in Pdlim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02295:Pdlim2	APN	14	70,403,532 (GRCm39)	splice site	probably benign
IGL03286:Pdlim2	APN	14	70,411,925 (GRCm39)	missense	possibly damaging	0.88
PIT4504001:Pdlim2	UTSW	14	70,403,579 (GRCm39)	missense	probably benign	0.44
R0751:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R0768:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R0832:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1167:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1207:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1207:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1343:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1412:Pdlim2	UTSW	14	70,411,773 (GRCm39)	splice site	probably benign
R1595:Pdlim2	UTSW	14	70,402,193 (GRCm39)	missense	probably damaging	1.00
R1689:Pdlim2	UTSW	14	70,408,688 (GRCm39)	missense	probably damaging	0.98
R1703:Pdlim2	UTSW	14	70,411,784 (GRCm39)	critical splice donor site	probably null
R1843:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1845:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1923:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1924:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R1925:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R2004:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R2005:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R2202:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R2205:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R2237:Pdlim2	UTSW	14	70,408,698 (GRCm39)	missense	probably benign	0.05
R2843:Pdlim2	UTSW	14	70,403,549 (GRCm39)	missense	probably benign	0.02
R4042:Pdlim2	UTSW	14	70,402,228 (GRCm39)	missense	probably damaging	1.00
R4965:Pdlim2	UTSW	14	70,405,464 (GRCm39)	unclassified	probably benign
R4971:Pdlim2	UTSW	14	70,405,208 (GRCm39)	missense	probably damaging	1.00
R5951:Pdlim2	UTSW	14	70,405,229 (GRCm39)	missense	probably benign	0.06
R6252:Pdlim2	UTSW	14	70,405,137 (GRCm39)	missense	probably damaging	1.00
R7208:Pdlim2	UTSW	14	70,411,826 (GRCm39)	missense	probably damaging	1.00
R7597:Pdlim2	UTSW	14	70,403,645 (GRCm39)	missense	possibly damaging	0.58
R7627:Pdlim2	UTSW	14	70,408,924 (GRCm39)	missense	probably benign
R8342:Pdlim2	UTSW	14	70,403,563 (GRCm39)	missense	probably damaging	1.00
R8554:Pdlim2	UTSW	14	70,408,698 (GRCm39)	missense	probably benign
R9361:Pdlim2	UTSW	14	70,402,190 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16