Mutagenetix > Incidental Mutations

Incidental Mutation 'R5951:Pdlim2'

470912

Institutional Source

Beutler Lab

Gene Symbol

Pdlim2

Ensembl Gene

ENSMUSG00000022090

Gene Name

PDZ and LIM domain 2

Synonyms

SLIM, 4732462F18Rik, mystique

MMRRC Submission

044141-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70164218-70177681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70167780 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 212 (D212V)

Ref Sequence

ENSEMBL: ENSMUSP00000119222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022681] [ENSMUST00000127836] [ENSMUST00000129174] [ENSMUST00000143393] [ENSMUST00000153735]

Predicted Effect

probably benign
Transcript: ENSMUST00000022681
AA Change: D212V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: D212V

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

unknown
Transcript: ENSMUST00000125300
AA Change: D13V

SMART Domains

Protein: ENSMUSP00000116694
Gene: ENSMUSG00000022090
AA Change: D13V

Domain	Start	End	E-Value	Type
Pfam:DUF4749	7	58	6.4e-13	PFAM
low complexity region	61	73	N/A	INTRINSIC
LIM	84	136	1.25e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127836

SMART Domains

Protein: ENSMUSP00000141050
Gene: ENSMUSG00000022090

Domain	Start	End	E-Value	Type
low complexity region	20	29	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC
LIM	61	113	5.9e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129174

SMART Domains

Protein: ENSMUSP00000139820
Gene: ENSMUSG00000022090

Domain	Start	End	E-Value	Type
low complexity region	20	29	N/A	INTRINSIC
low complexity region	38	50	N/A	INTRINSIC
LIM	61	113	5.9e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141363

Predicted Effect

probably benign
Transcript: ENSMUST00000143393
AA Change: D212V

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119222
Gene: ENSMUSG00000022090
AA Change: D212V

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

probably benign
Transcript: ENSMUST00000153735
AA Change: D212V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: D212V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,799	E180D	probably damaging	Het
Add3	A	G	19: 53,244,289		probably null	Het
Adgrv1	A	T	13: 81,442,501	I4396N	probably damaging	Het
Apc	C	T	18: 34,317,146	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,395,903	C51F	probably damaging	Het
Arid4b	T	C	13: 14,143,063	V177A	possibly damaging	Het
Atp13a1	T	A	8: 69,797,285	I343N	probably damaging	Het
Bcar1	T	C	8: 111,713,400	D654G	probably benign	Het
Brox	T	C	1: 183,282,508	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,319,579	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,140,141	K18Q	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Crot	C	A	5: 8,969,120	E478*	probably null	Het
Dgkq	A	T	5: 108,654,370	M443K	probably damaging	Het
Dhx32	A	T	7: 133,737,328	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,158,422	I93V	probably benign	Het
Ehmt2	C	T	17: 34,899,381	T44I	probably benign	Het
Enc1	T	C	13: 97,245,257	S92P	probably benign	Het
Epha5	T	C	5: 84,331,192		probably benign	Het
Eya4	T	A	10: 23,155,994	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,174	I490F	possibly damaging	Het
Galntl6	A	G	8: 57,962,402	V239A	probably benign	Het
Glg1	T	C	8: 111,165,691	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,837,812		noncoding transcript	Het
Gpd1l	C	T	9: 114,914,405	M142I	probably benign	Het
Helb	A	G	10: 120,091,748	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,824,891	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,967,318	S154N	possibly damaging	Het
Ice2	A	T	9: 69,412,369	T367S	possibly damaging	Het
Iqca	A	T	1: 90,140,097		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Klhl14	T	A	18: 21,651,620	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,330,803	D1447E	probably benign	Het
Larp1	G	T	11: 58,049,939	M630I	probably benign	Het
Lrp2	A	G	2: 69,496,323		probably null	Het
Map4k3	G	T	17: 80,603,998	Q673K	probably benign	Het
Mettl16	A	G	11: 74,795,997	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,785,733		probably benign	Het
Mthfd1l	T	A	10: 4,048,222	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,287	Y144H	probably damaging	Het
Olfr1093	G	T	2: 86,786,227	V166L	probably benign	Het
Olfr38	G	T	6: 42,762,559	C169F	probably damaging	Het
Padi1	T	C	4: 140,814,829	Y594C	probably damaging	Het
Palm3	T	A	8: 84,029,420	D520E	probably benign	Het
Paox	G	A	7: 140,127,654	C130Y	probably damaging	Het
Parpbp	T	A	10: 88,139,907	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,671,680	V1438A	possibly damaging	Het
Pi4ka	A	G	16: 17,303,142	F53L	probably damaging	Het
Pik3c2a	A	T	7: 116,368,184	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,883,056		probably benign	Het
Ppl	A	T	16: 5,088,628	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,464,941	S6L	probably benign	Het
Ptk2	T	G	15: 73,303,833	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,222,183	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,814,327	T110A	probably benign	Het
Rhobtb1	T	A	10: 69,270,255	F217I	probably damaging	Het
Serhl	T	C	15: 83,103,036		probably benign	Het
Sh3tc2	A	G	18: 61,990,007	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,452,715		probably benign	Het
Steap4	T	C	5: 7,975,769	I110T	probably benign	Het
Syde1	C	A	10: 78,589,316	R287L	possibly damaging	Het
Tmem184c	C	T	8: 77,598,662		probably null	Het
Trmt44	C	A	5: 35,572,688		probably benign	Het
Ttbk2	G	T	2: 120,773,283	S256R	probably benign	Het
Ttll6	A	T	11: 96,145,510	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753		probably null	Het
Wsb2	A	T	5: 117,377,535	T402S	probably damaging	Het

Other mutations in Pdlim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02295:Pdlim2	APN	14	70166083	splice site	probably benign
IGL02338:Pdlim2	APN	14	70174457	missense	probably damaging	1.00
IGL03286:Pdlim2	APN	14	70174476	missense	possibly damaging	0.88
PIT4504001:Pdlim2	UTSW	14	70166130	missense	probably benign	0.44
R0751:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R0768:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R0832:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1167:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1207:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1207:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1343:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1412:Pdlim2	UTSW	14	70174324	splice site	probably benign
R1595:Pdlim2	UTSW	14	70164744	missense	probably damaging	1.00
R1689:Pdlim2	UTSW	14	70171239	missense	probably damaging	0.98
R1703:Pdlim2	UTSW	14	70174335	critical splice donor site	probably null
R1843:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1845:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1923:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1924:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R1925:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R2004:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R2005:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R2202:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R2205:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R2237:Pdlim2	UTSW	14	70171249	missense	probably benign	0.05
R2843:Pdlim2	UTSW	14	70166100	missense	probably benign	0.02
R4042:Pdlim2	UTSW	14	70164779	missense	probably damaging	1.00
R4965:Pdlim2	UTSW	14	70168015	unclassified	probably benign
R4971:Pdlim2	UTSW	14	70167759	missense	probably damaging	1.00
R6252:Pdlim2	UTSW	14	70167688	missense	probably damaging	1.00
R7208:Pdlim2	UTSW	14	70174377	missense	probably damaging	1.00
R7597:Pdlim2	UTSW	14	70166196	missense	possibly damaging	0.58
R7627:Pdlim2	UTSW	14	70171475	missense	probably benign
R8342:Pdlim2	UTSW	14	70166114	missense	probably damaging	1.00
R8554:Pdlim2	UTSW	14	70171249	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCATGGATCCTTAAGCTAC -3'
(R):5'- AGGTTCAGGTACTAGCAGGTC -3'

Sequencing Primer
(F):5'- CTGTTTGGCCTCATTCCAGAGAG -3'
(R):5'- CTTGCAGAGTTGGGTGAGCTC -3'

Posted On

2017-03-31