Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Pdlim2'

101189

Institutional Source

Beutler Lab

Gene Symbol

Pdlim2

Ensembl Gene

ENSMUSG00000022090

Gene Name

PDZ and LIM domain 2

Synonyms

SLIM, 4732462F18Rik, mystique

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1167 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

70401667-70415130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70402228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 296 (R296H)

Ref Sequence

ENSEMBL: ENSMUSP00000116200 (fasta)

Gene Model

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

AlphaFold

Q8R1G6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022681
AA Change: R296H

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

SMART Domains

Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: R296H

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

unknown
Transcript: ENSMUST00000125300
AA Change: R97H

SMART Domains

Protein: ENSMUSP00000116694
Gene: ENSMUSG00000022090
AA Change: R97H

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 damaging
Transcript: ENSMUST00000127836
AA Change: R75H

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

SMART Domains

Protein: ENSMUSP00000141050
Gene: ENSMUSG00000022090
AA Change: R75H

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 damaging
Transcript: ENSMUST00000129174
AA Change: R75H

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

SMART Domains

Protein: ENSMUSP00000139820
Gene: ENSMUSG00000022090
AA Change: R75H

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: ENSMUST00000141363

Predicted Effect

probably benign
Transcript: ENSMUST00000143393

SMART Domains

Protein: ENSMUSP00000119222
Gene: ENSMUSG00000022090

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 damaging
Transcript: ENSMUST00000153735
AA Change: R296H

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

SMART Domains

Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: R296H

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

0.8007

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,643,003 (GRCm39)	D315V	probably damaging	Het
Acr	T	C	15: 89,458,177 (GRCm39)	I286T	probably damaging	Het
Adnp	A	G	2: 168,026,420 (GRCm39)	S292P	probably benign	Het
Apol6	T	A	15: 76,931,308 (GRCm39)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,065,264 (GRCm39)		probably null	Het
Bfar	A	G	16: 13,516,758 (GRCm39)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,898,463 (GRCm39)	S470C	probably damaging	Het
Cep135	A	G	5: 76,772,484 (GRCm39)	E623G	probably damaging	Het
Clcn3	A	G	8: 61,375,822 (GRCm39)		probably null	Het
Clptm1	A	T	7: 19,368,136 (GRCm39)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,561,312 (GRCm39)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,553,701 (GRCm39)		probably null	Het
Dst	A	G	1: 34,262,939 (GRCm39)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,245,795 (GRCm39)	T238A	probably benign	Het
Elmo1	T	C	13: 20,369,625 (GRCm39)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,606,079 (GRCm39)	S225P	possibly damaging	Het
Fem1al	C	T	11: 29,773,567 (GRCm39)	R630H	probably damaging	Het
Fes	A	T	7: 80,032,857 (GRCm39)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,249,892 (GRCm39)	N544K	probably damaging	Het
Gga1	C	G	15: 78,772,370 (GRCm39)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm4884	A	T	7: 40,693,336 (GRCm39)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,727,581 (GRCm39)		probably benign	Het
Ift140	T	G	17: 25,254,719 (GRCm39)	S131A	probably benign	Het
Ipo4	A	G	14: 55,872,477 (GRCm39)	L88P	probably damaging	Het
Itgal	G	A	7: 126,900,111 (GRCm39)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,472,259 (GRCm39)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,285,337 (GRCm39)	M521L	probably benign	Het
Myocd	G	T	11: 65,087,203 (GRCm39)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,696,302 (GRCm39)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,341,719 (GRCm39)	D2011G	possibly damaging	Het
Ola1	A	G	2: 72,927,538 (GRCm39)	V347A	probably damaging	Het
Or13p5	C	A	4: 118,591,829 (GRCm39)	F34L	possibly damaging	Het
Or6c75	G	A	10: 129,337,019 (GRCm39)	V89I	probably benign	Het
Or8u10	A	G	2: 85,915,635 (GRCm39)	V162A	probably benign	Het
Oxct2b	A	G	4: 123,011,378 (GRCm39)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,022,552 (GRCm39)	R312G	probably damaging	Het
Pbrm1	A	G	14: 30,772,099 (GRCm39)	N398D	probably damaging	Het
Pdc	T	C	1: 150,208,996 (GRCm39)	Y160H	probably damaging	Het
Pop4	A	T	7: 37,962,693 (GRCm39)	D190E	probably benign	Het
Prb1c	G	A	6: 132,338,553 (GRCm39)	P222S	unknown	Het
R3hdm4	A	G	10: 79,747,907 (GRCm39)		probably null	Het
Rab1a	C	A	11: 20,173,172 (GRCm39)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,247,501 (GRCm39)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,252,159 (GRCm39)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,243,458 (GRCm39)	T270M	probably damaging	Het
Rho	A	G	6: 115,912,384 (GRCm39)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,366,947 (GRCm39)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,335,203 (GRCm39)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,833,450 (GRCm39)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,674,999 (GRCm39)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 109,963,756 (GRCm39)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,900,451 (GRCm39)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,058,918 (GRCm39)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,423,791 (GRCm39)	E40G	probably benign	Het
Slc8a2	A	G	7: 15,891,312 (GRCm39)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,982,270 (GRCm39)	Q384L	probably damaging	Het
Steap4	A	C	5: 8,026,520 (GRCm39)	K161T	probably benign	Het
Taf10	T	C	7: 105,392,438 (GRCm39)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,845,455 (GRCm39)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,755,511 (GRCm39)	K162N	probably benign	Het
Tmem147	A	G	7: 30,427,221 (GRCm39)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,755,323 (GRCm39)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,141,374 (GRCm39)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 34,131,929 (GRCm39)	S13P	probably damaging	Het
Usp49	A	G	17: 47,983,151 (GRCm39)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,639,078 (GRCm39)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,450,954 (GRCm39)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,951,042 (GRCm39)	L134F	probably benign	Het
Wdfy3	T	A	5: 102,023,797 (GRCm39)	I2437F	probably benign	Het
Wwc2	A	T	8: 48,311,814 (GRCm39)	L783*	probably null	Het
Zer1	C	T	2: 29,998,258 (GRCm39)	R351H	probably benign	Het
Zfp715	A	T	7: 42,947,861 (GRCm39)	F700I	possibly damaging	Het
Zfp995	G	A	17: 22,098,960 (GRCm39)	H425Y	probably 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
IGL02338:Pdlim2	APN	14	70,411,906 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2014-01-15