Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Pdlim2'

560888

Institutional Source

Beutler Lab

Gene Symbol

Pdlim2

Ensembl Gene

ENSMUSG00000022090

Gene Name

PDZ and LIM domain 2

Synonyms

SLIM, 4732462F18Rik, mystique

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70164218-70177681 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70174377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 69 (I69F)

Ref Sequence

ENSEMBL: ENSMUSP00000022681 (fasta)

Gene Model

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

AlphaFold

Q8R1G6

PDB Structure

Solution structure of the PDZ domain of PDZ and LIM domain 2 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022681
AA Change: I69F

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

SMART Domains

Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: I69F

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

probably damaging
Transcript: ENSMUST00000143393
AA Change: I69F

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

SMART Domains

Protein: ENSMUSP00000119222
Gene: ENSMUSG00000022090
AA Change: I69F

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: I69F

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

SMART Domains

Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: I69F

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,630 (GRCm38)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,190,682 (GRCm38)	Y309*	probably null	Het
Ache	G	A	5: 137,291,489 (GRCm38)	G360D	probably damaging	Het
Acot12	T	C	13: 91,781,242 (GRCm38)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 24,711,401 (GRCm38)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,625,028 (GRCm38)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,360,759 (GRCm38)	V48M	probably damaging	Het
Atm	A	T	9: 53,512,008 (GRCm38)		probably null	Het
B4galt4	T	A	16: 38,753,940 (GRCm38)	F92Y	probably damaging	Het
Brwd1	C	T	16: 96,035,959 (GRCm38)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm38)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,287,631 (GRCm38)	R351G	probably damaging	Het
Ccdc80	T	G	16: 45,096,710 (GRCm38)	S610A	probably benign	Het
Cdh20	C	A	1: 104,954,071 (GRCm38)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,278,422 (GRCm38)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,622,046 (GRCm38)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,575,926 (GRCm38)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,799,602 (GRCm38)		probably null	Het
Dmwd	C	T	7: 19,080,309 (GRCm38)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,757,162 (GRCm38)	V588A	unknown	Het
Dnai4	T	G	4: 103,066,352 (GRCm38)	I427L	probably benign	Het
Dtx4	C	T	19: 12,482,073 (GRCm38)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm38)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 28,104,021 (GRCm38)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 106,435,073 (GRCm38)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,451,752 (GRCm38)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,736 (GRCm38)	K431T	probably damaging	Het
Grm7	T	G	6: 111,358,569 (GRCm38)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,411,094 (GRCm38)	N94S	probably benign	Het
Gvin2	A	C	7: 105,902,179 (GRCm38)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 119,701,084 (GRCm38)	G195W	probably damaging	Het
Hrc	A	T	7: 45,336,565 (GRCm38)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 25,919,637 (GRCm38)	Q863*	probably null	Het
Lemd2	G	A	17: 27,196,191 (GRCm38)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,552,910 (GRCm38)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,467,139 (GRCm38)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,067,411 (GRCm38)	T8A	unknown	Het
Mcm5	T	C	8: 75,121,716 (GRCm38)		probably null	Het
Med28	A	T	5: 45,523,452 (GRCm38)	D86V	probably damaging	Het
Mup11	A	G	4: 60,659,726 (GRCm38)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,540,198 (GRCm38)	F383L	probably benign	Het
Nid1	G	C	13: 13,468,385 (GRCm38)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm38)	V147A	probably benign	Het
Or12k8	A	G	2: 37,085,658 (GRCm38)	V30A	probably benign	Het
Pde9a	G	A	17: 31,420,284 (GRCm38)	V63I	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm38)		probably benign	Het
Phf20l1	T	C	15: 66,604,789 (GRCm38)	I245T	probably benign	Het
Prmt8	C	T	6: 127,689,829 (GRCm38)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,308,645 (GRCm38)		probably null	Het
Prpf4b	T	A	13: 34,884,011 (GRCm38)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,741,670 (GRCm38)	L69P	probably damaging	Het
Robo3	A	T	9: 37,424,724 (GRCm38)	I482N	probably damaging	Het
Scara3	C	T	14: 65,931,266 (GRCm38)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,728,294 (GRCm38)	H397L	probably benign	Het
Skint11	T	A	4: 114,231,747 (GRCm38)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,539,339 (GRCm38)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,402,332 (GRCm38)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,756,281 (GRCm38)	K495E	probably benign	Het
Son	T	G	16: 91,662,102 (GRCm38)	D2072E	unknown	Het
Stau1	A	G	2: 166,963,574 (GRCm38)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,116 (GRCm38)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,287,910 (GRCm38)	V13E	probably benign	Het
Syne2	A	T	12: 76,031,398 (GRCm38)		probably null	Het
Synm	T	C	7: 67,734,915 (GRCm38)	M558V	probably benign	Het
Tep1	T	A	14: 50,824,556 (GRCm38)		probably null	Het
Tmc6	A	G	11: 117,776,325 (GRCm38)	V149A	probably benign	Het
Tmem214	T	A	5: 30,870,721 (GRCm38)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,850,376 (GRCm38)		probably null	Het
Txlna	A	G	4: 129,631,278 (GRCm38)		probably null	Het
Vmn2r26	T	C	6: 124,061,989 (GRCm38)	I841T	probably damaging	Het
Wasf2	G	A	4: 133,195,734 (GRCm38)	V452I	probably damaging	Het
Wdr62	C	T	7: 30,252,336 (GRCm38)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,595,371 (GRCm38)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,999,626 (GRCm38)		probably null	Het
Zfat	T	C	15: 68,180,007 (GRCm38)	E646G	probably benign	Het

Other mutations in Pdlim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02295:Pdlim2	APN	14	70,166,083 (GRCm38)	splice site	probably benign
IGL02338:Pdlim2	APN	14	70,174,457 (GRCm38)	missense	probably damaging	1.00
IGL03286:Pdlim2	APN	14	70,174,476 (GRCm38)	missense	possibly damaging	0.88
PIT4504001:Pdlim2	UTSW	14	70,166,130 (GRCm38)	missense	probably benign	0.44
R0751:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R0768:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R0832:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1167:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1207:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1207:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1343:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1412:Pdlim2	UTSW	14	70,174,324 (GRCm38)	splice site	probably benign
R1595:Pdlim2	UTSW	14	70,164,744 (GRCm38)	missense	probably damaging	1.00
R1689:Pdlim2	UTSW	14	70,171,239 (GRCm38)	missense	probably damaging	0.98
R1703:Pdlim2	UTSW	14	70,174,335 (GRCm38)	critical splice donor site	probably null
R1843:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1845:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1923:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1924:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R1925:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R2004:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R2005:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R2202:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R2205:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R2237:Pdlim2	UTSW	14	70,171,249 (GRCm38)	missense	probably benign	0.05
R2843:Pdlim2	UTSW	14	70,166,100 (GRCm38)	missense	probably benign	0.02
R4042:Pdlim2	UTSW	14	70,164,779 (GRCm38)	missense	probably damaging	1.00
R4965:Pdlim2	UTSW	14	70,168,015 (GRCm38)	unclassified	probably benign
R4971:Pdlim2	UTSW	14	70,167,759 (GRCm38)	missense	probably damaging	1.00
R5951:Pdlim2	UTSW	14	70,167,780 (GRCm38)	missense	probably benign	0.06
R6252:Pdlim2	UTSW	14	70,167,688 (GRCm38)	missense	probably damaging	1.00
R7597:Pdlim2	UTSW	14	70,166,196 (GRCm38)	missense	possibly damaging	0.58
R7627:Pdlim2	UTSW	14	70,171,475 (GRCm38)	missense	probably benign
R8342:Pdlim2	UTSW	14	70,166,114 (GRCm38)	missense	probably damaging	1.00
R8554:Pdlim2	UTSW	14	70,171,249 (GRCm38)	missense	probably benign
R9361:Pdlim2	UTSW	14	70,164,741 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTCCCAGAGCTCAGGACATG -3'
(R):5'- AACCTTGAGGACCCTTCTGC -3'

Sequencing Primer
(F):5'- ACATGCCAGAGGAGCCTG -3'
(R):5'- TGAGGACCCTTCTGCTCCAG -3'

Posted On

2019-06-26