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: 0.074) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70401667-70415130 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70411826 bp (GRCm39)

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: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dnai4	T	G	4: 102,923,549 (GRCm39)	I427L	probably benign	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Or12k8	A	G	2: 36,975,670 (GRCm39)	V30A	probably benign	Het
Pde9a	G	A	17: 31,639,258 (GRCm39)	V63I	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,262 (GRCm39)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Tnnt2	T	A	1: 135,778,114 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,518,836 (GRCm39)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	probably benign	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
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
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

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