Mutagenetix > Incidental Mutation

Incidental Mutation 'R7587:Lpp'

628483

Institutional Source

Beutler Lab

Gene Symbol

Lpp

Ensembl Gene

ENSMUSG00000033306

Gene Name

LIM domain containing preferred translocation partner in lipoma

Synonyms

B130055L10Rik, 9430020K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R7587 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24393507-24992578 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 24762279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038053] [ENSMUST00000078988] [ENSMUST00000115314]

AlphaFold

Q8BFW7

Predicted Effect

probably null
Transcript: ENSMUST00000038053

SMART Domains

Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306

Domain	Start	End	E-Value	Type
low complexity region	41	55	N/A	INTRINSIC
low complexity region	61	93	N/A	INTRINSIC
coiled coil region	109	134	N/A	INTRINSIC
low complexity region	174	197	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC
LIM	416	469	1.03e-16	SMART
LIM	476	528	1.94e-12	SMART
LIM	536	597	2.5e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000078988

SMART Domains

Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306

Domain	Start	End	E-Value	Type
low complexity region	41	55	N/A	INTRINSIC
low complexity region	61	93	N/A	INTRINSIC
coiled coil region	109	134	N/A	INTRINSIC
low complexity region	174	197	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
low complexity region	371	386	N/A	INTRINSIC
LIM	416	469	1.03e-16	SMART
LIM	476	528	1.94e-12	SMART
LIM	536	597	2.5e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115314

SMART Domains

Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306

Domain	Start	End	E-Value	Type
low complexity region	49	72	N/A	INTRINSIC
low complexity region	130	142	N/A	INTRINSIC
low complexity region	246	261	N/A	INTRINSIC
LIM	291	344	1.03e-16	SMART
LIM	351	403	1.94e-12	SMART
LIM	411	472	2.5e-15	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Gene disruption results in fertility problems involving females but not males. Migration and survival of MEFs are also abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,792,087	T131A	probably damaging	Het
Asah1	A	T	8: 41,374,541	V15D	probably benign	Het
Asic1	A	C	15: 99,695,590	Q276P	probably damaging	Het
Atl2	A	T	17: 79,865,067	V158E	probably benign	Het
Atrn	T	A	2: 130,980,114	I909N	probably damaging	Het
BC034090	A	G	1: 155,217,486	V742A	probably damaging	Het
Capzb	T	A	4: 139,262,023	D85E	possibly damaging	Het
Cdh20	T	C	1: 104,941,279	F165S	probably damaging	Het
Cfap44	A	G	16: 44,404,106	E59G	probably benign	Het
Clpsl2	G	A	17: 28,549,541	V10I	probably benign	Het
D630003M21Rik	T	C	2: 158,196,388	Y1046C	probably benign	Het
D630003M21Rik	T	A	2: 158,201,056	S855C	probably damaging	Het
D6Wsu163e	A	G	6: 126,955,896	I361V	probably benign	Het
Dchs2	A	G	3: 83,304,515	I1874V	probably benign	Het
Dennd2a	T	G	6: 39,483,135	K679Q	probably damaging	Het
Dio2	A	G	12: 90,729,560	V218A	probably benign	Het
Fam208b	T	C	13: 3,568,849	K2251E	possibly damaging	Het
Gm3286	A	G	5: 95,521,411	T100A	probably damaging	Het
Gpr107	A	T	2: 31,168,826	K109N	probably benign	Het
Gpr108	C	T	17: 57,236,732	R448Q	probably damaging	Het
Gucy2c	A	G	6: 136,704,290	V932A	probably damaging	Het
Kcnj8	T	C	6: 142,566,339	T181A	probably damaging	Het
Kdm3b	A	G	18: 34,797,027		probably null	Het
Lipc	A	G	9: 70,818,924	Y168H	probably damaging	Het
Lipi	C	T	16: 75,550,215	V439M	probably benign	Het
Lrp1b	T	G	2: 40,730,717	D3583A		Het
Ltbr	T	C	6: 125,312,352	T165A	probably benign	Het
Mroh3	A	G	1: 136,190,998	I527T	probably benign	Het
Mylk	A	G	16: 34,922,517	E1133G	probably benign	Het
Nat3	T	C	8: 67,547,574	I35T	probably damaging	Het
Ncbp3	T	C	11: 73,066,765		probably null	Het
Nedd1	G	A	10: 92,698,730	T306M	probably benign	Het
Nexn	T	C	3: 152,247,178	R316G	probably benign	Het
Nox4	A	G	7: 87,317,302	H207R	probably damaging	Het
Nsun6	T	C	2: 15,039,825	Q110R	probably benign	Het
Olfr22-ps1	C	T	11: 73,955,184	Q165*	probably null	Het
Olfr668	C	T	7: 104,925,056	R236H	probably benign	Het
Olfr851	T	A	9: 19,497,522	V258E	probably damaging	Het
Pappa2	T	C	1: 158,851,131	D905G	probably damaging	Het
Pepd	T	C	7: 34,969,540	L195S	probably damaging	Het
Pms1	A	G	1: 53,207,316	S355P	probably benign	Het
Pop1	A	T	15: 34,502,413	K82M	probably damaging	Het
Ppp1r9b	T	A	11: 95,001,940	D655E	possibly damaging	Het
Ppt2	A	G	17: 34,626,803		probably null	Het
Prss35	T	A	9: 86,755,374	C66S	probably damaging	Het
Rfc3	A	T	5: 151,651,151	M1K	probably null	Het
Rffl	T	C	11: 82,810,148	D284G	probably damaging	Het
Robo3	T	C	9: 37,429,646	D110G	probably damaging	Het
Rtel1	G	A	2: 181,322,315	V36M	probably damaging	Het
Slc1a7	T	A	4: 108,010,486	I457K	possibly damaging	Het
Smco1	A	G	16: 32,273,723	M71V	probably benign	Het
Snrnp200	G	A	2: 127,227,902	S989N	probably damaging	Het
Spef2	T	A	15: 9,713,219	I356F	probably damaging	Het
Stk24	C	T	14: 121,302,287	A166T	probably damaging	Het
Tada2b	T	C	5: 36,476,767	I156V	probably benign	Het
Tbce	C	T	13: 14,019,742	V111M	probably damaging	Het
Tlnrd1	A	G	7: 83,882,947	L92P	probably damaging	Het
Tnr	T	A	1: 159,886,208	D735E	probably benign	Het
Tram1	T	C	1: 13,579,547	H110R	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Unc5b	C	T	10: 60,783,120	C81Y	probably damaging	Het
Vps13a	G	A	19: 16,703,789	T1041M	probably benign	Het

Other mutations in Lpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Lpp	APN	16	24845188	missense	probably damaging	1.00
IGL01354:Lpp	APN	16	24762066	nonsense	probably null
IGL02141:Lpp	APN	16	24761615	missense	probably damaging	0.98
IGL02182:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02230:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02232:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02234:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02236:Lpp	APN	16	24762145	missense	probably damaging	0.99
IGL02371:Lpp	APN	16	24761611	missense	probably damaging	0.96
IGL03265:Lpp	APN	16	24761987	missense	probably damaging	1.00
PIT4585001:Lpp	UTSW	16	24761947	missense	probably benign	0.23
R0047:Lpp	UTSW	16	24661800	splice site	probably benign
R0047:Lpp	UTSW	16	24661800	splice site	probably benign
R0092:Lpp	UTSW	16	24761602	missense	probably benign	0.01
R0385:Lpp	UTSW	16	24761837	missense	probably damaging	1.00
R0389:Lpp	UTSW	16	24608241	missense	probably damaging	1.00
R0504:Lpp	UTSW	16	24971970	missense	probably damaging	1.00
R0798:Lpp	UTSW	16	24971872	nonsense	probably null
R1199:Lpp	UTSW	16	24681860	missense	probably damaging	1.00
R1581:Lpp	UTSW	16	24681841	nonsense	probably null
R1755:Lpp	UTSW	16	24845124	missense	probably benign
R1848:Lpp	UTSW	16	24761655	missense	probably damaging	1.00
R1980:Lpp	UTSW	16	24661701	missense	probably damaging	1.00
R3432:Lpp	UTSW	16	24889886	missense	probably benign	0.04
R3755:Lpp	UTSW	16	24845161	missense	probably benign	0.00
R4078:Lpp	UTSW	16	24681861	missense	probably damaging	1.00
R4214:Lpp	UTSW	16	24762054	nonsense	probably null
R4712:Lpp	UTSW	16	24761657	missense	possibly damaging	0.94
R4806:Lpp	UTSW	16	24661680	missense	probably damaging	0.97
R4968:Lpp	UTSW	16	24979314	missense	probably damaging	1.00
R5047:Lpp	UTSW	16	24971846	missense	probably damaging	1.00
R5371:Lpp	UTSW	16	24889804	missense	probably damaging	1.00
R5536:Lpp	UTSW	16	24845206	missense	possibly damaging	0.54
R5875:Lpp	UTSW	16	24608309	missense	probably benign	0.10
R7285:Lpp	UTSW	16	24977279	missense	probably damaging	1.00
R7846:Lpp	UTSW	16	24608126	start codon destroyed	probably null	0.98
R9065:Lpp	UTSW	16	24762139	missense	probably benign	0.03
R9378:Lpp	UTSW	16	24721987	start codon destroyed	probably benign	0.00
R9616:Lpp	UTSW	16	24761969	missense	probably benign
Z1176:Lpp	UTSW	16	24761603	missense	probably benign	0.00
Z1177:Lpp	UTSW	16	24661712	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTATGCAGCAGGTCCTAGC -3'
(R):5'- GATTCCGCCCTTAGATCAGACTTTC -3'

Sequencing Primer
(F):5'- CTATGCAGCAGGTCCTAGCTATGG -3'
(R):5'- TGCACTGGATGCTGAAGA -3'

Posted On

2020-04-21