Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Lpp'

171439

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

039618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24212257-24811328 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 24500591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 134 (C134*)

Ref Sequence

ENSEMBL: ENSMUSP00000078005 (fasta)

Gene Model

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

AlphaFold

Q8BFW7

Predicted Effect

probably null
Transcript: ENSMUST00000038053
AA Change: C134*

SMART Domains

Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: C134*

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
AA Change: C134*

SMART Domains

Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: C134*

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

noncoding transcript
Transcript: ENSMUST00000231279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231352

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Septin9	A	G	11: 117,181,421 (GRCm39)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	probably benign	Het

Other mutations in Lpp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Lpp	APN	16	24,663,938 (GRCm39)	missense	probably damaging	1.00
IGL01354:Lpp	APN	16	24,580,816 (GRCm39)	nonsense	probably null
IGL02141:Lpp	APN	16	24,580,365 (GRCm39)	missense	probably damaging	0.98
IGL02182:Lpp	APN	16	24,580,895 (GRCm39)	missense	probably damaging	0.99
IGL02230:Lpp	APN	16	24,580,895 (GRCm39)	missense	probably damaging	0.99
IGL02232:Lpp	APN	16	24,580,895 (GRCm39)	missense	probably damaging	0.99
IGL02234:Lpp	APN	16	24,580,895 (GRCm39)	missense	probably damaging	0.99
IGL02236:Lpp	APN	16	24,580,895 (GRCm39)	missense	probably damaging	0.99
IGL02371:Lpp	APN	16	24,580,361 (GRCm39)	missense	probably damaging	0.96
IGL03265:Lpp	APN	16	24,580,737 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Lpp	UTSW	16	24,580,697 (GRCm39)	missense	probably benign	0.23
R0047:Lpp	UTSW	16	24,480,550 (GRCm39)	splice site	probably benign
R0047:Lpp	UTSW	16	24,480,550 (GRCm39)	splice site	probably benign
R0092:Lpp	UTSW	16	24,580,352 (GRCm39)	missense	probably benign	0.01
R0385:Lpp	UTSW	16	24,580,587 (GRCm39)	missense	probably damaging	1.00
R0389:Lpp	UTSW	16	24,426,991 (GRCm39)	missense	probably damaging	1.00
R0504:Lpp	UTSW	16	24,790,720 (GRCm39)	missense	probably damaging	1.00
R0798:Lpp	UTSW	16	24,790,622 (GRCm39)	nonsense	probably null
R1199:Lpp	UTSW	16	24,500,610 (GRCm39)	missense	probably damaging	1.00
R1755:Lpp	UTSW	16	24,663,874 (GRCm39)	missense	probably benign
R1848:Lpp	UTSW	16	24,580,405 (GRCm39)	missense	probably damaging	1.00
R1980:Lpp	UTSW	16	24,480,451 (GRCm39)	missense	probably damaging	1.00
R3432:Lpp	UTSW	16	24,708,636 (GRCm39)	missense	probably benign	0.04
R3755:Lpp	UTSW	16	24,663,911 (GRCm39)	missense	probably benign	0.00
R4078:Lpp	UTSW	16	24,500,611 (GRCm39)	missense	probably damaging	1.00
R4214:Lpp	UTSW	16	24,580,804 (GRCm39)	nonsense	probably null
R4712:Lpp	UTSW	16	24,580,407 (GRCm39)	missense	possibly damaging	0.94
R4806:Lpp	UTSW	16	24,480,430 (GRCm39)	missense	probably damaging	0.97
R4968:Lpp	UTSW	16	24,798,064 (GRCm39)	missense	probably damaging	1.00
R5047:Lpp	UTSW	16	24,790,596 (GRCm39)	missense	probably damaging	1.00
R5371:Lpp	UTSW	16	24,708,554 (GRCm39)	missense	probably damaging	1.00
R5536:Lpp	UTSW	16	24,663,956 (GRCm39)	missense	possibly damaging	0.54
R5875:Lpp	UTSW	16	24,427,059 (GRCm39)	missense	probably benign	0.10
R7285:Lpp	UTSW	16	24,796,029 (GRCm39)	missense	probably damaging	1.00
R7587:Lpp	UTSW	16	24,581,029 (GRCm39)	splice site	probably null
R7846:Lpp	UTSW	16	24,426,876 (GRCm39)	start codon destroyed	probably null	0.98
R9065:Lpp	UTSW	16	24,580,889 (GRCm39)	missense	probably benign	0.03
R9378:Lpp	UTSW	16	24,540,737 (GRCm39)	start codon destroyed	probably benign	0.00
R9616:Lpp	UTSW	16	24,580,719 (GRCm39)	missense	probably benign
Z1176:Lpp	UTSW	16	24,580,353 (GRCm39)	missense	probably benign	0.00
Z1177:Lpp	UTSW	16	24,480,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGCTGCCACTAACCAGAGACAG -3'
(R):5'- TGTCAGATTAGGAGGTAGGGCCAC -3'

Sequencing Primer
(F):5'- aaggagagagggaaagggag -3'
(R):5'- CAAGCAGCACTGTGAGAAGT -3'

Posted On

2014-04-13