Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Lpp'

194807

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

039787-MU

Accession Numbers

Essential gene?

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

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24212257-24811328 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24663874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 259 (I259V)

Ref Sequence

ENSEMBL: ENSMUSP00000110969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038053] [ENSMUST00000078988] [ENSMUST00000115314] [ENSMUST00000232546]

AlphaFold

Q8BFW7

Predicted Effect

probably benign
Transcript: ENSMUST00000038053
AA Change: I384V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: I384V

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 benign
Transcript: ENSMUST00000078988
AA Change: I384V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: I384V

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 benign
Transcript: ENSMUST00000115314
AA Change: I259V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: I259V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232546

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	A	8: 88,315,585 (GRCm39)	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,098,290 (GRCm39)	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,167,390 (GRCm39)		probably null	Het
Adam23	G	A	1: 63,582,329 (GRCm39)	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,169,023 (GRCm39)	Y168*	probably null	Het
Ano6	A	G	15: 95,870,451 (GRCm39)	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,088,400 (GRCm39)	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,906,612 (GRCm39)	K30*	probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atg7	A	G	6: 114,650,638 (GRCm39)	T83A	possibly damaging	Het
Card9	T	C	2: 26,249,546 (GRCm39)	E5G	probably damaging	Het
Cars1	A	G	7: 143,123,194 (GRCm39)	V474A	probably damaging	Het
Cd300ld2	A	G	11: 114,904,601 (GRCm39)	F89L	probably benign	Het
Celf2	T	A	2: 6,889,769 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,451,205 (GRCm39)	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cox6b2	A	G	7: 4,754,937 (GRCm39)	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543 (GRCm39)	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,782 (GRCm39)	Y1997F	probably damaging	Het
Dync2i1	A	G	12: 116,189,649 (GRCm39)	L620P	probably damaging	Het
Epha4	A	T	1: 77,364,460 (GRCm39)	I683N	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gmip	A	G	8: 70,266,774 (GRCm39)	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,094,639 (GRCm39)	S202P	probably damaging	Het
Ifi208	C	A	1: 173,505,476 (GRCm39)	D75E	possibly damaging	Het
Il24	T	C	1: 130,811,680 (GRCm39)	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,099,763 (GRCm39)	C124R	probably benign	Het
Kcnq3	A	T	15: 65,867,270 (GRCm39)	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,141,445 (GRCm39)	D418V	probably benign	Het
Kif13a	A	G	13: 46,906,089 (GRCm39)	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,927,154 (GRCm39)	V1179E	possibly damaging	Het
Mapkapk2	A	G	1: 130,986,087 (GRCm39)		probably null	Het
Marchf7	T	C	2: 60,065,265 (GRCm39)	S514P	probably benign	Het
Nr4a2	T	A	2: 56,999,104 (GRCm39)	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,660,115 (GRCm39)	D328G	probably damaging	Het
Obox6	T	C	7: 15,568,445 (GRCm39)	K144E	probably damaging	Het
Oga	A	T	19: 45,746,845 (GRCm39)	M735K	possibly damaging	Het
Olfml2b	G	A	1: 170,509,346 (GRCm39)	V565M	probably damaging	Het
Or1d2	T	C	11: 74,255,819 (GRCm39)	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114 (GRCm39)	A590V	possibly damaging	Het
Picalm	T	C	7: 89,809,757 (GRCm39)	S78P	possibly damaging	Het
Por	T	A	5: 135,758,339 (GRCm39)	Y105*	probably null	Het
Ppara	A	G	15: 85,682,180 (GRCm39)	K292R	probably benign	Het
Pramel27	T	C	4: 143,577,380 (GRCm39)	F3S	probably damaging	Het
Prss59	T	G	6: 40,903,096 (GRCm39)	Y92S	probably damaging	Het
Ralgds	T	A	2: 28,440,558 (GRCm39)	I844N	probably damaging	Het
Rttn	T	C	18: 89,027,441 (GRCm39)	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,332,060 (GRCm39)	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,767,811 (GRCm39)		probably null	Het
Slc5a7	T	C	17: 54,600,006 (GRCm39)	M136V	probably benign	Het
Smc4	C	A	3: 68,941,441 (GRCm39)	A1232E	probably damaging	Het
Smg1	A	T	7: 117,802,287 (GRCm39)	C270*	probably null	Het
Sparcl1	C	T	5: 104,240,690 (GRCm39)	E245K	probably benign	Het
Taf2	T	C	15: 54,879,850 (GRCm39)	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,851,010 (GRCm39)	D105G	probably benign	Het
Tmem62	T	C	2: 120,814,958 (GRCm39)		probably null	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	probably benign	Het
Ufd1	T	G	16: 18,642,003 (GRCm39)	C151W	probably damaging	Het
Upk1b	T	G	16: 38,600,402 (GRCm39)	M193L	probably benign	Het
Usp15	A	G	10: 122,968,949 (GRCm39)	M334T	probably damaging	Het
Utp20	A	G	10: 88,645,631 (GRCm39)	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,614,302 (GRCm39)	L4*	probably null	Het
Vmn2r96	G	A	17: 18,802,915 (GRCm39)	G83D	possibly damaging	Het
Zbtb8a	T	C	4: 129,248,110 (GRCm39)	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,365,656 (GRCm39)	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043 (GRCm39)	V667A	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
R1581:Lpp	UTSW	16	24,500,591 (GRCm39)	nonsense	probably null
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'- AGACACTGTTGAATGCACCTGTCC -3'
(R):5'- TCATGGTGGTCTACTCAGACACGC -3'

Sequencing Primer
(F):5'- GTTGAATGCACCTGTCCTACTC -3'
(R):5'- TACTCCAGAGGAGCTGATACAGTC -3'

Posted On

2014-05-23