Mutagenetix > Incidental Mutation

Incidental Mutation 'R2510:Lmo2'

251901

Institutional Source

Beutler Lab

Gene Symbol

Lmo2

Ensembl Gene

ENSMUSG00000032698

Gene Name

LIM domain only 2

Synonyms

Rbtn2, Rhom-2, Rbtn-2

MMRRC Submission

040416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103788340-103812223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103811407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 147 (Y147H)

Ref Sequence

ENSEMBL: ENSMUSP00000106769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111139] [ENSMUST00000111140] [ENSMUST00000111143] [ENSMUST00000123437] [ENSMUST00000138815] [ENSMUST00000170926] [ENSMUST00000156813]

AlphaFold

P25801

Predicted Effect

probably damaging
Transcript: ENSMUST00000111139
AA Change: Y147H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106769
Gene: ENSMUSG00000032698
AA Change: Y147H

Domain	Start	End	E-Value	Type
low complexity region	22	44	N/A	INTRINSIC
low complexity region	60	73	N/A	INTRINSIC
LIM	91	145	1.71e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111140
AA Change: Y219H

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106770
Gene: ENSMUSG00000032698
AA Change: Y219H

Domain	Start	End	E-Value	Type
low complexity region	22	44	N/A	INTRINSIC
low complexity region	60	73	N/A	INTRINSIC
LIM	99	153	4.03e-10	SMART
LIM	163	217	1.71e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111143
AA Change: Y211H

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106773
Gene: ENSMUSG00000032698
AA Change: Y211H

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
LIM	91	145	4.03e-10	SMART
LIM	155	209	1.71e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123437
AA Change: Y149H

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117703
Gene: ENSMUSG00000032698
AA Change: Y149H

Domain	Start	End	E-Value	Type
LIM	29	83	4.03e-10	SMART
LIM	93	147	1.71e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133210

Predicted Effect

probably benign
Transcript: ENSMUST00000138815

SMART Domains

Protein: ENSMUSP00000121927
Gene: ENSMUSG00000032698

Domain	Start	End	E-Value	Type
Pfam:LIM	30	59	2.3e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170926
AA Change: Y149H

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128317
Gene: ENSMUSG00000032698
AA Change: Y149H

Domain	Start	End	E-Value	Type
LIM	29	83	4.03e-10	SMART
LIM	93	147	1.71e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156813

SMART Domains

Protein: ENSMUSP00000122369
Gene: ENSMUSG00000032698

Domain	Start	End	E-Value	Type
LIM	29	83	4.03e-10	SMART
LIM	93	144	1.36e-7	SMART

Meta Mutation Damage Score

0.1446

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit lack of yolk sac erythropoiesis and die around embryonic day 10.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930571K23Rik	C	A	7: 124,968,311 (GRCm39)		noncoding transcript	Het
Adra1d	C	A	2: 131,404,055 (GRCm39)	E12*	probably null	Het
Ago4	A	T	4: 126,410,864 (GRCm39)	D208E	probably damaging	Het
Agrn	A	T	4: 156,250,881 (GRCm39)		probably null	Het
Atxn2	C	T	5: 121,919,456 (GRCm39)	S388L	probably damaging	Het
Bbox1	A	T	2: 110,135,976 (GRCm39)	M1K	probably null	Het
Btaf1	G	A	19: 36,979,845 (GRCm39)	R1538H	probably benign	Het
Car11	G	A	7: 45,350,783 (GRCm39)	G93E	probably damaging	Het
Col18a1	A	G	10: 76,932,102 (GRCm39)	L329P	unknown	Het
Copb2	T	A	9: 98,453,701 (GRCm39)		probably benign	Het
Cracdl	T	C	1: 37,664,381 (GRCm39)	M506V	probably benign	Het
Dnah2	G	T	11: 69,415,032 (GRCm39)	S234*	probably null	Het
Dnah9	T	C	11: 65,895,995 (GRCm39)	Y2460C	probably damaging	Het
Dnai2	G	C	11: 114,647,993 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,251,367 (GRCm39)	T1814K	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fancm	A	T	12: 65,160,544 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,816,782 (GRCm39)	S4172P	probably benign	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gca	T	G	2: 62,520,318 (GRCm39)	S159R	probably damaging	Het
Gja8	T	G	3: 96,827,033 (GRCm39)	T210P	probably damaging	Het
Gm5117	T	A	8: 32,228,383 (GRCm39)		noncoding transcript	Het
Gm5900	T	A	7: 104,599,571 (GRCm39)		noncoding transcript	Het
Gpi1	A	G	7: 33,905,348 (GRCm39)	S359P	probably damaging	Het
Grm5	A	G	7: 87,685,299 (GRCm39)	E472G	probably benign	Het
Gsta5	T	A	9: 78,202,089 (GRCm39)	M1K	probably null	Het
Hoxd12	G	A	2: 74,505,815 (GRCm39)	A129T	possibly damaging	Het
Ifnlr1	G	T	4: 135,432,559 (GRCm39)	D332Y	probably damaging	Het
Ift140	T	C	17: 25,255,282 (GRCm39)	I466T	probably benign	Het
Kansl2	A	G	15: 98,426,742 (GRCm39)		probably null	Het
Kat2a	T	C	11: 100,602,968 (GRCm39)	Q88R	probably benign	Het
Kcnh7	T	C	2: 62,552,261 (GRCm39)	D910G	probably benign	Het
Klk1b1	T	C	7: 43,618,803 (GRCm39)	V60A	probably damaging	Het
Krt7	A	C	15: 101,310,538 (GRCm39)	I62L	probably benign	Het
Llgl1	A	G	11: 60,600,862 (GRCm39)	K653E	probably damaging	Het
Maco1	A	G	4: 134,531,699 (GRCm39)	S657P	probably damaging	Het
Mafb	T	G	2: 160,208,496 (GRCm39)	E34A	probably damaging	Het
Meiob	T	C	17: 25,035,571 (GRCm39)		probably benign	Het
Mllt10	C	A	2: 18,069,935 (GRCm39)	D30E	possibly damaging	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Muc5b	A	T	7: 141,412,798 (GRCm39)	N1915Y	unknown	Het
Mycbp2	C	T	14: 103,392,691 (GRCm39)	R3290Q	probably damaging	Het
Ntaq1	C	A	15: 58,017,020 (GRCm39)	A145D	probably damaging	Het
Obscn	G	A	11: 58,933,140 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,915,959 (GRCm39)	V277D	probably damaging	Het
Omp	A	T	7: 97,794,552 (GRCm39)	M25K	possibly damaging	Het
Or10d4b	T	A	9: 39,534,727 (GRCm39)	F101I	probably damaging	Het
Or4b12	C	T	2: 90,095,950 (GRCm39)	V275I	probably damaging	Het
Or4k40	G	A	2: 111,250,796 (GRCm39)	P167S	possibly damaging	Het
Or52n2c	G	A	7: 104,574,894 (GRCm39)	H26Y	probably benign	Het
Otoa	C	T	7: 120,759,695 (GRCm39)	T1099I	probably benign	Het
Pcdh15	T	G	10: 74,467,331 (GRCm39)	S1715A	probably benign	Het
Pcnx4	T	C	12: 72,613,746 (GRCm39)	W564R	probably damaging	Het
Pde12	T	C	14: 26,386,681 (GRCm39)	*609W	probably null	Het
Pitpnm2	T	C	5: 124,274,389 (GRCm39)	E240G	probably damaging	Het
Plppr4	G	T	3: 117,125,355 (GRCm39)	N161K	probably damaging	Het
Ppp1r37	T	C	7: 19,266,357 (GRCm39)	K470E	possibly damaging	Het
Pramel27	G	A	4: 143,578,561 (GRCm39)	V274I	probably benign	Het
Ptprd	C	A	4: 76,004,248 (GRCm39)		probably null	Het
Rgs9	T	C	11: 109,159,798 (GRCm39)	Y178C	probably benign	Het
Rims2	T	G	15: 39,449,048 (GRCm39)	S1217R	probably damaging	Het
Rorc	C	T	3: 94,296,427 (GRCm39)	T208I	probably benign	Het
Ryr3	C	T	2: 112,506,249 (GRCm39)	E3458K	probably benign	Het
Scn5a	A	T	9: 119,362,751 (GRCm39)	V623E	probably benign	Het
Slc28a2	C	T	2: 122,281,497 (GRCm39)	Q229*	probably null	Het
Slc35f3	C	T	8: 127,025,445 (GRCm39)		probably benign	Het
Spg11	T	G	2: 121,905,791 (GRCm39)	I1285L	probably benign	Het
Sstr2	A	T	11: 113,515,749 (GRCm39)	I223F	probably damaging	Het
Susd1	A	T	4: 59,349,855 (GRCm39)	V527E	possibly damaging	Het
Tas1r2	A	G	4: 139,387,162 (GRCm39)	N207S	probably damaging	Het
Trappc10	A	G	10: 78,047,357 (GRCm39)	S380P	possibly damaging	Het
Ttn	T	C	2: 76,571,336 (GRCm39)	D26519G	probably damaging	Het
Vmn1r215	A	G	13: 23,260,343 (GRCm39)	I128V	probably benign	Het
Vmn1r37	T	C	6: 66,708,935 (GRCm39)	L150P	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r52	G	T	7: 9,904,795 (GRCm39)	A348E	probably benign	Het
Ypel5	T	C	17: 73,153,386 (GRCm39)	L30P	probably damaging	Het
Zfp985	A	G	4: 147,667,443 (GRCm39)	T104A	possibly damaging	Het

Other mutations in Lmo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Lmo2	APN	2	103,811,432 (GRCm39)	missense	probably benign	0.21
R1983:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2013:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2014:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2131:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2132:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2133:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2233:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2235:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R3038:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R3813:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4058:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4059:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4448:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4450:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4544:Lmo2	UTSW	2	103,806,382 (GRCm39)	missense	probably damaging	1.00
R4805:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4808:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R4975:Lmo2	UTSW	2	103,806,488 (GRCm39)	nonsense	probably null
R5310:Lmo2	UTSW	2	103,806,445 (GRCm39)	missense	probably damaging	0.98
R5823:Lmo2	UTSW	2	103,811,417 (GRCm39)	missense	probably damaging	1.00
R6267:Lmo2	UTSW	2	103,800,946 (GRCm39)	missense	possibly damaging	0.86
R6296:Lmo2	UTSW	2	103,800,946 (GRCm39)	missense	possibly damaging	0.86
R6949:Lmo2	UTSW	2	103,801,018 (GRCm39)	start codon destroyed	probably null	0.53
R8051:Lmo2	UTSW	2	103,801,045 (GRCm39)	missense	possibly damaging	0.95
R8719:Lmo2	UTSW	2	103,811,264 (GRCm39)	missense	probably damaging	0.98
R8746:Lmo2	UTSW	2	103,806,384 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTGTGCATCCTGTGACAAGC -3'
(R):5'- TTCTCTCTAAGGGCTGGTCC -3'

Sequencing Primer
(F):5'- ATCCTGTGACAAGCGGATC -3'
(R):5'- GAAGTCTCAGCCTTTGCATTATG -3'

Posted On

2014-12-04