Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Lmo2'

240158

Institutional Source

Beutler Lab

Gene Symbol

Lmo2

Ensembl Gene

ENSMUSG00000032698

Gene Name

LIM domain only 2

Synonyms

Rbtn2, Rhom-2, Rbtn-2

MMRRC Submission

040234-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2233 (G1)

Quality Score

225

Status

Not 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: 97.2%
20x: 94.9%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,727,113 (GRCm39)	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,271,888 (GRCm39)	I1214V	probably benign	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dst	A	G	1: 34,313,343 (GRCm39)	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,002 (GRCm39)	T388A	probably damaging	Het
Gimap6	T	A	6: 48,681,418 (GRCm39)	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,473,446 (GRCm39)		probably benign	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,658,510 (GRCm39)	D385G	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Kifap3	T	A	1: 163,683,634 (GRCm39)	D438E	probably benign	Het
Lrrc41	G	A	4: 115,953,582 (GRCm39)	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Nynrin	G	A	14: 56,109,524 (GRCm39)	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or9m1	G	A	2: 87,733,819 (GRCm39)	S67F	probably damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,826,402 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,193,579 (GRCm39)	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,772,092 (GRCm39)	K33E	probably benign	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 76,020,484 (GRCm39)	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,801,587 (GRCm39)	C9S	possibly damaging	Het
Snap91	T	C	9: 86,680,624 (GRCm39)	T427A	probably benign	Het
St3gal6	A	G	16: 58,293,897 (GRCm39)	F211L	probably damaging	Het
Stab1	G	A	14: 30,883,837 (GRCm39)	S240F	probably benign	Het
Sun3	T	A	11: 8,973,371 (GRCm39)	K109*	probably null	Het
Syne1	T	C	10: 4,991,484 (GRCm39)	N8410S	probably benign	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Tmem135	T	C	7: 88,803,282 (GRCm39)	N297S	probably damaging	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Txnl4b	A	G	8: 110,295,551 (GRCm39)		probably benign	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het
Zmpste24	T	C	4: 120,955,162 (GRCm39)	D12G	probably benign	Het
Zscan25	A	G	5: 145,220,502 (GRCm39)	Y99C	probably 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
R2235:Lmo2	UTSW	2	103,811,407 (GRCm39)	missense	probably damaging	0.99
R2510: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'- TGTGCATCCTGTGACAAGC -3'
(R):5'- ATTCTCTCTAAGGGCTGGTCC -3'

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

Posted On

2014-10-15