Mutagenetix > Incidental Mutation

Incidental Mutation 'P4748:Meis2'

26532

Institutional Source

Beutler Lab

Gene Symbol

Meis2

Ensembl Gene

ENSMUSG00000027210

Gene Name

Meis homeobox 2

Synonyms

Mrg1, Meis2, A430109D20Rik, Stra10

Accession Numbers

Essential gene?

Probably essential (E-score: 0.854) question?

Stock #

P4748 () of strain 712

Quality Score

222

Status

Validated (trace)

Chromosome

Chromosomal Location

115693545-115896320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115694961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 394 (Q394L)

Ref Sequence

ENSEMBL: ENSMUSP00000028639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028639] [ENSMUST00000074285] [ENSMUST00000102538] [ENSMUST00000110906] [ENSMUST00000110907] [ENSMUST00000110908]

AlphaFold

P97367

Predicted Effect

probably benign
Transcript: ENSMUST00000028639
AA Change: Q394L

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: Q394L

Domain	Start	End	E-Value	Type
Pfam:Meis_PKNOX_N	110	194	3.8e-48	PFAM
HOX	276	341	4.27e-12	SMART
low complexity region	395	402	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074285

SMART Domains

Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	275	340	4.27e-12	SMART
low complexity region	375	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102538
AA Change: Q387L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: Q387L

Domain	Start	End	E-Value	Type
HOX	276	341	4.27e-12	SMART
low complexity region	388	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110906

SMART Domains

Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	275	340	4.27e-12	SMART
low complexity region	382	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110907

SMART Domains

Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	276	341	4.27e-12	SMART
low complexity region	383	396	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110908

SMART Domains

Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
HOX	276	341	4.27e-12	SMART
low complexity region	376	389	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118654

SMART Domains

Protein: ENSMUSP00000113915
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120995

SMART Domains

Protein: ENSMUSP00000113630
Gene: ENSMUSG00000027210

Domain	Start	End	E-Value	Type
low complexity region	39	52	N/A	INTRINSIC

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.5%
20x: 94.5%

Validation Efficiency

87% (26/30)

MGI Phenotype

FUNCTION: This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcriptional regulators and several members have been shown to be essential contributors to developmental programs. In mice, a knock-out of this gene leads to lethality at embryonic day 14, accompanied with hemorrhaging. Embryos lacking this gene show defects in tissues derived from the neural crest, suggesting a critical role of this gene during cranial and cardiac neural crest cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a null allele display early fetal lethality with hemorrhaging, persistent truncus arteriosis, absence of cardic valves and defects in other neural crest cell derived tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930556J24Rik	A	T	11: 3,888,178 (GRCm39)		probably null	Het
Acoxl	T	C	2: 127,928,264 (GRCm39)		probably benign	Het
Ahi1	G	C	10: 20,848,009 (GRCm39)	R472S	probably damaging	Het
Akap10	A	G	11: 61,763,846 (GRCm39)	L662P	possibly damaging	Het
Arhgef10	C	T	8: 14,978,925 (GRCm39)	T64M	possibly damaging	Het
Ccr4	C	T	9: 114,321,906 (GRCm39)	G53D	probably damaging	Het
Cdc25a	T	C	9: 109,713,176 (GRCm39)		probably benign	Het
Clec4n	A	C	6: 123,221,499 (GRCm39)	Q114H	probably damaging	Het
Cmya5	A	G	13: 93,210,983 (GRCm39)		probably benign	Het
Depdc1a	T	C	3: 159,228,184 (GRCm39)	V312A	probably damaging	Het
Ephb6	C	T	6: 41,594,219 (GRCm39)	P583L	probably damaging	Het
Klra8	A	T	6: 130,099,007 (GRCm39)	D185E	possibly damaging	Het
Or2t47	G	A	11: 58,442,348 (GRCm39)	T239I	probably damaging	Het
Pzp	C	T	6: 128,467,052 (GRCm39)	G1107D	probably damaging	Het
Ralgapa2	C	T	2: 146,188,731 (GRCm39)	W1350*	probably null	Het
Scand1	C	A	2: 156,153,865 (GRCm39)	R135L	probably damaging	Het
Spopl	A	T	2: 23,401,455 (GRCm39)	M351K	probably benign	Het
Tmed4	T	C	11: 6,223,727 (GRCm39)		probably benign	Het
Ube2e2	A	G	14: 18,630,297 (GRCm38)		probably null	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp51	GATGCAT	GAT	X: 151,791,227 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,031 (GRCm39)	D425E	probably damaging	Het

Other mutations in Meis2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Meis2	APN	2	115,699,274 (GRCm39)	missense	probably damaging	1.00
IGL00708:Meis2	APN	2	115,694,725 (GRCm39)	missense	probably benign	0.11
IGL01095:Meis2	APN	2	115,694,905 (GRCm39)	missense	probably benign
IGL02199:Meis2	APN	2	115,830,737 (GRCm39)	missense	probably benign	0.01
IGL02562:Meis2	APN	2	115,879,627 (GRCm39)	missense	probably damaging	1.00
IGL02902:Meis2	APN	2	115,893,804 (GRCm39)	missense	probably damaging	0.96
IGL03183:Meis2	APN	2	115,890,002 (GRCm39)	missense	probably damaging	0.98
IGL03205:Meis2	APN	2	115,694,731 (GRCm39)	missense	probably benign	0.08
R0369:Meis2	UTSW	2	115,893,897 (GRCm39)	missense	possibly damaging	0.82
R0410:Meis2	UTSW	2	115,694,709 (GRCm39)	makesense	probably null
R1465:Meis2	UTSW	2	115,889,151 (GRCm39)	missense	probably benign	0.03
R1465:Meis2	UTSW	2	115,889,151 (GRCm39)	missense	probably benign	0.03
R1548:Meis2	UTSW	2	115,889,183 (GRCm39)	missense	probably damaging	0.97
R1593:Meis2	UTSW	2	115,830,745 (GRCm39)	missense	probably damaging	1.00
R3835:Meis2	UTSW	2	115,752,228 (GRCm39)	missense	probably damaging	1.00
R4353:Meis2	UTSW	2	115,890,044 (GRCm39)	missense	probably damaging	0.99
R4756:Meis2	UTSW	2	115,830,686 (GRCm39)	missense	probably damaging	1.00
R4936:Meis2	UTSW	2	115,694,893 (GRCm39)	missense	probably benign
R5841:Meis2	UTSW	2	115,889,145 (GRCm39)	missense	probably benign
R5967:Meis2	UTSW	2	115,694,790 (GRCm39)	missense	probably benign	0.04
R6661:Meis2	UTSW	2	115,694,751 (GRCm39)	missense	probably damaging	0.97
R6781:Meis2	UTSW	2	115,879,636 (GRCm39)	missense	probably benign	0.20
R7239:Meis2	UTSW	2	115,889,484 (GRCm39)	splice site	probably null
R7606:Meis2	UTSW	2	115,893,801 (GRCm39)	missense	possibly damaging	0.93
R7919:Meis2	UTSW	2	115,697,788 (GRCm39)	missense	probably benign	0.01
R8134:Meis2	UTSW	2	115,697,369 (GRCm39)	missense	probably benign	0.22
R8797:Meis2	UTSW	2	115,694,986 (GRCm39)	missense	probably benign
R8881:Meis2	UTSW	2	115,889,116 (GRCm39)	missense	probably benign	0.16
R9102:Meis2	UTSW	2	115,694,760 (GRCm39)	missense	probably benign	0.26
R9153:Meis2	UTSW	2	115,697,756 (GRCm39)	missense	probably benign	0.10
R9497:Meis2	UTSW	2	115,694,724 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GGCTCTGTGCTGACATAGTCATTCC -3'
(R):5'- TCTGCAAACATTGGCAAGAATCTGC -3'

Sequencing Primer
(F):5'- CATAGTCATTCCAGGGTGGGTAG -3'
(R):5'- AGATATAAGATTTGCAGTGTCTGTTG -3'

Posted On

2013-04-16