Mutagenetix > Incidental Mutation

Incidental Mutation 'R4936:Meis2'

380346

Institutional Source

Beutler Lab

Gene Symbol

Meis2

Ensembl Gene

ENSMUSG00000027210

Gene Name

Meis homeobox 2

Synonyms

Mrg1, Meis2, A430109D20Rik, Stra10

MMRRC Submission

042536-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

R4936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115693545-115896320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115694893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 410 (T410A)

Ref Sequence

ENSEMBL: ENSMUSP00000099597 (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: T417A

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

SMART Domains

Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210
AA Change: T417A

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: T410A

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

SMART Domains

Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210
AA Change: T410A

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: ENSMUST00000151279

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177493

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,212 (GRCm39)	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,921,245 (GRCm39)	M775K	probably damaging	Het
Actn1	T	G	12: 80,219,772 (GRCm39)	I700L	probably benign	Het
Adam5	T	C	8: 25,276,287 (GRCm39)	Y460C	probably damaging	Het
Akna	C	T	4: 63,313,502 (GRCm39)	G207E	probably damaging	Het
Ank2	T	A	3: 126,748,688 (GRCm39)	H527L	possibly damaging	Het
Anks1	C	A	17: 28,207,779 (GRCm39)	N383K	probably damaging	Het
Apba3	C	T	10: 81,105,204 (GRCm39)		probably null	Het
Atp9b	C	A	18: 80,779,308 (GRCm39)	V1121F	possibly damaging	Het
Bsn	T	C	9: 107,988,960 (GRCm39)	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,997,799 (GRCm39)	D266G	probably damaging	Het
Cep55	A	G	19: 38,060,202 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckb	T	C	12: 111,637,664 (GRCm39)	K156E	probably benign	Het
Cln3	T	A	7: 126,174,393 (GRCm39)	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,227,796 (GRCm39)	F479S	probably damaging	Het
Col1a1	A	G	11: 94,837,958 (GRCm39)	D826G	unknown	Het
Cyp27a1	T	C	1: 74,774,564 (GRCm39)	V194A	probably benign	Het
Dis3l2	C	T	1: 86,971,890 (GRCm39)	P643S	probably benign	Het
Dpf3	T	C	12: 83,378,740 (GRCm39)	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,350,241 (GRCm39)	G27D	probably benign	Het
Eif4a1	T	G	11: 69,563,251 (GRCm39)		probably benign	Het
Espl1	A	T	15: 102,213,372 (GRCm39)	D566V	probably damaging	Het
Ext2	T	A	2: 93,644,024 (GRCm39)	R86*	probably null	Het
Fasn	A	T	11: 120,706,911 (GRCm39)	F914I	probably damaging	Het
Fbf1	A	G	11: 116,043,378 (GRCm39)	L477P	probably benign	Het
Fsd1	A	T	17: 56,303,452 (GRCm39)	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,815,384 (GRCm39)	S3706T	probably benign	Het
Gabra5	A	T	7: 57,058,547 (GRCm39)	N400K	probably benign	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gli2	A	G	1: 118,763,870 (GRCm39)	V1427A	probably benign	Het
Gm7334	A	T	17: 51,005,855 (GRCm39)	Y47F	probably damaging	Het
Gm8674	T	G	13: 50,054,791 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,896,039 (GRCm39)	T377K	probably benign	Het
Gp9	T	A	6: 87,756,229 (GRCm39)	D81E	probably benign	Het
Il5ra	T	A	6: 106,715,123 (GRCm39)	I212F	possibly damaging	Het
Klhl18	G	T	9: 110,258,029 (GRCm39)	N470K	possibly damaging	Het
Lfng	G	T	5: 140,598,150 (GRCm39)		probably null	Het
Lpo	A	G	11: 87,701,166 (GRCm39)	I430T	probably benign	Het
Lrrc31	C	T	3: 30,743,417 (GRCm39)	D183N	probably damaging	Het
Myo6	A	G	9: 80,214,963 (GRCm39)	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,146,803 (GRCm39)	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,319,743 (GRCm39)	V251M	probably damaging	Het
Nmbr	C	A	10: 14,642,730 (GRCm39)	H96Q	probably damaging	Het
Nop14	C	T	5: 34,809,737 (GRCm39)	R256H	probably damaging	Het
Nqo2	T	A	13: 34,165,501 (GRCm39)	Y133N	probably damaging	Het
Or1f12	T	C	13: 21,721,357 (GRCm39)	I273V	probably benign	Het
Or5w20	A	G	2: 87,727,157 (GRCm39)	I213V	probably benign	Het
Pbld2	C	A	10: 62,888,017 (GRCm39)	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,475,202 (GRCm39)	G113*	probably null	Het
Pcdhb7	G	T	18: 37,475,203 (GRCm39)	G113V	probably damaging	Het
Pdgfra	A	T	5: 75,355,687 (GRCm39)	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,332,881 (GRCm39)		probably null	Het
Prdm8	G	T	5: 98,332,882 (GRCm39)		probably null	Het
Prkg1	T	C	19: 30,563,775 (GRCm39)	Y479C	probably benign	Het
Pudp	T	C	18: 50,701,539 (GRCm39)	T65A	probably benign	Het
Rbbp6	C	T	7: 122,598,926 (GRCm39)		probably benign	Het
Rcc1	C	G	4: 132,063,046 (GRCm39)	V187L	probably damaging	Het
Rims2	T	A	15: 39,301,124 (GRCm39)	M285K	probably damaging	Het
Rtkn2	T	C	10: 67,877,745 (GRCm39)	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,866 (GRCm39)	S169R	probably damaging	Het
Sardh	T	C	2: 27,118,253 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,584 (GRCm39)	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,559,191 (GRCm39)	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,070,864 (GRCm39)	R408G	probably damaging	Het
Slc44a5	T	G	3: 153,959,353 (GRCm39)	I348S	probably damaging	Het
Slc8a2	A	T	7: 15,868,100 (GRCm39)	K111*	probably null	Het
Smc5	A	G	19: 23,211,367 (GRCm39)	V589A	probably damaging	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,605,882 (GRCm39)	M541T	probably benign	Het
Tie1	T	A	4: 118,341,968 (GRCm39)		silent	Het
Tln1	A	G	4: 43,547,522 (GRCm39)	F813S	possibly damaging	Het
Tnrc18	A	T	5: 142,751,732 (GRCm39)	L1191*	probably null	Het
Tubb2a	A	C	13: 34,259,240 (GRCm39)	Y183*	probably null	Het
Ubr4	T	A	4: 139,123,877 (GRCm39)	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,524,327 (GRCm39)	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,647,494 (GRCm39)	S624R	probably benign	Het
Wwox	G	A	8: 115,433,098 (GRCm39)	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804 (GRCm39)	K546E	probably damaging	Het
Xirp2	T	A	2: 67,340,163 (GRCm39)	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,577,589 (GRCm39)	I1175V	probably benign	Het
Zfp646	T	A	7: 127,480,933 (GRCm39)	C1037S	possibly damaging	Het
Zfp786	A	T	6: 47,798,202 (GRCm39)	C245*	probably null	Het
Zfp827	T	C	8: 79,787,812 (GRCm39)	V326A	probably benign	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
P4748:Meis2	UTSW	2	115,694,961 (GRCm39)	missense	probably benign	0.03
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
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'- GAATGTCCATAACCTGTCCGCC -3'
(R):5'- CATTGGCAAGAATCTGCAGC -3'

Sequencing Primer
(F):5'- TAACCTGTCCGCCAACATTG -3'
(R):5'- GGCAAGAATCTGCAGCTAAATTTAG -3'

Posted On

2016-04-15