Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Meis2'

632147

Institutional Source

Beutler Lab

Gene Symbol

Meis2

Ensembl Gene

ENSMUSG00000027210

Gene Name

Meis homeobox 2

Synonyms

Stra10, Meis2, A430109D20Rik, Mrg1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115863064-116065839 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 115866888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 388 (M388I)

Ref Sequence

ENSEMBL: ENSMUSP00000106532 (fasta)

Gene Model

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

AlphaFold

P97367

Predicted Effect

probably benign
Transcript: ENSMUST00000028639

SMART Domains

Protein: ENSMUSP00000028639
Gene: ENSMUSG00000027210

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
AA Change: M380I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073898
Gene: ENSMUSG00000027210
AA Change: M380I

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

SMART Domains

Protein: ENSMUSP00000099597
Gene: ENSMUSG00000027210

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
AA Change: M387I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106531
Gene: ENSMUSG00000027210
AA Change: M387I

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
AA Change: M388I

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106532
Gene: ENSMUSG00000027210
AA Change: M388I

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
AA Change: M381I

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106533
Gene: ENSMUSG00000027210
AA Change: M381I

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Meis2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Meis2	APN	2	115868793	missense	probably damaging	1.00
IGL00708:Meis2	APN	2	115864244	missense	probably benign	0.11
IGL01095:Meis2	APN	2	115864424	missense	probably benign
IGL02199:Meis2	APN	2	116000256	missense	probably benign	0.01
IGL02562:Meis2	APN	2	116049146	missense	probably damaging	1.00
IGL02902:Meis2	APN	2	116063323	missense	probably damaging	0.96
IGL03183:Meis2	APN	2	116059521	missense	probably damaging	0.98
IGL03205:Meis2	APN	2	115864250	missense	probably benign	0.08
P4748:Meis2	UTSW	2	115864480	missense	probably benign	0.03
R0369:Meis2	UTSW	2	116063416	missense	possibly damaging	0.82
R0410:Meis2	UTSW	2	115864228	makesense	probably null
R1465:Meis2	UTSW	2	116058670	missense	probably benign	0.03
R1465:Meis2	UTSW	2	116058670	missense	probably benign	0.03
R1548:Meis2	UTSW	2	116058702	missense	probably damaging	0.97
R1593:Meis2	UTSW	2	116000264	missense	probably damaging	1.00
R3835:Meis2	UTSW	2	115921747	missense	probably damaging	1.00
R4353:Meis2	UTSW	2	116059563	missense	probably damaging	0.99
R4756:Meis2	UTSW	2	116000205	missense	probably damaging	1.00
R4936:Meis2	UTSW	2	115864412	missense	probably benign
R5841:Meis2	UTSW	2	116058664	missense	probably benign
R5967:Meis2	UTSW	2	115864309	missense	probably benign	0.04
R6661:Meis2	UTSW	2	115864270	missense	probably damaging	0.97
R6781:Meis2	UTSW	2	116049155	missense	probably benign	0.20
R7239:Meis2	UTSW	2	116059003	splice site	probably null
R7606:Meis2	UTSW	2	116063320	missense	possibly damaging	0.93
R7919:Meis2	UTSW	2	115867307	missense	probably benign	0.01
R8797:Meis2	UTSW	2	115864505	missense	probably benign
R8881:Meis2	UTSW	2	116058635	missense	probably benign	0.16
R9102:Meis2	UTSW	2	115864279	missense	probably benign	0.26
R9153:Meis2	UTSW	2	115867275	missense	probably benign	0.10
R9497:Meis2	UTSW	2	115864243	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAGGCATGCAGTTATGGGC -3'
(R):5'- GGACAGATTTTGCAACAGTTACC -3'

Sequencing Primer
(F):5'- CAGTTATGGGCAAGGAAAAATAAAAC -3'
(R):5'- GCAACAGTTACCATTTGACTCTG -3'

Posted On

2020-06-30