Mutagenetix > Incidental Mutation

Incidental Mutation 'R9612:Lefty2'

724269

Institutional Source

Beutler Lab

Gene Symbol

Lefty2

Ensembl Gene

ENSMUSG00000066652

Gene Name

left-right determination factor 2

Synonyms

Leftb, Ebaf, 6030463A22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9612 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180720673-180726668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 180722286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 208 (L208Q)

Ref Sequence

ENSEMBL: ENSMUSP00000082952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085797]

AlphaFold

P57785

Predicted Effect

probably damaging
Transcript: ENSMUST00000085797
AA Change: L208Q

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082952
Gene: ENSMUSG00000066652
AA Change: L208Q

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	13	240	7.4e-33	PFAM
TGFB	265	356	6.35e-7	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This protein is also important in self-renewal and differentiation of mouse embryonic stem cells. Mice lacking a functional copy of this gene exhibit defects in axial and left-right patterning. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for one null allele exhibit embryonic lethality, defects in axial patterning, absent notochord, somites, head folds and heart, and defects yolk sac development. Mice homozygous for another allele exhibit postnatal lethality and left isomerism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,276,327 (GRCm39)	S677P	possibly damaging	Het
5730480H06Rik	A	G	5: 48,531,872 (GRCm39)	I67V	probably benign	Het
Adam15	T	A	3: 89,249,247 (GRCm39)	Y736F	probably damaging	Het
Adam29	A	T	8: 56,325,118 (GRCm39)	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,641,082 (GRCm39)	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,958,690 (GRCm39)	Y815C	probably damaging	Het
Ankar	T	A	1: 72,704,294 (GRCm39)	D876V	possibly damaging	Het
Atp6v1g2	G	A	17: 35,456,733 (GRCm39)	V106I	probably benign	Het
Bdp1	A	G	13: 100,214,370 (GRCm39)	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918 (GRCm39)	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,531,390 (GRCm39)	V112A	probably damaging	Het
Cage1	T	A	13: 38,216,351 (GRCm39)	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,535,577 (GRCm39)	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,865,404 (GRCm39)	G49V	probably damaging	Het
Cdk13	A	C	13: 17,926,440 (GRCm39)	F787V		Het
Cdk5r1	T	C	11: 80,368,480 (GRCm39)	V49A	probably benign	Het
Cdon	G	A	9: 35,398,201 (GRCm39)	V973I	probably damaging	Het
Cfap298	A	T	16: 90,724,275 (GRCm39)	M166K	probably benign	Het
Chd1l	T	A	3: 97,488,463 (GRCm39)	K518*	probably null	Het
Col24a1	A	G	3: 145,250,960 (GRCm39)	D1653G	probably benign	Het
Cstf3	G	T	2: 104,483,370 (GRCm39)	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,178,193 (GRCm39)	I1082T	probably damaging	Het
Dlec1	A	T	9: 118,956,533 (GRCm39)	I736F	probably damaging	Het
Dnah9	T	C	11: 65,818,475 (GRCm39)	N3288D	probably benign	Het
Dpcd	G	T	19: 45,560,422 (GRCm39)	E82*	probably null	Het
Ehbp1	T	C	11: 22,119,124 (GRCm39)	D182G	probably damaging	Het
Eif1ad13	A	G	12: 87,762,507 (GRCm39)	I76V	probably benign	Het
Evc2	G	T	5: 37,544,130 (GRCm39)	E626D	probably benign	Het
Evi5	T	C	5: 107,943,578 (GRCm39)	E589G	probably benign	Het
Exoc4	T	C	6: 33,226,161 (GRCm39)	I25T	probably benign	Het
Extl2	T	A	3: 115,821,145 (GRCm39)	*331R	probably null	Het
Fkbp8	G	A	8: 70,984,324 (GRCm39)	R225H	probably damaging	Het
Foxred2	A	T	15: 77,836,206 (GRCm39)	S384T	probably damaging	Het
Garre1	A	T	7: 33,947,656 (GRCm39)	C451S	probably damaging	Het
Glmn	T	C	5: 107,741,731 (GRCm39)	E18G	probably damaging	Het
Gm7489	A	C	15: 53,749,369 (GRCm39)	Q147P	unknown	Het
Gm7489	C	A	15: 53,749,368 (GRCm39)	Q147K	unknown	Het
Gm8005	T	A	14: 42,260,355 (GRCm39)	I94F		Het
Golgb1	G	A	16: 36,739,967 (GRCm39)	V2810M	probably benign	Het
Gpr21	T	C	2: 37,408,399 (GRCm39)	L315P	probably damaging	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc6	T	G	6: 57,629,017 (GRCm39)	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,496,317 (GRCm39)	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,516,703 (GRCm39)	M371V	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Klhdc4	A	G	8: 122,527,917 (GRCm39)	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Lingo2	T	C	4: 35,708,450 (GRCm39)	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,639,200 (GRCm39)	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,805,345 (GRCm39)	K389I	possibly damaging	Het
Megf8	A	T	7: 25,054,488 (GRCm39)	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp8	A	G	9: 7,560,608 (GRCm39)	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,953,408 (GRCm39)	I563N	probably damaging	Het
Mroh3	T	C	1: 136,118,713 (GRCm39)	T535A	probably benign	Het
Mroh9	A	G	1: 162,866,498 (GRCm39)	L715P	probably damaging	Het
Myh6	G	T	14: 55,201,054 (GRCm39)	A136E	probably benign	Het
Myom1	G	T	17: 71,412,475 (GRCm39)	E1231*	probably null	Het
Nod2	G	T	8: 89,397,101 (GRCm39)	C837F	probably benign	Het
Nos2	T	A	11: 78,839,984 (GRCm39)	W698R	probably damaging	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Oas1a	A	T	5: 121,040,028 (GRCm39)	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Opa1	T	C	16: 29,430,255 (GRCm39)	M394T		Het
Or1e1d-ps1	T	A	11: 73,819,375 (GRCm39)	D108E	possibly damaging	Het
Or5an6	A	T	19: 12,371,983 (GRCm39)	M119L	probably damaging	Het
Or5p66	A	G	7: 107,885,487 (GRCm39)	M282T	probably benign	Het
Or7g21	T	A	9: 19,032,760 (GRCm39)	S167T	probably benign	Het
Or7g29	A	G	9: 19,286,677 (GRCm39)	S167P	possibly damaging	Het
Oxct2a	T	A	4: 123,217,129 (GRCm39)	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,011,019 (GRCm39)	D313A	probably damaging	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Plppr4	T	A	3: 117,115,610 (GRCm39)	N749I	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pofut2	A	T	10: 77,101,763 (GRCm39)	M267L	probably benign	Het
Ppp1r42	T	A	1: 10,039,067 (GRCm39)	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,572,479 (GRCm39)	E37G	probably benign	Het
Ptpro	G	T	6: 137,391,318 (GRCm39)	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,652,343 (GRCm39)	F99L	probably benign	Het
Scn9a	T	A	2: 66,363,708 (GRCm39)	I857F	probably damaging	Het
Slf1	A	G	13: 77,197,204 (GRCm39)		probably null	Het
Smyd2	T	C	1: 189,612,983 (GRCm39)	*434W	probably null	Het
Spata31h1	T	A	10: 82,125,453 (GRCm39)	N2519I	possibly damaging	Het
Stk40	A	G	4: 126,030,650 (GRCm39)	D290G	probably damaging	Het
Tdo2	C	A	3: 81,879,001 (GRCm39)	W82C	probably damaging	Het
Tmem101	A	G	11: 102,044,194 (GRCm39)	V231A	probably damaging	Het
Tns2	G	A	15: 102,015,577 (GRCm39)	E160K	probably damaging	Het
Trim31	A	T	17: 37,212,551 (GRCm39)	D174V	probably benign	Het
Unc13d	A	T	11: 115,961,144 (GRCm39)	Y404*	probably null	Het
Ush2a	C	A	1: 188,092,063 (GRCm39)	Y531*	probably null	Het
Vapa	G	A	17: 65,889,736 (GRCm39)	P144S	probably benign	Het
Vmn1r212	C	T	13: 23,067,443 (GRCm39)	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,030,712 (GRCm39)	N846T	probably damaging	Het
Zfp811	A	G	17: 33,017,740 (GRCm39)	V100A	probably benign	Het
Zfp958	T	A	8: 4,678,298 (GRCm39)	C108S	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	Het

Other mutations in Lefty2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03181:Lefty2	APN	1	180,725,115 (GRCm39)	missense	probably damaging	0.97
R5585:Lefty2	UTSW	1	180,720,828 (GRCm39)	missense	possibly damaging	0.88
R5834:Lefty2	UTSW	1	180,720,716 (GRCm39)	start gained	probably benign
R6721:Lefty2	UTSW	1	180,722,166 (GRCm39)	missense	probably damaging	0.98
R8921:Lefty2	UTSW	1	180,725,043 (GRCm39)	missense	possibly damaging	0.95
R9010:Lefty2	UTSW	1	180,722,172 (GRCm39)	missense	probably damaging	0.99
R9215:Lefty2	UTSW	1	180,725,145 (GRCm39)	missense	probably benign
Z1088:Lefty2	UTSW	1	180,725,280 (GRCm39)	missense	probably damaging	0.99
Z1177:Lefty2	UTSW	1	180,722,343 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- CATCGACTCTAGGTAGGGGATG -3'
(R):5'- CTGGTACAAAATCTCGGCGC -3'

Sequencing Primer
(F):5'- ACAGACTCCTCCTTCAGGG -3'
(R):5'- AAAATCTCGGCGCGGCTG -3'

Posted On

2022-09-12