Mutagenetix > Incidental Mutation

Incidental Mutation 'R5747:Gbx2'

445805

Institutional Source

Beutler Lab

Gene Symbol

Gbx2

Ensembl Gene

ENSMUSG00000034486

Gene Name

gastrulation brain homeobox 2

Synonyms

MMoxA, Stra7, Gbx-2

MMRRC Submission

043354-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89855684-89858898 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89856437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 318 (S318P)

Ref Sequence

ENSEMBL: ENSMUSP00000048508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036954]

AlphaFold

P48031

Predicted Effect

probably damaging
Transcript: ENSMUST00000036954
AA Change: S318P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048508
Gene: ENSMUSG00000034486
AA Change: S318P

Domain	Start	End	E-Value	Type
low complexity region	56	82	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
HOX	247	309	7.58e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189763

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with vascular, neurological, skeletal, and craniofacial defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	T	1: 25,865,643 (GRCm39)	Y67N	probably damaging	Het
Akap8l	T	C	17: 32,564,352 (GRCm39)	T12A	probably damaging	Het
Anapc1	A	G	2: 128,466,836 (GRCm39)	V1620A	probably benign	Het
Ank2	A	G	3: 126,735,400 (GRCm39)		probably benign	Het
Ankrd34c	C	T	9: 89,611,814 (GRCm39)	V176M	possibly damaging	Het
Arhgap39	C	T	15: 76,625,735 (GRCm39)	D190N	possibly damaging	Het
Cbl	A	G	9: 44,112,416 (GRCm39)	L93P	probably damaging	Het
Crebl2	C	T	6: 134,828,103 (GRCm39)	L92F	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dzip1l	T	A	9: 99,521,862 (GRCm39)		probably null	Het
Echs1	T	C	7: 139,691,725 (GRCm39)		probably benign	Het
Eif1ad16	C	T	12: 87,985,366 (GRCm39)	C59Y	possibly damaging	Het
Epha4	A	G	1: 77,483,520 (GRCm39)	I163T	probably damaging	Het
Fdft1	A	G	14: 63,384,288 (GRCm39)	S388P	probably damaging	Het
Gkn1	T	A	6: 87,323,319 (GRCm39)	T165S	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm5093	T	G	17: 46,750,916 (GRCm39)	E37A	possibly damaging	Het
Gm527	A	T	12: 64,967,620 (GRCm39)	N14I	probably damaging	Het
Gnaz	C	T	10: 74,827,235 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,399,870 (GRCm39)	T287A	probably benign	Het
Gtf2h4	T	C	17: 35,981,273 (GRCm39)	Y220C	possibly damaging	Het
Igkv8-28	T	C	6: 70,121,141 (GRCm39)	E2G	probably benign	Het
Itgbl1	T	A	14: 124,209,576 (GRCm39)	Y318*	probably null	Het
Kcnh5	T	C	12: 74,945,194 (GRCm39)	E685G	probably benign	Het
Kctd18	A	T	1: 58,001,183 (GRCm39)		probably benign	Het
Ldhal6b	A	C	17: 5,468,094 (GRCm39)	V280G	probably damaging	Het
Ldhd	T	C	8: 112,355,703 (GRCm39)	T182A	probably damaging	Het
Lman2l	T	C	1: 36,464,038 (GRCm39)	D272G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,904 (GRCm39)	T76A	probably benign	Het
Map3k3	A	G	11: 106,041,236 (GRCm39)	T402A	probably benign	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Mob4	A	G	1: 55,187,737 (GRCm39)	M68V	probably damaging	Het
Or1j15	A	T	2: 36,458,979 (GRCm39)	Y123F	probably damaging	Het
Rassf8	A	G	6: 145,761,541 (GRCm39)	E289G	probably benign	Het
Rnf17	T	C	14: 56,703,276 (GRCm39)		probably null	Het
Rp9	A	G	9: 22,359,960 (GRCm39)		probably benign	Het
Rrm2b	T	C	15: 37,927,634 (GRCm39)	Q92R	probably benign	Het
Sema6d	C	T	2: 124,506,867 (GRCm39)	P879S	probably damaging	Het
Slc27a2	T	A	2: 126,406,658 (GRCm39)	M114K	probably benign	Het
Slc4a5	T	A	6: 83,248,011 (GRCm39)	Y521N	probably damaging	Het
Slc6a4	A	T	11: 76,901,337 (GRCm39)	N24I	probably damaging	Het
Spata13	T	A	14: 60,984,952 (GRCm39)	D815E	probably benign	Het
Spocd1	A	G	4: 129,848,738 (GRCm39)	D656G	probably damaging	Het
Susd1	T	A	4: 59,424,108 (GRCm39)	N39I	probably damaging	Het
Vps13d	G	A	4: 144,894,853 (GRCm39)	T417I	probably benign	Het
Wdr31	C	T	4: 62,381,637 (GRCm39)	V65I	probably damaging	Het
Zfp783	T	C	6: 47,925,829 (GRCm39)		probably benign	Het

Other mutations in Gbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Gbx2	APN	1	89,856,559 (GRCm39)	missense	probably damaging	1.00
IGL01804:Gbx2	APN	1	89,856,703 (GRCm39)	missense	probably benign	0.00
IGL02345:Gbx2	APN	1	89,856,698 (GRCm39)	missense	probably benign	0.00
IGL02370:Gbx2	APN	1	89,856,871 (GRCm39)	splice site	probably benign
IGL02957:Gbx2	APN	1	89,858,375 (GRCm39)	missense	probably benign	0.02
IGL02959:Gbx2	APN	1	89,856,517 (GRCm39)	missense	probably damaging	1.00
R2280:Gbx2	UTSW	1	89,858,359 (GRCm39)	missense	probably damaging	1.00
R2405:Gbx2	UTSW	1	89,858,630 (GRCm39)	start gained	probably benign
R2860:Gbx2	UTSW	1	89,856,853 (GRCm39)	missense	probably damaging	0.97
R2861:Gbx2	UTSW	1	89,856,853 (GRCm39)	missense	probably damaging	0.97
R5384:Gbx2	UTSW	1	89,856,635 (GRCm39)	missense	probably damaging	1.00
R5587:Gbx2	UTSW	1	89,860,844 (GRCm39)	unclassified	probably benign
R5956:Gbx2	UTSW	1	89,860,908 (GRCm39)	unclassified	probably benign
R6053:Gbx2	UTSW	1	89,858,159 (GRCm39)	missense	probably benign	0.00
R6633:Gbx2	UTSW	1	89,856,442 (GRCm39)	frame shift	probably null
R7479:Gbx2	UTSW	1	89,858,373 (GRCm39)	missense	probably benign	0.02
R7505:Gbx2	UTSW	1	89,856,455 (GRCm39)	missense	probably benign	0.26
R7768:Gbx2	UTSW	1	89,856,706 (GRCm39)	missense	probably benign	0.09
R8184:Gbx2	UTSW	1	89,856,550 (GRCm39)	missense	probably damaging	1.00
R8998:Gbx2	UTSW	1	89,856,745 (GRCm39)	missense	possibly damaging	0.79
R9599:Gbx2	UTSW	1	89,856,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAACAGTGGAGTCTGACACG -3'
(R):5'- GCTCATAAGGAAGAAGACCCCG -3'

Sequencing Primer
(F):5'- AGTCTGACACGGGTTCCTTCAG -3'
(R):5'- TGCCTTCACCAGCGAACAG -3'

Posted On

2016-11-21