Mutagenetix > Incidental Mutation

Incidental Mutation 'R6528:Shox2'

543487

Institutional Source

Beutler Lab

Gene Symbol

Shox2

Ensembl Gene

ENSMUSG00000027833

Gene Name

SHOX homeobox 2

Synonyms

Og12x, Prx3, 6330543G17Rik

MMRRC Submission

044654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6528 (G1)

Quality Score

68.0074

Status

Validated

Chromosome

Chromosomal Location

66879060-66889104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66888618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 91 (R91L)

Ref Sequence

ENSEMBL: ENSMUSP00000029422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029422]

AlphaFold

P70390

Predicted Effect

probably benign
Transcript: ENSMUST00000029422
AA Change: R91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: R91L

Domain	Start	End	E-Value	Type
low complexity region	57	90	N/A	INTRINSIC
HOX	140	202	1.8e-28	SMART
low complexity region	258	273	N/A	INTRINSIC
Pfam:OAR	310	327	3.3e-10	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice display incomplete penetrance of embryonic lethality during organogenesis and incomplete clefting of the anterior part of the palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,596 (GRCm39)	R286H	possibly damaging	Het
Arhgap29	T	A	3: 121,808,351 (GRCm39)	N1176K	probably benign	Het
Cacfd1	T	G	2: 26,908,951 (GRCm39)	D97E	probably benign	Het
Ccnj	C	A	19: 40,820,529 (GRCm39)		probably null	Het
Chad	A	G	11: 94,456,450 (GRCm39)	Y176C	probably damaging	Het
Chd5	T	C	4: 152,441,133 (GRCm39)	L191P	probably damaging	Het
Cmtm1	T	C	8: 105,035,927 (GRCm39)	D190G	possibly damaging	Het
Cyp3a16	C	T	5: 145,377,241 (GRCm39)	A449T	probably damaging	Het
Eml5	T	C	12: 98,790,896 (GRCm39)	E1334G	probably benign	Het
Endou	C	T	15: 97,617,510 (GRCm39)	E147K	probably damaging	Het
Fbxo21	C	A	5: 118,138,421 (GRCm39)	H449N	probably benign	Het
Fkbp15	A	G	4: 62,250,507 (GRCm39)	I363T	probably damaging	Het
Gm12887	C	A	4: 121,472,834 (GRCm39)	G103C	probably damaging	Het
Gm14410	T	A	2: 176,885,301 (GRCm39)	H321L	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Irgm2	C	T	11: 58,110,878 (GRCm39)	P202S	probably benign	Het
Khsrp	G	A	17: 57,330,543 (GRCm39)	T551I	probably damaging	Het
Lpin2	T	A	17: 71,551,000 (GRCm39)	I720N	probably damaging	Het
Lypd8	G	A	11: 58,275,439 (GRCm39)	G58E	probably damaging	Het
Mdn1	G	T	4: 32,713,780 (GRCm39)	L1952F	probably damaging	Het
Med13	G	A	11: 86,189,780 (GRCm39)	P1043L	probably damaging	Het
Mycbp2	T	C	14: 103,380,317 (GRCm39)	T3832A	probably damaging	Het
Nrxn3	C	T	12: 89,479,819 (GRCm39)	R654C	probably damaging	Het
Or10a3m	T	C	7: 108,312,638 (GRCm39)	L14P	probably damaging	Het
Or12j3	G	T	7: 139,953,354 (GRCm39)	H56Q	possibly damaging	Het
Or13a22	A	G	7: 140,072,964 (GRCm39)	M138V	probably damaging	Het
Or8k35	T	C	2: 86,424,809 (GRCm39)	D121G	probably damaging	Het
Pcdhb6	A	G	18: 37,467,556 (GRCm39)	D159G	probably damaging	Het
Plec	T	C	15: 76,058,630 (GRCm39)	E3759G	probably damaging	Het
Plekho1	C	T	3: 95,896,633 (GRCm39)	D236N	probably damaging	Het
Pnma1	T	A	12: 84,194,197 (GRCm39)	I169F	probably benign	Het
Ppl	T	A	16: 4,905,480 (GRCm39)	H1605L	probably benign	Het
Ppp2r2b	T	A	18: 42,821,403 (GRCm39)	M252L	probably benign	Het
Pramel29	A	G	4: 143,935,381 (GRCm39)	V120A	probably damaging	Het
Prickle4	T	A	17: 48,000,258 (GRCm39)	R246*	probably null	Het
Rad50	G	A	11: 53,543,109 (GRCm39)	T1235I	probably damaging	Het
Ranbp10	T	C	8: 106,506,588 (GRCm39)	N244S	probably damaging	Het
Robo4	T	C	9: 37,315,664 (GRCm39)	S306P	possibly damaging	Het
Tbx5	A	G	5: 120,021,176 (GRCm39)	E394G	probably damaging	Het
Tcl1b5	A	G	12: 105,145,258 (GRCm39)	N74S	probably benign	Het
Tgif1	G	A	17: 71,153,555 (GRCm39)		probably benign	Het
Tmem128	T	A	5: 38,423,843 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,956 (GRCm39)	S511P	probably damaging	Het
Trps1	A	G	15: 50,685,823 (GRCm39)	I114T	probably benign	Het
Ttll8	G	T	15: 88,798,441 (GRCm39)	Q765K	probably benign	Het
Usp17ld	A	T	7: 102,899,962 (GRCm39)	D323E	probably damaging	Het
Vmn1r232	G	A	17: 21,134,309 (GRCm39)	T97I	probably benign	Het
Vmn2r28	T	A	7: 5,493,684 (GRCm39)	R87S	probably benign	Het
Vps26b	C	G	9: 26,921,762 (GRCm39)	E254D	probably benign	Het
Vps8	C	A	16: 21,372,875 (GRCm39)	Y113*	probably null	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Xcr1	A	T	9: 123,685,048 (GRCm39)	I238N	probably damaging	Het
Zar1l	T	A	5: 150,430,595 (GRCm39)	E272V	probably damaging	Het
Zfp451	A	G	1: 33,816,862 (GRCm39)	Y146H	probably damaging	Het
Zfp54	G	T	17: 21,653,736 (GRCm39)	E77*	probably null	Het

Other mutations in Shox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Shox2	APN	3	66,888,774 (GRCm39)	missense	possibly damaging	0.49
IGL00813:Shox2	APN	3	66,882,777 (GRCm39)	missense	probably damaging	1.00
IGL01534:Shox2	APN	3	66,885,696 (GRCm39)	missense	probably benign	0.01
IGL01583:Shox2	APN	3	66,881,104 (GRCm39)	unclassified	probably benign
R0306:Shox2	UTSW	3	66,881,167 (GRCm39)	missense	probably damaging	0.98
R0374:Shox2	UTSW	3	66,881,184 (GRCm39)	missense	probably damaging	0.98
R0625:Shox2	UTSW	3	66,888,877 (GRCm39)	critical splice donor site	probably null
R0774:Shox2	UTSW	3	66,881,144 (GRCm39)	missense	probably damaging	1.00
R1102:Shox2	UTSW	3	66,885,628 (GRCm39)	missense	probably damaging	1.00
R1192:Shox2	UTSW	3	66,881,243 (GRCm39)	nonsense	probably null
R2354:Shox2	UTSW	3	66,888,822 (GRCm39)	missense	possibly damaging	0.94
R2518:Shox2	UTSW	3	66,885,692 (GRCm39)	missense	possibly damaging	0.83
R4163:Shox2	UTSW	3	66,881,104 (GRCm39)	unclassified	probably benign
R4976:Shox2	UTSW	3	66,881,008 (GRCm39)	unclassified	probably benign
R5423:Shox2	UTSW	3	66,881,087 (GRCm39)	unclassified	probably benign
R5493:Shox2	UTSW	3	66,888,796 (GRCm39)	missense	probably damaging	1.00
RF020:Shox2	UTSW	3	66,881,146 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCGGTATCTCCCAAAGCTG -3'
(R):5'- AGAAGGAGGCCATCACGTAC -3'

Sequencing Primer
(F):5'- CAGGGCCCTCTGCGATG -3'
(R):5'- GCCATCACGTACCGGGAG -3'

Posted On

2019-01-24