Mutagenetix > Incidental Mutation

Incidental Mutation 'R2354:Shox2'

246817

Institutional Source

Beutler Lab

Gene Symbol

Shox2

Ensembl Gene

ENSMUSG00000027833

Gene Name

SHOX homeobox 2

Synonyms

Og12x, Prx3, 6330543G17Rik

MMRRC Submission

040336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2354 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

66879060-66889104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66888822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 23 (I23T)

Ref Sequence

ENSEMBL: ENSMUSP00000029422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029422] [ENSMUST00000046542] [ENSMUST00000065047] [ENSMUST00000065074] [ENSMUST00000160504] [ENSMUST00000161726] [ENSMUST00000162036] [ENSMUST00000162693] [ENSMUST00000162060] [ENSMUST00000162362] [ENSMUST00000162439] [ENSMUST00000195261]

AlphaFold

P70390

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029422
AA Change: I23T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029422
Gene: ENSMUSG00000027833
AA Change: I23T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046542

SMART Domains

Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	116	N/A	INTRINSIC
coiled coil region	138	191	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065047

SMART Domains

Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	109	N/A	INTRINSIC
coiled coil region	122	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000065074

SMART Domains

Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160504

SMART Domains

Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161726

SMART Domains

Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162036

SMART Domains

Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162620

Predicted Effect

probably benign
Transcript: ENSMUST00000162693

SMART Domains

Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	88	N/A	INTRINSIC
low complexity region	96	157	N/A	INTRINSIC
coiled coil region	178	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162060

SMART Domains

Protein: ENSMUSP00000125031
Gene: ENSMUSG00000027833

Domain	Start	End	E-Value	Type
HOX	11	73	1.8e-28	SMART
low complexity region	117	132	N/A	INTRINSIC
Pfam:OAR	167	187	9.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162362

SMART Domains

Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544

Domain	Start	End	E-Value	Type
low complexity region	3	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162098

SMART Domains

Protein: ENSMUSP00000123838
Gene: ENSMUSG00000027833

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
HOX	61	123	1.8e-28	SMART
low complexity region	167	182	N/A	INTRINSIC
Pfam:OAR	219	236	1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162439

SMART Domains

Protein: ENSMUSP00000124924
Gene: ENSMUSG00000027833

Domain	Start	End	E-Value	Type
HOX	11	73	1.8e-28	SMART
low complexity region	117	132	N/A	INTRINSIC
Pfam:OAR	167	187	9.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195261

SMART Domains

Protein: ENSMUSP00000141625
Gene: ENSMUSG00000027833

Domain	Start	End	E-Value	Type
HOX	11	73	9e-31	SMART

Meta Mutation Damage Score

0.1796

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

97% (34/35)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bpifb9b	C	T	2: 154,153,662 (GRCm39)	L243F	probably benign	Het
Cd226	A	T	18: 89,265,107 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cep295	A	G	9: 15,246,080 (GRCm39)	I792T	possibly damaging	Het
Cfap46	T	C	7: 139,240,962 (GRCm39)	Y469C	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
D630045J12Rik	G	A	6: 38,135,026 (GRCm39)	P1385S	possibly damaging	Het
Ddb1	A	T	19: 10,584,337 (GRCm39)	M64L	probably benign	Het
Dyrk1b	G	A	7: 27,884,797 (GRCm39)	R404Q	possibly damaging	Het
Gal3st2b	A	G	1: 93,867,508 (GRCm39)	T52A	probably damaging	Het
Galk2	C	A	2: 125,773,193 (GRCm39)	S208R	probably benign	Het
Hap1	A	T	11: 100,245,541 (GRCm39)	I141N	probably damaging	Het
Hif3a	T	C	7: 16,775,030 (GRCm39)	S523G	probably damaging	Het
Kirrel1	C	T	3: 86,995,792 (GRCm39)	V381I	probably damaging	Het
Lmbrd1	T	C	1: 24,724,622 (GRCm39)	S69P	probably damaging	Het
Lrriq1	C	T	10: 103,025,848 (GRCm39)	V925M	probably damaging	Het
Mmp16	A	G	4: 18,112,001 (GRCm39)	Y459C	probably damaging	Het
Mtr	A	G	13: 12,203,043 (GRCm39)		probably benign	Het
Nadk2	T	A	15: 9,085,862 (GRCm39)	I167N	probably damaging	Het
Neo1	A	G	9: 58,892,917 (GRCm39)	F242L	probably benign	Het
Pitpnm2	A	T	5: 124,260,982 (GRCm39)	V1010E	probably damaging	Het
Prp2rt	G	A	13: 97,235,309 (GRCm39)	T146I	probably damaging	Het
Semp2l2b	G	T	10: 21,943,155 (GRCm39)	T275K	probably benign	Het
Slc5a12	T	C	2: 110,439,777 (GRCm39)	V141A	probably damaging	Het
Sstr5	A	G	17: 25,710,875 (GRCm39)	I118T	probably benign	Het
Taar4	A	G	10: 23,836,912 (GRCm39)	N174S	probably damaging	Het
Tpcn2	C	A	7: 144,810,955 (GRCm39)	G581W	probably damaging	Het
Umod	C	T	7: 119,065,416 (GRCm39)	V538M	probably damaging	Het
Vmn2r44	T	G	7: 8,373,639 (GRCm39)	S517R	probably damaging	Het
Zc3h12d	G	T	10: 7,743,702 (GRCm39)	V491L	probably benign	Het
Zfp358	A	T	8: 3,545,454 (GRCm39)	H12L	possibly damaging	Het
Zkscan7	A	G	9: 122,723,892 (GRCm39)	D287G	probably benign	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
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
R6528:Shox2	UTSW	3	66,888,618 (GRCm39)	missense	probably benign	0.00
RF020:Shox2	UTSW	3	66,881,146 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCGGTATCTCCCAAAGC -3'
(R):5'- CTGCCCCATTGATGTGTTATTATTG -3'

Sequencing Primer
(F):5'- ATGTCCAGCTCCCGGAC -3'
(R):5'- TTATTGGGGGGGCTGGAGCAGTAAA -3'

Posted On

2014-10-30