Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Smo'

295859

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smo

Ensembl Gene

ENSMUSG00000001761

Gene Name

smoothened, frizzled class receptor

Synonyms

E130215L21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

29735503-29761365 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 29758481 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 542 (T542P)

Ref Sequence

ENSEMBL: ENSMUSP00000001812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001812]

AlphaFold

P56726

Predicted Effect

probably damaging
Transcript: ENSMUST00000001812
AA Change: T542P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: T542P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
FRI	73	187	5.48e-49	SMART
Frizzled	224	559	2.82e-148	SMART
low complexity region	641	652	N/A	INTRINSIC
low complexity region	671	684	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
PHENOTYPE: Both an ENU-induced mutation and a null mutation are midgestation lethal. Observed defects include failure of neural tube closure and heart and gut defects. Conditional knockouts in chondrocytes and dental epithelium result in short long bones and dentalepithelium derivative defects, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553 (GRCm38)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604 (GRCm38)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943 (GRCm38)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613 (GRCm38)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293 (GRCm38)	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495 (GRCm38)	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243 (GRCm38)		probably benign	Het
Csn1s1	C	T	5: 87,677,594 (GRCm38)		probably benign	Het
Cul9	G	T	17: 46,540,376 (GRCm38)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705 (GRCm38)	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363 (GRCm38)	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391 (GRCm38)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm38)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,685 (GRCm38)	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761 (GRCm38)	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678 (GRCm38)		probably benign	Het
Hsd17b4	T	C	18: 50,155,153 (GRCm38)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946 (GRCm38)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687 (GRCm38)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928 (GRCm38)	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201 (GRCm38)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644 (GRCm38)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558 (GRCm38)		probably benign	Het
Mmp20	A	G	9: 7,654,041 (GRCm38)	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655 (GRCm38)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631 (GRCm38)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043 (GRCm38)		probably benign	Het
Ocrl	G	A	X: 47,933,438 (GRCm38)	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192 (GRCm38)	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804 (GRCm38)	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168 (GRCm38)	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002 (GRCm38)		probably null	Het
Parp8	T	C	13: 116,862,302 (GRCm38)		probably benign	Het
Pcdhb6	A	G	18: 37,335,454 (GRCm38)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376 (GRCm38)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094 (GRCm38)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663 (GRCm38)	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383 (GRCm38)		probably benign	Het
Pmaip1	A	G	18: 66,463,299 (GRCm38)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666 (GRCm38)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407 (GRCm38)	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484 (GRCm38)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144 (GRCm38)	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003 (GRCm38)	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879 (GRCm38)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726 (GRCm38)	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425 (GRCm38)		probably null	Het
Sipa1l1	T	A	12: 82,425,094 (GRCm38)	Y1283N	probably damaging	Het
Slc22a23	T	A	13: 34,344,485 (GRCm38)	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400 (GRCm38)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088 (GRCm38)	H691L	probably damaging	Het
Spats2	T	A	15: 99,173,448 (GRCm38)	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662 (GRCm38)	V704L	probably benign	Het
St5	C	A	7: 109,556,235 (GRCm38)	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492 (GRCm38)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418 (GRCm38)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561 (GRCm38)	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654 (GRCm38)	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823 (GRCm38)		probably benign	Het
Vmn1r8	G	T	6: 57,036,571 (GRCm38)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856 (GRCm38)	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431 (GRCm38)		probably benign	Het
Wfdc1	T	G	8: 119,680,170 (GRCm38)	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794 (GRCm38)	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395 (GRCm38)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992 (GRCm38)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042 (GRCm38)	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630 (GRCm38)	C731S	possibly damaging	Het

Other mutations in Smo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Smo	APN	6	29,758,894 (GRCm38)	nonsense	probably null
IGL01969:Smo	APN	6	29,755,172 (GRCm38)	critical splice acceptor site	probably null
IGL02078:Smo	APN	6	29,754,708 (GRCm38)	missense	possibly damaging	0.46
IGL02248:Smo	APN	6	29,757,292 (GRCm38)	missense	possibly damaging	0.69
IGL03159:Smo	APN	6	29,758,505 (GRCm38)	missense	probably benign	0.00
knobby	UTSW	6	29,736,174 (GRCm38)	missense	probably benign
R0548:Smo	UTSW	6	29,759,586 (GRCm38)	missense	possibly damaging	0.45
R0606:Smo	UTSW	6	29,753,604 (GRCm38)	missense	possibly damaging	0.69
R1164:Smo	UTSW	6	29,754,719 (GRCm38)	missense	probably benign	0.18
R1438:Smo	UTSW	6	29,755,483 (GRCm38)	missense	possibly damaging	0.89
R1900:Smo	UTSW	6	29,736,056 (GRCm38)	missense	unknown
R2022:Smo	UTSW	6	29,754,716 (GRCm38)	missense	possibly damaging	0.87
R2023:Smo	UTSW	6	29,754,716 (GRCm38)	missense	possibly damaging	0.87
R2129:Smo	UTSW	6	29,757,314 (GRCm38)	missense	probably damaging	1.00
R4033:Smo	UTSW	6	29,759,918 (GRCm38)	missense	probably damaging	0.98
R4795:Smo	UTSW	6	29,755,574 (GRCm38)	missense	probably damaging	0.99
R4878:Smo	UTSW	6	29,753,571 (GRCm38)	missense	probably benign	0.02
R4920:Smo	UTSW	6	29,759,594 (GRCm38)	missense	probably damaging	1.00
R5165:Smo	UTSW	6	29,736,078 (GRCm38)	missense	unknown
R5350:Smo	UTSW	6	29,754,467 (GRCm38)	missense	probably benign	0.02
R5554:Smo	UTSW	6	29,736,124 (GRCm38)	missense	possibly damaging	0.72
R6409:Smo	UTSW	6	29,736,114 (GRCm38)	missense	unknown
R6440:Smo	UTSW	6	29,756,814 (GRCm38)	missense	possibly damaging	0.93
R6707:Smo	UTSW	6	29,736,174 (GRCm38)	missense	probably benign
R6766:Smo	UTSW	6	29,736,045 (GRCm38)	missense	unknown
R7061:Smo	UTSW	6	29,760,230 (GRCm38)	missense	probably damaging	1.00
R7147:Smo	UTSW	6	29,758,449 (GRCm38)	missense	possibly damaging	0.91
R7491:Smo	UTSW	6	29,736,120 (GRCm38)	missense	probably damaging	0.96
R7500:Smo	UTSW	6	29,755,535 (GRCm38)	missense	probably benign	0.09
R7735:Smo	UTSW	6	29,759,852 (GRCm38)	missense	probably damaging	1.00
R8109:Smo	UTSW	6	29,755,523 (GRCm38)	missense	probably damaging	1.00
R8511:Smo	UTSW	6	29,755,532 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16