Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Smo'

44965

Institutional Source

Beutler Lab

Gene Symbol

Smo

Ensembl Gene

ENSMUSG00000001761

Gene Name

smoothened, frizzled class receptor

Synonyms

E130215L21Rik

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0548 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29735502-29761364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29759585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 639 (Q639L)

Ref Sequence

ENSEMBL: ENSMUSP00000001812 (fasta)

Gene Model

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

AlphaFold

P56726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001812
AA Change: Q639L

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: Q639L

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

Meta Mutation Damage Score

0.1195

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,461,599 (GRCm39)	S95T	probably damaging	Het
Fiz1	A	T	7: 5,012,167 (GRCm39)	V117D	possibly damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Map1b	T	C	13: 99,568,191 (GRCm39)	K1510R	unknown	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,134,950 (GRCm39)	I1751N	probably damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,458,788 (GRCm39)		probably benign	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het
Zscan18	G	T	7: 12,508,103 (GRCm39)	P466T	probably damaging	Het

Other mutations in Smo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Smo	APN	6	29,758,893 (GRCm39)	nonsense	probably null
IGL01969:Smo	APN	6	29,755,171 (GRCm39)	critical splice acceptor site	probably null
IGL02078:Smo	APN	6	29,754,707 (GRCm39)	missense	possibly damaging	0.46
IGL02248:Smo	APN	6	29,757,291 (GRCm39)	missense	possibly damaging	0.69
IGL02496:Smo	APN	6	29,758,480 (GRCm39)	missense	probably damaging	0.99
IGL03159:Smo	APN	6	29,758,504 (GRCm39)	missense	probably benign	0.00
knobby	UTSW	6	29,736,173 (GRCm39)	missense	probably benign
R0606:Smo	UTSW	6	29,753,603 (GRCm39)	missense	possibly damaging	0.69
R1164:Smo	UTSW	6	29,754,718 (GRCm39)	missense	probably benign	0.18
R1438:Smo	UTSW	6	29,755,482 (GRCm39)	missense	possibly damaging	0.89
R1900:Smo	UTSW	6	29,736,055 (GRCm39)	missense	unknown
R2022:Smo	UTSW	6	29,754,715 (GRCm39)	missense	possibly damaging	0.87
R2023:Smo	UTSW	6	29,754,715 (GRCm39)	missense	possibly damaging	0.87
R2129:Smo	UTSW	6	29,757,313 (GRCm39)	missense	probably damaging	1.00
R4033:Smo	UTSW	6	29,759,917 (GRCm39)	missense	probably damaging	0.98
R4795:Smo	UTSW	6	29,755,573 (GRCm39)	missense	probably damaging	0.99
R4878:Smo	UTSW	6	29,753,570 (GRCm39)	missense	probably benign	0.02
R4920:Smo	UTSW	6	29,759,593 (GRCm39)	missense	probably damaging	1.00
R5165:Smo	UTSW	6	29,736,077 (GRCm39)	missense	unknown
R5350:Smo	UTSW	6	29,754,466 (GRCm39)	missense	probably benign	0.02
R5554:Smo	UTSW	6	29,736,123 (GRCm39)	missense	possibly damaging	0.72
R6409:Smo	UTSW	6	29,736,113 (GRCm39)	missense	unknown
R6440:Smo	UTSW	6	29,756,813 (GRCm39)	missense	possibly damaging	0.93
R6707:Smo	UTSW	6	29,736,173 (GRCm39)	missense	probably benign
R6766:Smo	UTSW	6	29,736,044 (GRCm39)	missense	unknown
R7061:Smo	UTSW	6	29,760,229 (GRCm39)	missense	probably damaging	1.00
R7147:Smo	UTSW	6	29,758,448 (GRCm39)	missense	possibly damaging	0.91
R7491:Smo	UTSW	6	29,736,119 (GRCm39)	missense	probably damaging	0.96
R7500:Smo	UTSW	6	29,755,534 (GRCm39)	missense	probably benign	0.09
R7735:Smo	UTSW	6	29,759,851 (GRCm39)	missense	probably damaging	1.00
R8109:Smo	UTSW	6	29,755,522 (GRCm39)	missense	probably damaging	1.00
R8511:Smo	UTSW	6	29,755,531 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGGGAATCAGAGGCTGCTGCAC -3'
(R):5'- AAGCCTTGGCATCTCCTTCAGGTC -3'

Sequencing Primer
(F):5'- CACTCGGATTTTGAATGGGCAC -3'
(R):5'- GCAGAAGACAGAGCCCTCAT -3'

Posted On

2013-06-11