Mutagenetix > Incidental Mutation

Incidental Mutation 'R6766:Smo'

531917

Institutional Source

Beutler Lab

Gene Symbol

Smo

Ensembl Gene

ENSMUSG00000001761

Gene Name

smoothened, frizzled class receptor

Synonyms

E130215L21Rik

MMRRC Submission

044882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6766 (G1)

Quality Score

181.016

Status

Not validated

Chromosome

Chromosomal Location

29735502-29761364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29736044 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Leucine to Glutamine at position 12 (L12Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001812 (fasta)

Gene Model

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

AlphaFold

P56726

Predicted Effect

unknown
Transcript: ENSMUST00000001812
AA Change: L12Q

SMART Domains

Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: L12Q

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

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	G	A	8: 25,362,646 (GRCm39)	S17L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd34c	A	G	9: 89,611,381 (GRCm39)	V320A	probably benign	Het
Aox1	C	A	1: 58,388,227 (GRCm39)	L1112I	possibly damaging	Het
Arap2	A	C	5: 62,834,443 (GRCm39)		probably null	Het
Atm	A	T	9: 53,401,582 (GRCm39)	I1429N	probably damaging	Het
Ccdc68	A	G	18: 70,099,861 (GRCm39)	N290D	probably damaging	Het
Chst1	T	C	2: 92,443,542 (GRCm39)	W5R	probably damaging	Het
Clip1	G	T	5: 123,752,827 (GRCm39)		probably benign	Het
Crebbp	T	C	16: 3,935,364 (GRCm39)	T842A	probably damaging	Het
Cyp2b13	T	C	7: 25,781,236 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,358,522 (GRCm39)		probably null	Het
Dst	A	G	1: 34,333,564 (GRCm39)	I4800V	probably damaging	Het
Efcab7	CAAGTAAAGTAA	CAAGTAA	4: 99,735,161 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,348,990 (GRCm39)	Q382*	probably null	Het
Fam83e	A	G	7: 45,376,070 (GRCm39)	D261G	probably damaging	Het
Ifnk	T	G	4: 35,152,134 (GRCm39)	S21A	possibly damaging	Het
Ift122	A	G	6: 115,903,204 (GRCm39)	H1157R	probably benign	Het
Ighv1-67	T	C	12: 115,567,654 (GRCm39)	K67R	possibly damaging	Het
Inpp4a	C	A	1: 37,411,422 (GRCm39)	A97D	probably damaging	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Irgm1	T	C	11: 48,756,928 (GRCm39)	I294M	possibly damaging	Het
Isoc2b	C	T	7: 4,854,061 (GRCm39)	V104M	probably damaging	Het
Kif2c	A	C	4: 117,024,280 (GRCm39)	S311R	probably benign	Het
Morn3	G	A	5: 123,179,270 (GRCm39)	A60V	probably damaging	Het
Oit3	T	C	10: 59,274,534 (GRCm39)	N89D	probably damaging	Het
Or14c40	A	T	7: 86,313,293 (GRCm39)	N141I	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4c127	T	C	2: 89,832,876 (GRCm39)	V42A	probably benign	Het
Or5d44	T	A	2: 88,142,095 (GRCm39)	Q15L	noncoding transcript	Het
Or8b48	A	C	9: 38,493,069 (GRCm39)	R165S	probably damaging	Het
Pan2	C	A	10: 128,150,381 (GRCm39)	N708K	possibly damaging	Het
Parp1	T	A	1: 180,425,927 (GRCm39)	V886E	probably damaging	Het
Pcdha8	C	A	18: 37,127,753 (GRCm39)	A745E	probably benign	Het
Pcyox1	C	T	6: 86,371,390 (GRCm39)		probably null	Het
Prl2c2	A	T	13: 13,176,713 (GRCm39)		probably null	Het
Samd1	T	C	8: 84,726,361 (GRCm39)	S473P	possibly damaging	Het
Slc26a1	A	T	5: 108,819,773 (GRCm39)	D475E	probably damaging	Het
Slco1c1	T	C	6: 141,493,535 (GRCm39)	V239A	possibly damaging	Het
Srpk1	C	T	17: 28,821,727 (GRCm39)	R229Q	possibly damaging	Het
Syn2	T	A	6: 115,216,362 (GRCm39)	F191L	probably damaging	Het
Syngr2	T	C	11: 117,704,261 (GRCm39)	V182A	probably benign	Het
Tarbp1	G	A	8: 127,174,139 (GRCm39)	A889V	probably benign	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Tmem217	T	A	17: 29,745,484 (GRCm39)	Y82F	probably damaging	Het
Ttll9	T	A	2: 152,841,220 (GRCm39)	Y272*	probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vsig8	T	A	1: 172,388,143 (GRCm39)	M37K	probably benign	Het
Vwf	G	T	6: 125,616,339 (GRCm39)	D1218Y	unknown	Het
Wdr11	T	G	7: 129,226,036 (GRCm39)	M727R	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Yod1	T	A	1: 130,647,008 (GRCm39)	L295*	probably null	Het
Zfp113	G	T	5: 138,143,608 (GRCm39)	S214*	probably null	Het
Zfp438	T	A	18: 5,213,780 (GRCm39)	M393L	probably benign	Het
Zfp946	G	A	17: 22,674,752 (GRCm39)	C502Y	probably benign	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
R0548:Smo	UTSW	6	29,759,585 (GRCm39)	missense	possibly damaging	0.45
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
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'- AAGTTTGCAAAGTTGGGAGTCG -3'
(R):5'- ACGTTGTAGCGCAAAGGCTC -3'

Sequencing Primer
(F):5'- TTGGGAGTCGAGGGGCC -3'
(R):5'- AAAGGCTCGCAGTGGGC -3'

Posted On

2018-08-29