Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Smo'

395644

Institutional Source

Beutler Lab

Gene Symbol

Smo

Ensembl Gene

ENSMUSG00000001761

Gene Name

smoothened, frizzled class receptor

Synonyms

E130215L21Rik

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5165 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

29735502-29761364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29736077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 23 (L23Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001812 (fasta)

Gene Model

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

AlphaFold

P56726

Predicted Effect

unknown
Transcript: ENSMUST00000001812
AA Change: L23Q

SMART Domains

Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: L23Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201515

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dmwd	G	A	7: 18,811,960 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Gstcd	A	C	3: 132,790,440 (GRCm39)	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or14j7	A	G	17: 38,235,252 (GRCm39)	D265G	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tomm40	A	G	7: 19,447,592 (GRCm39)		probably null	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	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
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'- AAGTTTGCAAAGTTGGGAGTCG -3'
(R):5'- CACACGTTGTAGCGCAAAG -3'

Sequencing Primer
(F):5'- GAAAGCTGGCCCCAGACTTTC -3'
(R):5'- TTGTAGCGCAAAGGCTCG -3'

Posted On

2016-06-21