Mutagenetix > Incidental Mutation

Incidental Mutation 'R7147:Smo'

553867

Institutional Source

Beutler Lab

Gene Symbol

Smo

Ensembl Gene

ENSMUSG00000001761

Gene Name

smoothened, frizzled class receptor

Synonyms

E130215L21Rik

MMRRC Submission

045224-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7147 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29735502-29761364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29758448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 531 (G531D)

Ref Sequence

ENSEMBL: ENSMUSP00000001812 (fasta)

Gene Model

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

AlphaFold

P56726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001812
AA Change: G531D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: G531D

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	C	T	14: 56,017,182 (GRCm39)	G303D	probably damaging	Het
Adgra3	C	T	5: 50,118,587 (GRCm39)	G987D	probably damaging	Het
Akap11	A	G	14: 78,748,905 (GRCm39)	S1161P		Het
Ampd3	G	A	7: 110,404,059 (GRCm39)	E528K	probably damaging	Het
Arl8b	G	A	6: 108,791,976 (GRCm39)	R79Q	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,723,231 (GRCm39)	Q105L		Het
Casd1	T	C	6: 4,624,187 (GRCm39)	Y327H	probably benign	Het
Chodl	T	A	16: 78,743,629 (GRCm39)	C239S	probably damaging	Het
D130043K22Rik	A	T	13: 25,066,546 (GRCm39)	H781L	probably benign	Het
Dlg1	A	T	16: 31,610,672 (GRCm39)	M318L	probably benign	Het
Dlgap1	T	C	17: 70,969,753 (GRCm39)	S520P	probably benign	Het
Dmxl2	T	C	9: 54,324,013 (GRCm39)	I950V	probably benign	Het
Dnah17	T	A	11: 117,985,755 (GRCm39)	T1441S	probably benign	Het
Dock7	A	T	4: 98,849,654 (GRCm39)	N1638K	unknown	Het
Ect2	A	T	3: 27,204,239 (GRCm39)	D23E	probably benign	Het
Ephx1	T	A	1: 180,829,384 (GRCm39)	T55S	probably damaging	Het
F11	T	C	8: 45,703,183 (GRCm39)	Y169C	probably damaging	Het
Fbxw27	A	G	9: 109,618,391 (GRCm39)		probably null	Het
Fhl5	T	A	4: 25,213,777 (GRCm39)		probably null	Het
Gm5145	G	A	17: 20,791,323 (GRCm39)	E234K	probably damaging	Het
Gpr39	G	A	1: 125,800,238 (GRCm39)	D330N	possibly damaging	Het
Greb1	C	T	12: 16,783,428 (GRCm39)	R102H	probably damaging	Het
H4c17	A	G	13: 21,996,159 (GRCm39)	D69G	probably damaging	Het
Ighmbp2	T	C	19: 3,321,676 (GRCm39)	K361R	probably benign	Het
Inpp4b	A	G	8: 82,629,400 (GRCm39)	D245G	probably damaging	Het
Ints14	T	C	9: 64,891,267 (GRCm39)	V416A	possibly damaging	Het
Kif21a	A	G	15: 90,865,086 (GRCm39)	S529P	probably benign	Het
Limk1	A	G	5: 134,686,195 (GRCm39)	M609T	probably benign	Het
Lrrc75a	G	A	11: 62,496,795 (GRCm39)	P256S	probably damaging	Het
Mcc	T	C	18: 44,626,580 (GRCm39)	R339G	probably damaging	Het
Mdga1	C	T	17: 30,065,495 (GRCm39)	W371*	probably null	Het
Mei4	T	A	9: 81,809,649 (GRCm39)	L244Q	probably damaging	Het
Mical2	C	T	7: 111,922,810 (GRCm39)	P605L	possibly damaging	Het
Mrgprf	G	T	7: 144,862,128 (GRCm39)	R230L	possibly damaging	Het
Nlgn1	T	A	3: 26,187,509 (GRCm39)	R125S	probably benign	Het
Or52h7	A	G	7: 104,213,273 (GRCm39)		probably benign	Het
Papola	A	T	12: 105,774,897 (GRCm39)		probably benign	Het
Pold2	T	C	11: 5,823,095 (GRCm39)	D360G	probably benign	Het
Prr12	T	C	7: 44,683,274 (GRCm39)	R1797G	unknown	Het
Psmg2	C	T	18: 67,786,338 (GRCm39)	P233S	probably benign	Het
Ptprh	A	G	7: 4,553,781 (GRCm39)	W857R	probably damaging	Het
Raet1e	A	T	10: 22,057,179 (GRCm39)	M168L	probably benign	Het
Rhbdl2	A	T	4: 123,703,908 (GRCm39)	Y61F	probably damaging	Het
Sacm1l	A	G	9: 123,398,016 (GRCm39)	N236S	probably damaging	Het
Sbf2	A	T	7: 110,046,268 (GRCm39)	S310T	probably benign	Het
Sdr42e2	A	T	7: 120,412,238 (GRCm39)	R33S	probably damaging	Het
Sh3d19	T	A	3: 86,011,584 (GRCm39)	I390N	possibly damaging	Het
Slco3a1	A	G	7: 74,154,042 (GRCm39)	Y177H	probably damaging	Het
Snx25	A	C	8: 46,558,233 (GRCm39)	V258G	probably damaging	Het
Spata31d1b	T	A	13: 59,866,028 (GRCm39)	S1059T	probably benign	Het
Srgap2	C	T	1: 131,238,332 (GRCm39)	C274Y		Het
Srrm1	A	G	4: 135,074,137 (GRCm39)	I48T	probably damaging	Het
Syne1	A	T	10: 5,199,340 (GRCm39)	V3719E	probably damaging	Het
Tcerg1	T	A	18: 42,683,128 (GRCm39)	M616K	probably benign	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Tie1	A	T	4: 118,341,610 (GRCm39)	V234D	probably damaging	Het
Tom1	A	G	8: 75,783,895 (GRCm39)	N293S	probably damaging	Het
Trim13	A	T	14: 61,842,080 (GRCm39)	K32N	probably damaging	Het
Trim6	G	A	7: 103,874,777 (GRCm39)	V5I	probably benign	Het
Vps11	A	T	9: 44,266,379 (GRCm39)	L436*	probably null	Het
Vps50	C	T	6: 3,567,750 (GRCm39)	Q549*	probably null	Het
Vtcn1	T	A	3: 100,791,210 (GRCm39)	F83I	probably damaging	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	Het
Zfp758	A	T	17: 22,594,981 (GRCm39)	Y489F	possibly damaging	Het
Zfp804a	T	C	2: 82,088,531 (GRCm39)	Y787H	probably benign	Het
Zfp9	C	T	6: 118,441,963 (GRCm39)	C233Y	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
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
R6766:Smo	UTSW	6	29,736,044 (GRCm39)	missense	unknown
R7061:Smo	UTSW	6	29,760,229 (GRCm39)	missense	probably damaging	1.00
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'- GGGCTCAGCTCTCTCCTATATG -3'
(R):5'- CATCCAGACTTGCTTTTGGC -3'

Sequencing Primer
(F):5'- AGCTCTCTCCTATATGGATTCATG -3'
(R):5'- AAACACTGCCCCAGTCTGTTTTG -3'

Posted On

2019-05-15