Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Smo'

580749

Institutional Source

Beutler Lab

Gene Symbol

Smo

Ensembl Gene

ENSMUSG00000001761

Gene Name

smoothened, frizzled class receptor

Synonyms

E130215L21Rik

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7491 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

29735502-29761364 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 29736119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 37 (G37A)

Ref Sequence

ENSEMBL: ENSMUSP00000001812 (fasta)

Gene Model

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

AlphaFold

P56726

Predicted Effect

probably damaging
Transcript: ENSMUST00000001812
AA Change: G37A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000001812
Gene: ENSMUSG00000001761
AA Change: G37A

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,445,099 (GRCm39)		probably null	Het
5730522E02Rik	A	T	11: 25,719,014 (GRCm39)	V44E	unknown	Het
Adcy9	A	G	16: 4,236,673 (GRCm39)	L246S	possibly damaging	Het
Adk	C	T	14: 21,284,997 (GRCm39)	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,726,794 (GRCm39)	D41V	probably benign	Het
Ankib1	T	G	5: 3,751,911 (GRCm39)	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,219,203 (GRCm39)	V542D	probably benign	Het
Arhgef28	T	C	13: 98,081,194 (GRCm39)	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,898,631 (GRCm39)	V353A	probably benign	Het
Cacna1a	C	A	8: 85,285,922 (GRCm39)	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,590,304 (GRCm39)	M1559V		Het
Cdh10	G	C	15: 19,013,445 (GRCm39)	E682Q	probably damaging	Het
Celsr1	T	C	15: 85,916,719 (GRCm39)	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,291,111 (GRCm39)	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Col2a1	C	T	15: 97,874,040 (GRCm39)	V1449I	not run	Het
Cpt2	A	G	4: 107,764,339 (GRCm39)	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,235,487 (GRCm39)	T502A	probably benign	Het
Creb3l2	G	T	6: 37,356,794 (GRCm39)	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,119,601 (GRCm39)	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,379,379 (GRCm39)	V246F	probably damaging	Het
Dse	A	G	10: 34,028,561 (GRCm39)	V843A	probably benign	Het
Ern2	C	A	7: 121,769,756 (GRCm39)	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,472,281 (GRCm39)	D906N	probably damaging	Het
Fry	A	G	5: 150,389,791 (GRCm39)	E140G		Het
Galnt7	A	G	8: 58,005,552 (GRCm39)	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,249,763 (GRCm39)	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm826	A	T	2: 160,153,942 (GRCm39)	S34T	unknown	Het
Gzmk	A	T	13: 113,308,535 (GRCm39)	I222N	probably benign	Het
Hivep3	A	T	4: 119,956,027 (GRCm39)	T1448S	probably benign	Het
Hk1	T	C	10: 62,131,524 (GRCm39)	D278G	probably damaging	Het
Ipo7	C	A	7: 109,638,401 (GRCm39)	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,598,179 (GRCm39)	I571N	probably damaging	Het
Itgb6	T	C	2: 60,450,720 (GRCm39)	Y573C	probably damaging	Het
Kmt2c	T	A	5: 25,489,562 (GRCm39)	H4459L	probably damaging	Het
Limch1	T	G	5: 67,211,580 (GRCm39)	S894R	probably damaging	Het
Lrit2	A	T	14: 36,790,867 (GRCm39)	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,867,100 (GRCm39)	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,121,374 (GRCm39)	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,301,092 (GRCm39)	V134A	possibly damaging	Het
Nae1	A	T	8: 105,244,871 (GRCm39)	D353E	probably benign	Het
Naip5	A	C	13: 100,353,579 (GRCm39)	F1227V	probably benign	Het
Nln	A	T	13: 104,205,831 (GRCm39)	F108I	probably damaging	Het
Nop16	C	T	13: 54,736,417 (GRCm39)	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,424,903 (GRCm39)	T150S	probably benign	Het
Or10d4b	T	G	9: 39,535,268 (GRCm39)	I281S	possibly damaging	Het
Pcdha4	T	C	18: 37,087,689 (GRCm39)	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,483 (GRCm39)	I513T	probably benign	Het
Prc1	A	T	7: 79,959,239 (GRCm39)		probably null	Het
Prpf4	T	A	4: 62,336,113 (GRCm39)	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,051,392 (GRCm39)	E43G	probably benign	Het
Pum1	T	A	4: 130,446,485 (GRCm39)	D181E	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Rgs1	T	C	1: 144,121,134 (GRCm39)	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,103,764 (GRCm39)	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528 (GRCm39)	L1484Q	probably damaging	Het
Sall3	C	T	18: 81,015,920 (GRCm39)	M669I	probably benign	Het
Saxo1	A	C	4: 86,363,644 (GRCm39)	F280V	probably benign	Het
Scn2a	T	C	2: 65,532,352 (GRCm39)	S655P	probably damaging	Het
Senp6	G	T	9: 80,031,010 (GRCm39)	E571*	probably null	Het
Sin3b	C	G	8: 73,473,069 (GRCm39)	T463S	probably damaging	Het
Sirt7	C	A	11: 120,509,837 (GRCm39)	R349L	probably benign	Het
Skor1	T	C	9: 63,053,730 (GRCm39)	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,359,822 (GRCm39)	R310*	probably null	Het
Slco6c1	A	T	1: 97,055,579 (GRCm39)	H107Q	probably benign	Het
Slit2	A	G	5: 48,377,336 (GRCm39)	E455G	probably benign	Het
St6galnac1	T	C	11: 116,660,010 (GRCm39)	K101R	probably benign	Het
Stat1	C	A	1: 52,191,530 (GRCm39)	N628K	probably benign	Het
Syn2	A	T	6: 115,231,615 (GRCm39)	Y302F	probably benign	Het
Tapt1	T	G	5: 44,345,978 (GRCm39)	Q324P	probably damaging	Het
Tgoln1	C	T	6: 72,593,403 (GRCm39)	A26T	unknown	Het
Timm13	T	A	10: 80,736,378 (GRCm39)	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,242,654 (GRCm39)	P77S	possibly damaging	Het
Trem3	T	G	17: 48,564,969 (GRCm39)	F157V	probably benign	Het
Trgv3	T	A	13: 19,427,016 (GRCm39)	M1K	probably null	Het
Trim33	T	A	3: 103,233,464 (GRCm39)	S420T	probably benign	Het
Trip11	T	C	12: 101,851,694 (GRCm39)	K790R	probably damaging	Het
Trnt1	A	G	6: 106,755,865 (GRCm39)	T307A	probably benign	Het
Tshz1	T	C	18: 84,033,766 (GRCm39)	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,827 (GRCm39)	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,484,342 (GRCm39)	Y488H	probably benign	Het
Vwa8	A	T	14: 79,320,254 (GRCm39)	K1088N	probably benign	Het
Wdr35	T	C	12: 9,036,000 (GRCm39)	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569 (GRCm39)	S3T	probably benign	Het
Zscan22	G	A	7: 12,640,833 (GRCm39)	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,812 (GRCm39)	R283*	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
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
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'- AAAGCTGGCCCCAGACTTTC -3'
(R):5'- CAACAGTTTGAGGCCTGAGC -3'

Sequencing Primer
(F):5'- ACCGGTCGCCTAAGTAGC -3'
(R):5'- TTACCGGACCAGAGCACGAG -3'

Posted On

2019-10-17