Incidental Mutation 'R7167:Smad3'
ID 557992
Institutional Source Beutler Lab
Gene Symbol Smad3
Ensembl Gene ENSMUSG00000032402
Gene Name SMAD family member 3
Synonyms Madh3, Smad 3
MMRRC Submission 045228-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7167 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 63554049-63665276 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63573435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 201 (D201V)
Ref Sequence ENSEMBL: ENSMUSP00000034973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034973] [ENSMUST00000137713] [ENSMUST00000154323]
AlphaFold Q8BUN5
Predicted Effect probably benign
Transcript: ENSMUST00000034973
AA Change: D201V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034973
Gene: ENSMUSG00000032402
AA Change: D201V

DomainStartEndE-ValueType
DWA 26 134 5.63e-68 SMART
Blast:DWB 189 219 8e-12 BLAST
DWB 230 401 6.93e-109 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000122217
Gene: ENSMUSG00000032402
AA Change: D141V

DomainStartEndE-ValueType
DWA 3 75 2.19e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137713
AA Change: D6V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121671
Gene: ENSMUSG00000032402
AA Change: D6V

DomainStartEndE-ValueType
DWB 35 113 3.07e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154323
AA Change: D136V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116790
Gene: ENSMUSG00000032402
AA Change: D136V

DomainStartEndE-ValueType
DWA 1 69 5.6e-22 SMART
Pfam:MH2 161 233 3.9e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (65/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions as a transcriptional modulator activated by transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygotes for targeted mutations exhibit reduced mucosal immunity, chronic intestinal inflammation (sometimes with colonic adenocarcinoma), forelimb malformation, reduced mineralization of enamel, impaired growth of ovarian follicles, and develop osteoarthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,624,930 (GRCm39) V436A probably benign Het
Abcc5 T C 16: 20,224,251 (GRCm39) T111A possibly damaging Het
Acsbg2 T A 17: 57,164,000 (GRCm39) D203V probably benign Het
Alpk2 G T 18: 65,440,049 (GRCm39) T448K probably benign Het
Arhgef2 A G 3: 88,551,179 (GRCm39) N780S possibly damaging Het
Atxn2l T C 7: 126,098,394 (GRCm39) N252S possibly damaging Het
Bmpr1b A T 3: 141,568,841 (GRCm39) L163Q probably benign Het
Clca3a2 T C 3: 144,803,545 (GRCm39) R100G probably benign Het
Col2a1 A G 15: 97,898,337 (GRCm39) I79T unknown Het
Csmd1 A G 8: 15,976,524 (GRCm39) V2898A probably benign Het
Cux1 G A 5: 136,338,895 (GRCm39) probably null Het
Cyp2u1 A G 3: 131,096,773 (GRCm39) S2P probably benign Het
Daam1 C A 12: 72,035,678 (GRCm39) H958N probably damaging Het
Dnah7a C T 1: 53,542,935 (GRCm39) V2412I probably benign Het
Ergic2 T C 6: 148,108,133 (GRCm39) R2G probably damaging Het
Fat2 T C 11: 55,175,827 (GRCm39) T1629A possibly damaging Het
Ftl1 T A 7: 45,109,202 (GRCm39) probably benign Het
Fut8 T C 12: 77,495,406 (GRCm39) V332A possibly damaging Het
Gm28363 T C 1: 117,655,119 (GRCm39) S113P probably damaging Het
Hfe A T 13: 23,892,052 (GRCm39) V104E probably damaging Het
Ifih1 A T 2: 62,429,240 (GRCm39) N899K probably benign Het
Krt75 A G 15: 101,476,750 (GRCm39) S380P possibly damaging Het
Meiob T G 17: 25,055,419 (GRCm39) F409V probably damaging Het
Mkrn2os A T 6: 115,562,474 (GRCm39) I163N probably damaging Het
Nanos1 G T 19: 60,745,046 (GRCm39) G115W probably damaging Het
Naprt C T 15: 75,764,461 (GRCm39) A276T probably damaging Het
Oas1e G T 5: 120,933,487 (GRCm39) T26N probably benign Het
Oog2 T G 4: 143,921,745 (GRCm39) D218E probably benign Het
Optn T C 2: 5,047,294 (GRCm39) N207S probably benign Het
Or13a20 T A 7: 140,232,466 (GRCm39) C191* probably null Het
Or1l8 T C 2: 36,817,533 (GRCm39) I198V probably benign Het
Or4g16 T C 2: 111,136,793 (GRCm39) M81T probably benign Het
Or4p18 A G 2: 88,232,552 (GRCm39) V242A possibly damaging Het
Or6c63-ps1 T G 10: 128,899,141 (GRCm39) Q245P probably damaging Het
Or6c66b T C 10: 129,376,607 (GRCm39) L67P possibly damaging Het
Or8g4 T C 9: 39,661,865 (GRCm39) F61S probably damaging Het
Oxnad1 G T 14: 31,822,976 (GRCm39) E236* probably null Het
Pcdha3 G A 18: 37,080,046 (GRCm39) A263T probably damaging Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Pip5k1b T A 19: 24,374,433 (GRCm39) E49D probably benign Het
Plau C A 14: 20,889,518 (GRCm39) F194L possibly damaging Het
Ppm1n A G 7: 19,013,666 (GRCm39) L95S probably damaging Het
Pramel40 G A 5: 94,464,984 (GRCm39) A457T possibly damaging Het
Radil G T 5: 142,471,260 (GRCm39) probably null Het
Ralgapa2 C T 2: 146,190,374 (GRCm39) M1266I probably benign Het
Reln A T 5: 22,147,618 (GRCm39) L2444Q probably damaging Het
Rims2 T C 15: 39,300,473 (GRCm39) V260A probably benign Het
Rnase2b T A 14: 51,400,222 (GRCm39) V101E probably damaging Het
Rtp3 T A 9: 110,815,772 (GRCm39) T198S probably benign Het
Shisal2b A G 13: 105,000,166 (GRCm39) V19A probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spata7 T G 12: 98,630,555 (GRCm39) F371C probably damaging Het
Stag1 T G 9: 100,827,942 (GRCm39) N990K probably benign Het
Tbx18 C T 9: 87,589,883 (GRCm39) A352T probably damaging Het
Thada C T 17: 84,538,391 (GRCm39) R1539Q probably benign Het
Thrap3 A C 4: 126,078,920 (GRCm39) probably benign Het
Tnks G A 8: 35,316,458 (GRCm39) T887M probably damaging Het
Trap1 A C 16: 3,870,792 (GRCm39) V393G probably damaging Het
Trpm4 A G 7: 44,977,143 (GRCm39) probably null Het
Trrap G T 5: 144,776,424 (GRCm39) G3007C probably benign Het
U2surp A T 9: 95,363,726 (GRCm39) N611K probably damaging Het
Usp12 A G 5: 146,705,745 (GRCm39) probably null Het
Vmn1r200 A G 13: 22,579,487 (GRCm39) T97A possibly damaging Het
Vmn2r110 C T 17: 20,794,441 (GRCm39) V743I probably benign Het
Vps50 C T 6: 3,600,256 (GRCm39) T905M probably damaging Het
Wdr48 T A 9: 119,736,855 (GRCm39) probably null Het
Zfp446 C T 7: 12,712,049 (GRCm39) probably benign Het
Zfr T C 15: 12,181,015 (GRCm39) S1012P probably benign Het
Other mutations in Smad3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Smad3 APN 9 63,562,868 (GRCm39) missense probably damaging 0.98
IGL01946:Smad3 APN 9 63,664,835 (GRCm39) missense probably damaging 1.00
IGL02672:Smad3 APN 9 63,575,009 (GRCm39) critical splice donor site probably null
IGL02686:Smad3 APN 9 63,575,064 (GRCm39) missense probably damaging 1.00
IGL03205:Smad3 APN 9 63,575,148 (GRCm39) missense probably benign 0.12
noseeem UTSW 9 63,561,999 (GRCm39) nonsense probably null
R4555:Smad3 UTSW 9 63,562,070 (GRCm39) missense possibly damaging 0.71
R4736:Smad3 UTSW 9 63,664,842 (GRCm39) missense probably damaging 1.00
R6387:Smad3 UTSW 9 63,562,047 (GRCm39) missense probably benign 0.00
R7591:Smad3 UTSW 9 63,561,999 (GRCm39) nonsense probably null
R7961:Smad3 UTSW 9 63,557,564 (GRCm39) missense possibly damaging 0.70
R8303:Smad3 UTSW 9 63,574,760 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTGTTCAAGCCCATCTCGC -3'
(R):5'- TTCCTGGAAGTGGAATGAATGC -3'

Sequencing Primer
(F):5'- GCCTAACGCCTGAACATCTGG -3'
(R):5'- TGAATGCATGGTATATAGGCTACC -3'
Posted On 2019-06-26