Incidental Mutation 'R5551:Smad5'
ID 435143
Institutional Source Beutler Lab
Gene Symbol Smad5
Ensembl Gene ENSMUSG00000021540
Gene Name SMAD family member 5
Synonyms Madh5, Smad 5, MusMLP
MMRRC Submission 043108-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5551 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 56850823-56890190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56883654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 347 (C347R)
Ref Sequence ENSEMBL: ENSMUSP00000105502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069557] [ENSMUST00000109874] [ENSMUST00000109876]
AlphaFold P97454
Predicted Effect probably damaging
Transcript: ENSMUST00000069557
AA Change: C347R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065798
Gene: ENSMUSG00000021540
AA Change: C347R

DomainStartEndE-ValueType
DWA 26 135 2.29e-68 SMART
low complexity region 186 214 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
DWB 269 441 1.24e-105 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109874
AA Change: C347R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105500
Gene: ENSMUSG00000021540
AA Change: C347R

DomainStartEndE-ValueType
DWA 26 135 2.29e-68 SMART
low complexity region 186 214 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
DWB 269 441 1.24e-105 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109876
AA Change: C347R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105502
Gene: ENSMUSG00000021540
AA Change: C347R

DomainStartEndE-ValueType
DWA 26 135 2.29e-68 SMART
low complexity region 186 214 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
DWB 269 441 1.24e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138677
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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 involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB041806 G T 4: 138,123,312 (GRCm39) P3T probably damaging Het
Abl1 C T 2: 31,691,682 (GRCm39) A1048V probably benign Het
Acap2 A G 16: 30,923,726 (GRCm39) V659A probably damaging Het
Acox1 A G 11: 116,080,317 (GRCm39) S29P possibly damaging Het
Adamts1 A G 16: 85,594,634 (GRCm39) I405T probably benign Het
Afm A T 5: 90,679,511 (GRCm39) E335V probably null Het
Akap6 C T 12: 52,842,747 (GRCm39) P32S probably damaging Het
Alk T C 17: 72,182,028 (GRCm39) M1332V possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Atp2c1 C A 9: 105,336,936 (GRCm39) A16S probably damaging Het
Ccdc141 T C 2: 76,844,753 (GRCm39) E1438G probably damaging Het
Csmd2 T C 4: 128,404,741 (GRCm39) Y2376H possibly damaging Het
Csmd3 T C 15: 48,177,492 (GRCm39) T349A probably benign Het
Ctsr A T 13: 61,307,357 (GRCm39) M313K probably damaging Het
Dot1l CCAGCCCCACCCTCAGCC CCAGCC 10: 80,619,462 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,031,718 (GRCm39) S3516P possibly damaging Het
Ehd4 A G 2: 119,958,100 (GRCm39) S162P possibly damaging Het
Ets2 T C 16: 95,513,165 (GRCm39) W114R probably damaging Het
Fignl1 A T 11: 11,751,603 (GRCm39) V484E probably damaging Het
Golph3 C A 15: 12,321,922 (GRCm39) S35R probably benign Het
Gzf1 T C 2: 148,526,248 (GRCm39) Y240H probably damaging Het
Hook3 A G 8: 26,558,639 (GRCm39) F75S possibly damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Iqch A T 9: 63,403,535 (GRCm39) probably null Het
Katnip T C 7: 125,419,249 (GRCm39) F472S probably damaging Het
Lrrk2 C T 15: 91,696,553 (GRCm39) T2447I probably benign Het
Mesp2 T C 7: 79,461,367 (GRCm39) S231P probably benign Het
Muc5b T C 7: 141,422,240 (GRCm39) C4459R possibly damaging Het
Myh10 A G 11: 68,659,113 (GRCm39) E497G possibly damaging Het
Nalcn A T 14: 123,515,698 (GRCm39) V1701E possibly damaging Het
Nat8f1 T C 6: 85,887,891 (GRCm39) D23G probably damaging Het
Nfia G A 4: 97,902,497 (GRCm39) E250K probably damaging Het
Nup155 A G 15: 8,177,817 (GRCm39) M1067V probably benign Het
Or4k36 T C 2: 111,145,916 (GRCm39) F31L possibly damaging Het
Pde4d T A 13: 110,084,930 (GRCm39) probably null Het
Rtn4 G A 11: 29,691,011 (GRCm39) V1101I probably damaging Het
Sema4c A G 1: 36,591,398 (GRCm39) Y348H probably damaging Het
Sema6a A G 18: 47,381,595 (GRCm39) V958A possibly damaging Het
Sez6l2 A G 7: 126,566,002 (GRCm39) Y677C probably damaging Het
Smim19 A G 8: 22,953,383 (GRCm39) Y95H probably benign Het
Srrm2 C A 17: 24,037,450 (GRCm39) probably benign Het
Ssb A G 2: 69,701,474 (GRCm39) K390E probably damaging Het
Tars1 G A 15: 11,392,068 (GRCm39) T248M probably damaging Het
Tcirg1 A T 19: 3,948,858 (GRCm39) F442L probably damaging Het
Tex55 A G 16: 38,648,336 (GRCm39) Y258H probably benign Het
Tlk2 A G 11: 105,112,133 (GRCm39) E162G probably benign Het
Tmc6 A G 11: 117,660,271 (GRCm39) C656R probably damaging Het
Ttn G T 2: 76,719,406 (GRCm39) probably benign Het
Uqcrc2 C T 7: 120,244,461 (GRCm39) T201I probably damaging Het
Zfp282 G T 6: 47,867,579 (GRCm39) A252S possibly damaging Het
Zfp473 G C 7: 44,383,575 (GRCm39) P253A probably benign Het
Zfp541 A G 7: 15,824,786 (GRCm39) N1068D probably damaging Het
Zfp946 A G 17: 22,674,365 (GRCm39) Q373R probably damaging Het
Zmat2 G A 18: 36,927,010 (GRCm39) G6R probably benign Het
Other mutations in Smad5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Smad5 APN 13 56,871,480 (GRCm39) missense probably benign 0.11
IGL01407:Smad5 APN 13 56,883,630 (GRCm39) missense probably benign 0.00
IGL02267:Smad5 APN 13 56,883,603 (GRCm39) splice site probably benign
IGL03014:Smad5 UTSW 13 56,883,754 (GRCm39) missense probably damaging 1.00
R1317:Smad5 UTSW 13 56,883,884 (GRCm39) splice site probably benign
R2001:Smad5 UTSW 13 56,885,187 (GRCm39) missense probably damaging 0.99
R5401:Smad5 UTSW 13 56,875,282 (GRCm39) missense probably benign 0.00
R5734:Smad5 UTSW 13 56,871,617 (GRCm39) missense probably damaging 1.00
R5796:Smad5 UTSW 13 56,871,645 (GRCm39) missense probably damaging 0.98
R5988:Smad5 UTSW 13 56,883,798 (GRCm39) missense probably damaging 0.99
R7557:Smad5 UTSW 13 56,875,282 (GRCm39) missense probably benign 0.00
R7769:Smad5 UTSW 13 56,880,855 (GRCm39) missense possibly damaging 0.95
R8110:Smad5 UTSW 13 56,871,701 (GRCm39) missense probably damaging 1.00
R9215:Smad5 UTSW 13 56,880,815 (GRCm39) missense probably damaging 1.00
R9369:Smad5 UTSW 13 56,885,242 (GRCm39) missense possibly damaging 0.86
R9432:Smad5 UTSW 13 56,875,417 (GRCm39) missense probably benign 0.00
Z1088:Smad5 UTSW 13 56,876,441 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCAGGCAGTTTACAAACCTGC -3'
(R):5'- CAGCCTCGAATCCATGGTTG -3'

Sequencing Primer
(F):5'- AGATAATTTCTGGCTGCTGAAGG -3'
(R):5'- AATCCATGGTTGACTGACTGAGCC -3'
Posted On 2016-10-24