Incidental Mutation 'IGL02391:Spred3'
ID 293853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spred3
Ensembl Gene ENSMUSG00000037239
Gene Name sprouty-related EVH1 domain containing 3
Synonyms D130060H24Rik, Spred-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02391
Quality Score
Chromosome 7
Chromosomal Location 28858254-28869836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28865830 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 126 (S126P)
Ref Sequence ENSEMBL: ENSMUSP00000046216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033886] [ENSMUST00000048923] [ENSMUST00000098609] [ENSMUST00000208288] [ENSMUST00000208330] [ENSMUST00000209019]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033886
SMART Domains Protein: ENSMUSP00000033886
Gene: ENSMUSG00000031493

low complexity region 42 61 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048923
AA Change: S126P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000046216
Gene: ENSMUSG00000037239
AA Change: S126P

Pfam:WH1 1 110 1.6e-13 PFAM
low complexity region 120 130 N/A INTRINSIC
low complexity region 142 153 N/A INTRINSIC
Pfam:Sprouty 292 400 7.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098609
SMART Domains Protein: ENSMUSP00000096209
Gene: ENSMUSG00000031493

Pfam:GGN 38 342 2.1e-158 PFAM
Pfam:GGN 340 709 1.5e-165 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207778
Predicted Effect probably benign
Transcript: ENSMUST00000208288
Predicted Effect probably benign
Transcript: ENSMUST00000208330
Predicted Effect probably benign
Transcript: ENSMUST00000209019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208659
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T A 14: 118,790,764 (GRCm39) N748Y probably damaging Het
Actbl2 A G 13: 111,391,701 (GRCm39) D12G possibly damaging Het
Adamts10 T C 17: 33,747,785 (GRCm39) S74P probably benign Het
Adprs C T 4: 126,211,701 (GRCm39) probably benign Het
Amn1 A G 6: 149,070,944 (GRCm39) probably null Het
Antxr1 A T 6: 87,264,038 (GRCm39) I144N probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cabp5 A T 7: 13,132,269 (GRCm39) R13* probably null Het
Cacna1e A G 1: 154,296,859 (GRCm39) Y1669H probably damaging Het
Ccdc174 A G 6: 91,875,263 (GRCm39) E364G possibly damaging Het
Ccdc18 C T 5: 108,283,918 (GRCm39) P74S probably damaging Het
Clec3a C T 8: 115,152,240 (GRCm39) S82L probably benign Het
Cnih3 A G 1: 181,234,078 (GRCm39) D43G probably damaging Het
Dpp10 G A 1: 123,578,087 (GRCm39) T128M probably damaging Het
Edar A T 10: 58,464,403 (GRCm39) F79I probably damaging Het
Eif2ak4 T A 2: 118,251,272 (GRCm39) H199Q probably benign Het
Fermt1 A G 2: 132,783,871 (GRCm39) L46P probably damaging Het
Glipr1 A G 10: 111,824,799 (GRCm39) probably benign Het
Gsdmc T C 15: 63,675,428 (GRCm39) N129S probably damaging Het
Ift88 T C 14: 57,718,871 (GRCm39) S619P possibly damaging Het
Itga9 T A 9: 118,679,873 (GRCm39) V262E probably benign Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mta1 T A 12: 113,100,203 (GRCm39) I688N possibly damaging Het
Muc4 A T 16: 32,570,894 (GRCm39) R651S probably benign Het
Opcml A G 9: 28,586,560 (GRCm39) I93V probably damaging Het
Or12d17 C T 17: 37,777,477 (GRCm39) P127S probably damaging Het
Or13p4 A G 4: 118,547,538 (GRCm39) L37P probably damaging Het
Or9r7 A G 10: 129,962,773 (GRCm39) V51A possibly damaging Het
Parg T G 14: 31,984,638 (GRCm39) probably null Het
Rps3a3 A G 13: 108,807,417 (GRCm39) probably benign Het
Safb T A 17: 56,907,813 (GRCm39) probably benign Het
Sat2 G T 11: 69,513,575 (GRCm39) C54F probably damaging Het
Scin T A 12: 40,127,530 (GRCm39) Y420F probably benign Het
Slc22a29 A T 19: 8,146,717 (GRCm39) S362T probably benign Het
Smchd1 T C 17: 71,738,254 (GRCm39) D537G probably null Het
Ssh1 C T 5: 114,080,578 (GRCm39) E951K probably damaging Het
Ssmem1 A G 6: 30,512,441 (GRCm39) E28G possibly damaging Het
Stox1 A T 10: 62,495,455 (GRCm39) probably benign Het
Syn3 T C 10: 85,900,770 (GRCm39) I373V probably benign Het
Tecrl A T 5: 83,502,674 (GRCm39) F58L probably benign Het
Trp53bp1 T C 2: 121,033,191 (GRCm39) N1655S possibly damaging Het
Usp2 G T 9: 44,002,524 (GRCm39) Q147H probably damaging Het
Usp24 T A 4: 106,264,326 (GRCm39) N1751K possibly damaging Het
Wipf1 T A 2: 73,264,487 (GRCm39) D438V probably damaging Het
Other mutations in Spred3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Spred3 APN 7 28,860,948 (GRCm39) utr 3 prime probably benign
IGL03355:Spred3 APN 7 28,860,997 (GRCm39) missense unknown
R0480:Spred3 UTSW 7 28,862,400 (GRCm39) missense probably damaging 0.99
R2396:Spred3 UTSW 7 28,866,059 (GRCm39) missense probably damaging 1.00
R4161:Spred3 UTSW 7 28,861,210 (GRCm39) missense probably damaging 1.00
R4899:Spred3 UTSW 7 28,861,258 (GRCm39) missense probably damaging 1.00
R4974:Spred3 UTSW 7 28,867,249 (GRCm39) missense probably damaging 1.00
R5291:Spred3 UTSW 7 28,867,255 (GRCm39) missense probably damaging 1.00
R6192:Spred3 UTSW 7 28,862,402 (GRCm39) missense probably benign 0.08
R8711:Spred3 UTSW 7 28,866,086 (GRCm39) missense possibly damaging 0.91
R8853:Spred3 UTSW 7 28,861,415 (GRCm39) missense probably benign 0.13
R9072:Spred3 UTSW 7 28,865,955 (GRCm39) nonsense probably null
R9073:Spred3 UTSW 7 28,865,955 (GRCm39) nonsense probably null
Posted On 2015-04-16