Incidental Mutation 'R5291:Spred3'
ID 405150
Institutional Source Beutler Lab
Gene Symbol Spred3
Ensembl Gene ENSMUSG00000037239
Gene Name sprouty-related EVH1 domain containing 3
Synonyms D130060H24Rik, Spred-3
MMRRC Submission 042874-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5291 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 28858254-28869836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28867255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 47 (H47L)
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

DomainStartEndE-ValueType
low complexity region 42 61 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000048923
AA Change: H47L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046216
Gene: ENSMUSG00000037239
AA Change: H47L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000208659
Predicted Effect probably benign
Transcript: ENSMUST00000209019
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,394 (GRCm39) S328G probably damaging Het
Acot5 T G 12: 84,120,293 (GRCm39) L216R probably benign Het
Ankrd6 A G 4: 32,823,446 (GRCm39) L192P probably damaging Het
Atp6v1e1 C A 6: 120,795,294 (GRCm39) probably null Het
Bbs9 T C 9: 22,540,293 (GRCm39) Y358H probably damaging Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Camk2a A G 18: 61,090,236 (GRCm39) K192R probably damaging Het
Ceacam1 T A 7: 25,171,256 (GRCm39) R223W probably damaging Het
Cntn6 T A 6: 104,703,096 (GRCm39) F173I probably damaging Het
Cntrl A C 2: 35,024,072 (GRCm39) I33L probably damaging Het
Crybg2 T C 4: 133,800,738 (GRCm39) S633P probably benign Het
Cyp2j13 T C 4: 95,956,566 (GRCm39) H181R probably damaging Het
Dlgap1 A G 17: 71,025,205 (GRCm39) S542G probably benign Het
Dnm2 T G 9: 21,390,203 (GRCm39) L402R probably damaging Het
Fndc3b C A 3: 27,697,144 (GRCm39) V23L probably benign Het
Gata4 A C 14: 63,478,048 (GRCm39) F184V probably damaging Het
Gcnt2 A G 13: 41,072,268 (GRCm39) R304G probably damaging Het
Gm10563 TTTC TTTCCTTC 4: 155,698,969 (GRCm39) probably benign Het
Gm26558 G A 2: 70,491,873 (GRCm39) probably benign Het
Grip1 G A 10: 119,922,874 (GRCm39) V1107I probably benign Het
Herpud2 C T 9: 25,036,256 (GRCm39) G135S probably benign Het
Lrp1 A G 10: 127,429,747 (GRCm39) I441T probably damaging Het
Lrp1b T C 2: 40,793,015 (GRCm39) D2553G probably damaging Het
Mkln1 T A 6: 31,467,416 (GRCm39) N43K possibly damaging Het
Or4c12 A T 2: 89,773,780 (GRCm39) Y226* probably null Het
Or5k17 T C 16: 58,746,764 (GRCm39) T57A possibly damaging Het
Paxbp1 C T 16: 90,841,240 (GRCm39) M1I probably null Het
Phip A G 9: 82,827,936 (GRCm39) Y97H probably damaging Het
Plec T A 15: 76,058,211 (GRCm39) I3774F probably damaging Het
Pramel11 G T 4: 143,622,237 (GRCm39) P373T probably damaging Het
Prrc2c C A 1: 162,533,151 (GRCm39) probably benign Het
Prss12 T C 3: 123,299,112 (GRCm39) L628P probably damaging Het
Ptpre G A 7: 135,280,030 (GRCm39) V578I probably benign Het
Qsox2 A T 2: 26,107,710 (GRCm39) L261H probably damaging Het
Rapgef2 A T 3: 78,977,366 (GRCm39) V1327E possibly damaging Het
Rnf216 A G 5: 143,075,967 (GRCm39) S306P probably benign Het
Rtel1 A G 2: 180,993,888 (GRCm39) Q640R possibly damaging Het
Ryr1 T A 7: 28,815,023 (GRCm39) D175V probably benign Het
Scarf1 T C 11: 75,414,900 (GRCm39) S525P probably damaging Het
Senp7 T A 16: 56,006,542 (GRCm39) Y982* probably null Het
Slc35b2 T C 17: 45,877,424 (GRCm39) Y184H probably damaging Het
Sned1 A G 1: 93,223,446 (GRCm39) K1375E possibly damaging Het
Spats2 G T 15: 99,076,422 (GRCm39) A167S probably benign Het
Spen C A 4: 141,215,390 (GRCm39) A481S unknown Het
Srsf4 T A 4: 131,613,617 (GRCm39) probably benign Het
Tdrd3 A T 14: 87,743,234 (GRCm39) H394L probably benign Het
Terf1 A G 1: 15,889,310 (GRCm39) probably null Het
Txlnb A T 10: 17,675,144 (GRCm39) D99V possibly damaging Het
Ugt1a7c A T 1: 88,023,231 (GRCm39) N130I possibly damaging Het
Vmn2r50 T A 7: 9,781,752 (GRCm39) D331V probably damaging Het
Vps13d A G 4: 144,789,139 (GRCm39) I744T probably damaging Het
Ythdc1 A G 5: 86,983,547 (GRCm39) D664G probably damaging Het
Other mutations in Spred3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Spred3 APN 7 28,860,948 (GRCm39) utr 3 prime probably benign
IGL02391:Spred3 APN 7 28,865,830 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CTGATTGAACAGCCAGAGAAGC -3'
(R):5'- TAGGGAGAACGCTCAAACCG -3'

Sequencing Primer
(F):5'- GCAGAGGACAGGAGCTTCC -3'
(R):5'- CAAGATTTGAGTTCACGGCC -3'
Posted On 2016-07-22