Incidental Mutation 'R4711:Spred1'
ID 353253
Institutional Source Beutler Lab
Gene Symbol Spred1
Ensembl Gene ENSMUSG00000027351
Gene Name sprouty protein with EVH-1 domain 1, related sequence
Synonyms Spred-1, 5730461F13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R4711 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 116951855-117012760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 117005866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 209 (S209R)
Ref Sequence ENSEMBL: ENSMUSP00000028829 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028829] [ENSMUST00000110901]
AlphaFold Q924S8
Predicted Effect probably benign
Transcript: ENSMUST00000028829
AA Change: S209R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028829
Gene: ENSMUSG00000027351
AA Change: S209R

DomainStartEndE-ValueType
Pfam:WH1 10 120 9.3e-15 PFAM
Pfam:Sprouty 332 437 6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110901
SMART Domains Protein: ENSMUSP00000106526
Gene: ENSMUSG00000027351

DomainStartEndE-ValueType
Pfam:WH1 9 120 2.5e-15 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a membrane-associated protein that is phosphorylated by tyrosine kinases in response to growth factors. The encoded protein acts as a negative regulator of the mitogen-activated protein (MAP) kinase signaling pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous null mice display increased airway hyperresponsiveness, eosinophilia, a kinked tail, shortened face, impaired spatial learning and memory, and altered CNS transmission. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Bin3 A G 14: 70,366,288 (GRCm39) probably null Het
Ccser1 A G 6: 61,288,910 (GRCm39) N358D possibly damaging Het
Col20a1 G C 2: 180,634,284 (GRCm39) G83A probably damaging Het
Copa T G 1: 171,947,555 (GRCm39) F1124V probably damaging Het
Cyp2c66 G A 19: 39,151,843 (GRCm39) R186H possibly damaging Het
Dmxl2 G A 9: 54,358,208 (GRCm39) T323M probably benign Het
Dner T C 1: 84,361,618 (GRCm39) I664V possibly damaging Het
Erp29 A G 5: 121,583,293 (GRCm39) I211T possibly damaging Het
Exd1 A G 2: 119,369,232 (GRCm39) S128P possibly damaging Het
Grik4 T A 9: 42,540,389 (GRCm39) N264Y probably damaging Het
Gsdma2 T A 11: 98,540,439 (GRCm39) S119R probably damaging Het
H2ac1 C T 13: 24,118,796 (GRCm39) P118S possibly damaging Het
Ift140 T A 17: 25,313,691 (GRCm39) probably null Het
Ino80c T C 18: 24,247,222 (GRCm39) N59S probably benign Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mast4 A G 13: 103,470,627 (GRCm39) V25A probably benign Het
Mr1 T C 1: 155,012,336 (GRCm39) T193A probably benign Het
Muc5b C A 7: 141,399,770 (GRCm39) F414L unknown Het
Nat10 A T 2: 103,578,612 (GRCm39) C197* probably null Het
Nt5c1b A G 12: 10,420,093 (GRCm39) K11E probably damaging Het
Or5k8 A T 16: 58,645,069 (GRCm39) M1K probably null Het
Or8i2 T C 2: 86,852,370 (GRCm39) I173V probably damaging Het
Pak5 A G 2: 135,929,437 (GRCm39) I582T probably damaging Het
Pcdha12 A G 18: 37,153,976 (GRCm39) I232V probably benign Het
Pde8b T A 13: 95,166,958 (GRCm39) T664S probably benign Het
Pdik1l G C 4: 134,006,301 (GRCm39) R214G probably benign Het
Prss37 C T 6: 40,492,381 (GRCm39) V157M probably benign Het
Psma5-ps A G 10: 85,149,667 (GRCm39) noncoding transcript Het
Ring1 T C 17: 34,241,333 (GRCm39) E261G possibly damaging Het
Sf3a3 C A 4: 124,621,974 (GRCm39) D371E probably benign Het
Spag9 T A 11: 94,005,177 (GRCm39) probably null Het
Tas2r121 T C 6: 132,677,853 (GRCm39) T40A probably benign Het
Tbc1d5 T C 17: 51,242,537 (GRCm39) T187A probably damaging Het
Tenm2 C T 11: 36,191,039 (GRCm39) V311I probably damaging Het
Thoc2l T C 5: 104,667,527 (GRCm39) V683A probably damaging Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Trappc14 T C 5: 138,261,167 (GRCm39) probably benign Het
Ttn G A 2: 76,660,404 (GRCm39) A7439V possibly damaging Het
Wdr64 T C 1: 175,626,795 (GRCm39) I838T probably damaging Het
Wdr7 A G 18: 63,861,536 (GRCm39) T183A probably benign Het
Other mutations in Spred1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Spred1 APN 2 117,008,339 (GRCm39) missense probably damaging 1.00
IGL01838:Spred1 APN 2 117,008,062 (GRCm39) missense probably benign 0.01
R0482:Spred1 UTSW 2 116,983,459 (GRCm39) splice site probably null
R1186:Spred1 UTSW 2 117,008,178 (GRCm39) missense possibly damaging 0.93
R1293:Spred1 UTSW 2 117,007,889 (GRCm39) missense probably damaging 1.00
R1617:Spred1 UTSW 2 117,005,828 (GRCm39) missense probably benign 0.00
R3499:Spred1 UTSW 2 117,005,867 (GRCm39) missense probably benign
R5137:Spred1 UTSW 2 116,994,052 (GRCm39) missense probably damaging 1.00
R5162:Spred1 UTSW 2 117,008,102 (GRCm39) missense possibly damaging 0.84
R5517:Spred1 UTSW 2 117,008,195 (GRCm39) missense probably damaging 0.99
R5665:Spred1 UTSW 2 116,983,486 (GRCm39) nonsense probably null
R7577:Spred1 UTSW 2 117,007,806 (GRCm39) missense probably benign 0.09
R7769:Spred1 UTSW 2 117,007,930 (GRCm39) missense probably benign
R9233:Spred1 UTSW 2 117,002,644 (GRCm39) missense unknown
R9292:Spred1 UTSW 2 117,005,832 (GRCm39) missense probably benign 0.11
R9465:Spred1 UTSW 2 116,983,648 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTGCTGTTTATTAAAAGAGGGCTGG -3'
(R):5'- AACAATATTCCAGTTCCTGTTTGTC -3'

Sequencing Primer
(F):5'- GGCTTGTTAGACATGACTTT -3'
(R):5'- TCTGATGATGCAATTCAAAAGCCAC -3'
Posted On 2015-10-21