Incidental Mutation 'R3499:Spred1'
ID 273691
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
MMRRC Submission 040662-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.425) question?
Stock # R3499 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 116951855-117012760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117005867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 210 (M210L)
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: M210L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028829
Gene: ENSMUSG00000027351
AA Change: M210L

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
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430571L13Rik A T 9: 107,219,678 (GRCm39) T44S probably damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Ctif A T 18: 75,744,828 (GRCm39) L92Q possibly damaging Het
Dnah11 C A 12: 117,874,758 (GRCm39) D4036Y probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Dnah6 G C 6: 73,009,616 (GRCm39) A3725G probably benign Het
Ebag9 A G 15: 44,493,528 (GRCm39) N117D probably benign Het
Elf4 C T X: 47,507,942 (GRCm39) E158K probably benign Het
Ephb6 C T 6: 41,593,093 (GRCm39) R444* probably null Het
Fcgbpl1 T A 7: 27,853,980 (GRCm39) I1648K probably benign Het
Fndc1 C T 17: 7,972,416 (GRCm39) M1505I possibly damaging Het
Gpr35 A G 1: 92,911,113 (GRCm39) Y275C probably damaging Het
Hmcn1 A T 1: 150,480,853 (GRCm39) I4441N probably damaging Het
Kif13a T C 13: 46,978,815 (GRCm39) D195G probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ksr2 C A 5: 117,827,640 (GRCm39) T473K probably damaging Het
Kxd1 T C 8: 70,966,632 (GRCm39) probably null Het
Lyplal1 A G 1: 185,820,857 (GRCm39) S197P possibly damaging Het
Macf1 A T 4: 123,421,098 (GRCm39) L52* probably null Het
Mrgprb5 A G 7: 47,818,661 (GRCm39) S25P probably benign Het
Nucb1 T C 7: 45,148,300 (GRCm39) H171R probably benign Het
Or10d1c A G 9: 38,893,761 (GRCm39) L193P probably damaging Het
Or4a15 A T 2: 89,193,294 (GRCm39) F160I probably benign Het
Or56b35 G A 7: 104,963,607 (GRCm39) C132Y probably damaging Het
Or8h8 A G 2: 86,753,373 (GRCm39) F168L possibly damaging Het
Or8k18 A G 2: 86,085,185 (GRCm39) M284T possibly damaging Het
Prkdc A T 16: 15,585,889 (GRCm39) I2476F probably damaging Het
Ptprf A T 4: 118,082,127 (GRCm39) I1037N probably damaging Het
Ralgapa1 T G 12: 55,741,928 (GRCm39) probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc28a3 C T 13: 58,721,253 (GRCm39) probably benign Het
Slc44a4 A G 17: 35,140,656 (GRCm39) D283G probably benign Het
Slc6a9 A G 4: 117,714,000 (GRCm39) I105V probably benign Het
Smgc A G 15: 91,726,206 (GRCm39) T51A possibly damaging Het
Smyd5 T A 6: 85,415,172 (GRCm39) L60H probably damaging Het
Syne2 G A 12: 76,101,752 (GRCm39) probably null Het
Tab3 T C X: 84,658,727 (GRCm39) I418T probably benign Het
Tbc1d12 A T 19: 38,884,478 (GRCm39) E343V possibly damaging Het
Tktl2 T A 8: 66,965,897 (GRCm39) I485N probably damaging Het
Tmem181a T A 17: 6,330,894 (GRCm39) Y51* probably null Het
Tmem229b-ps C T 10: 53,351,223 (GRCm39) noncoding transcript Het
Trip11 A G 12: 101,859,953 (GRCm39) I307T possibly damaging Het
Ttf1 T C 2: 28,955,499 (GRCm39) S288P possibly damaging Het
Zfp395 G T 14: 65,628,742 (GRCm39) R198L possibly damaging 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
R4711:Spred1 UTSW 2 117,005,866 (GRCm39) missense probably benign 0.00
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'- CTGCTGTTTATTAAAAGAGGGCTG -3'
(R):5'- AACAATATTCCAGTTCCTGTTTGTC -3'

Sequencing Primer
(F):5'- GGGCTTGTTAGACATGACTT -3'
(R):5'- TCTGATGATGCAATTCAAAAGCCAC -3'
Posted On 2015-04-02