Incidental Mutation 'R1617:Spred1'
ID 174333
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 039654-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # R1617 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 116951855-117012760 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 117005828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 197 (P197S)
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: P197S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028829
Gene: ENSMUSG00000027351
AA Change: P197S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency 98% (83/85)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,603,473 (GRCm39) I91K probably damaging Het
AAdacl4fm3 T G 4: 144,441,961 (GRCm39) T97P probably damaging Het
Adamts16 T A 13: 70,946,154 (GRCm39) M254L probably benign Het
Adgre5 T C 8: 84,456,806 (GRCm39) I192V possibly damaging Het
Akr1c21 G A 13: 4,626,351 (GRCm39) probably null Het
Amz2 A G 11: 109,324,850 (GRCm39) T245A probably benign Het
Aqp7 A C 4: 41,036,109 (GRCm39) M43R probably null Het
Arid3c G A 4: 41,725,103 (GRCm39) P315S probably damaging Het
Birc2 A T 9: 7,826,952 (GRCm39) Y345N possibly damaging Het
Blnk T C 19: 40,950,807 (GRCm39) T115A probably benign Het
Col5a1 T C 2: 27,842,393 (GRCm39) S423P unknown Het
Corin A T 5: 72,661,295 (GRCm39) F66Y possibly damaging Het
Cpd A T 11: 76,737,495 (GRCm39) W100R probably damaging Het
Cpsf1 A T 15: 76,486,570 (GRCm39) Y296* probably null Het
Cyp2d34 T C 15: 82,505,046 (GRCm39) T5A probably benign Het
Dhrs7c G T 11: 67,705,903 (GRCm39) V219L possibly damaging Het
Dnah3 T C 7: 119,689,169 (GRCm39) M82V probably benign Het
Dnah9 A G 11: 65,786,747 (GRCm39) S3629P probably damaging Het
Fbrs T C 7: 127,086,883 (GRCm39) L33P probably damaging Het
Fhip1b A G 7: 105,034,269 (GRCm39) L454P probably damaging Het
Galnt11 T A 5: 25,463,891 (GRCm39) S388T probably damaging Het
Glmp A G 3: 88,235,426 (GRCm39) probably benign Het
Gm9894 A G 13: 67,920,845 (GRCm39) noncoding transcript Het
Grik3 A G 4: 125,584,985 (GRCm39) M618V probably benign Het
Hmcn1 T C 1: 150,620,778 (GRCm39) D1144G probably damaging Het
Hnrnpa2b1 T C 6: 51,443,378 (GRCm39) K161R possibly damaging Het
Kmt2c T C 5: 25,580,925 (GRCm39) I523V probably benign Het
Lmln C T 16: 32,937,500 (GRCm39) P622S probably damaging Het
Lmtk2 A G 5: 144,110,680 (GRCm39) T467A probably damaging Het
Map1s T A 8: 71,366,095 (GRCm39) N333K probably damaging Het
Mgat4d C A 8: 84,092,340 (GRCm39) A242D probably damaging Het
Muc5b T A 7: 141,417,261 (GRCm39) Y3402* probably null Het
Myo3b G T 2: 70,111,562 (GRCm39) A922S probably benign Het
Nphs1 T C 7: 30,181,956 (GRCm39) V1183A probably benign Het
Nup160 T A 2: 90,509,843 (GRCm39) C31S probably benign Het
Or4c58 T C 2: 89,674,598 (GRCm39) T240A probably benign Het
Or8k25 A T 2: 86,244,035 (GRCm39) Y120* probably null Het
Pcdhb5 T G 18: 37,454,455 (GRCm39) Y278* probably null Het
Pkhd1 T A 1: 20,268,274 (GRCm39) E3368V possibly damaging Het
Pla2g6 A G 15: 79,173,341 (GRCm39) M676T probably benign Het
Plcb1 A T 2: 135,179,361 (GRCm39) N590Y probably damaging Het
Prr12 G A 7: 44,699,018 (GRCm39) probably benign Het
Psat1 A G 19: 15,901,666 (GRCm39) probably null Het
Ptpn9 T G 9: 56,934,692 (GRCm39) I152S possibly damaging Het
Ric8b T A 10: 84,783,475 (GRCm39) F111Y probably damaging Het
Slc44a3 G A 3: 121,254,914 (GRCm39) A568V probably benign Het
Smarcd3 T G 5: 24,800,192 (GRCm39) R213S probably damaging Het
Snx13 T C 12: 35,136,895 (GRCm39) Y119H probably damaging Het
Socs2 C A 10: 95,248,943 (GRCm39) E57* probably null Het
Srek1 G T 13: 103,880,112 (GRCm39) P482Q unknown Het
Tapbp A G 17: 34,139,405 (GRCm39) T134A probably benign Het
Tarbp1 T C 8: 127,171,007 (GRCm39) I998V possibly damaging Het
Tbcel G T 9: 42,372,589 (GRCm39) probably benign Het
Tec A G 5: 72,939,448 (GRCm39) F189S probably damaging Het
Tmprss11g A T 5: 86,647,422 (GRCm39) Y39N probably damaging Het
Tmtc1 A G 6: 148,256,902 (GRCm39) probably benign Het
Trpa1 A G 1: 14,943,899 (GRCm39) I1070T probably damaging Het
Trpm2 T A 10: 77,771,709 (GRCm39) probably null Het
Ttc21b G T 2: 66,056,379 (GRCm39) T669K probably benign Het
Ttll4 G A 1: 74,718,560 (GRCm39) R137H probably benign Het
Ubqln3 G T 7: 103,792,067 (GRCm39) L8I possibly damaging Het
Ung C A 5: 114,269,415 (GRCm39) N42K probably benign Het
Upp1 T C 11: 9,084,865 (GRCm39) S195P probably damaging Het
Urb1 T C 16: 90,557,340 (GRCm39) E1762G possibly damaging Het
Utp11 T C 4: 124,579,904 (GRCm39) K35E probably damaging Het
Vav3 A T 3: 109,418,294 (GRCm39) K305I probably damaging Het
Vmn1r197 A G 13: 22,512,498 (GRCm39) I140V possibly damaging Het
Vmn2r-ps158 A G 7: 42,673,503 (GRCm39) E187G probably benign Het
Zfc3h1 A G 10: 115,226,827 (GRCm39) T295A probably benign Het
Zfp268 A T 4: 145,350,877 (GRCm39) probably benign Het
Zfp46 T C 4: 136,017,823 (GRCm39) L219P probably damaging Het
Zfp493 G A 13: 67,931,999 (GRCm39) V33M probably damaging Het
Zfp92 T C X: 72,463,466 (GRCm39) 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
R3499:Spred1 UTSW 2 117,005,867 (GRCm39) missense probably benign
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'- CTGCCTTGTTTGTTGCAGGATGTTAC -3'
(R):5'- AGCCACTCAGGTTGAATGGAGTGT -3'

Sequencing Primer
(F):5'- cgctatccctccagccc -3'
(R):5'- TGTAGACATACAGATGCGGC -3'
Posted On 2014-04-24