Incidental Mutation 'R5665:Spred1'
ID 444313
Institutional Source Beutler Lab
Gene Symbol Spred1
Ensembl Gene ENSMUSG00000027351
Gene Name sprouty protein with EVH-1 domain 1, related sequence
Synonyms 5730461F13Rik, Spred-1
MMRRC Submission 043308-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R5665 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 117121374-117182279 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 117153005 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 16 (R16*)
Ref Sequence ENSEMBL: ENSMUSP00000106526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028829] [ENSMUST00000110901]
AlphaFold Q924S8
Predicted Effect probably null
Transcript: ENSMUST00000028829
AA Change: R16*
SMART Domains Protein: ENSMUSP00000028829
Gene: ENSMUSG00000027351
AA Change: R16*

Pfam:WH1 10 120 9.3e-15 PFAM
Pfam:Sprouty 332 437 6e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110901
AA Change: R16*
SMART Domains Protein: ENSMUSP00000106526
Gene: ENSMUSG00000027351
AA Change: R16*

Pfam:WH1 9 120 2.5e-15 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,426,349 (GRCm38) V173M probably damaging Het
Acaca G T 11: 84,245,294 (GRCm38) E492* probably null Het
Acp7 T A 7: 28,616,543 (GRCm38) K206M probably benign Het
Agbl1 T A 7: 76,589,503 (GRCm38) F584I probably damaging Het
Ahi1 A G 10: 21,055,047 (GRCm38) I929V possibly damaging Het
Ank3 G A 10: 70,002,565 (GRCm38) R1566K possibly damaging Het
Arhgef40 A G 14: 52,000,900 (GRCm38) I1279V possibly damaging Het
Arl14 A C 3: 69,223,038 (GRCm38) T173P probably damaging Het
Asap1 A G 15: 64,312,453 (GRCm38) S44P probably damaging Het
Btbd7 C A 12: 102,785,197 (GRCm38) A1103S probably benign Het
Capn10 T A 1: 92,937,931 (GRCm38) probably null Het
Capn7 T C 14: 31,369,802 (GRCm38) F719L probably benign Het
Casp7 G A 19: 56,440,982 (GRCm38) D267N probably benign Het
Ccdc13 C A 9: 121,814,290 (GRCm38) K348N probably damaging Het
Chchd1 T C 14: 20,703,110 (GRCm38) F13L probably benign Het
Clcn6 T A 4: 148,014,561 (GRCm38) M442L possibly damaging Het
Col6a3 T C 1: 90,827,880 (GRCm38) E229G probably benign Het
Cyb5r3 A G 15: 83,154,554 (GRCm38) F278S probably damaging Het
Dhx16 C T 17: 35,891,086 (GRCm38) Q1002* probably null Het
Dppa4 T C 16: 48,291,015 (GRCm38) L121P probably benign Het
Dpyd A G 3: 118,917,092 (GRCm38) E383G probably damaging Het
Eif4g3 A G 4: 138,126,589 (GRCm38) T489A probably benign Het
Elovl1 G T 4: 118,431,635 (GRCm38) V174L probably damaging Het
Elp3 T C 14: 65,551,402 (GRCm38) K392E possibly damaging Het
Fancd2os C A 6: 113,598,024 (GRCm38) W7L probably damaging Het
Fchsd2 A G 7: 101,110,784 (GRCm38) T23A possibly damaging Het
Gabrp C G 11: 33,554,308 (GRCm38) A336P possibly damaging Het
Gcm2 T A 13: 41,109,911 (GRCm38) Y15F possibly damaging Het
Gpr132 G A 12: 112,852,796 (GRCm38) R137C probably damaging Het
Herc1 A G 9: 66,465,435 (GRCm38) E3091G probably damaging Het
Homer1 A T 13: 93,356,102 (GRCm38) M184L probably benign Het
Izumo1r T C 9: 14,900,849 (GRCm38) E117G probably damaging Het
Kcnt1 C T 2: 25,901,909 (GRCm38) Q590* probably null Het
Lama1 G T 17: 67,770,987 (GRCm38) C1139F probably damaging Het
Med29 C T 7: 28,386,814 (GRCm38) A190T probably benign Het
Muc4 T C 16: 32,750,782 (GRCm38) V220A probably benign Het
Mxra8 G T 4: 155,842,921 (GRCm38) V388L probably benign Het
Myo5a T C 9: 75,144,181 (GRCm38) probably null Het
Myrip A G 9: 120,461,433 (GRCm38) Y706C probably damaging Het
Nphp4 T C 4: 152,506,485 (GRCm38) V313A probably benign Het
Oga A C 19: 45,776,997 (GRCm38) S124A probably benign Het
Olfm2 T G 9: 20,668,544 (GRCm38) probably null Het
Or10ag52 T A 2: 87,213,728 (GRCm38) S279T probably benign Het
Or10x4 T C 1: 174,391,375 (GRCm38) F102S probably damaging Het
Pcdh15 C T 10: 74,626,788 (GRCm38) P1398L probably damaging Het
Pdpr A G 8: 111,114,811 (GRCm38) E225G possibly damaging Het
Pigs C A 11: 78,328,769 (GRCm38) probably null Het
Pkhd1 T A 1: 20,588,531 (GRCm38) T159S probably damaging Het
Plk4 A G 3: 40,813,586 (GRCm38) T87A possibly damaging Het
Plxna4 T C 6: 32,215,722 (GRCm38) Y768C probably damaging Het
Prl3d3 T A 13: 27,159,081 (GRCm38) probably null Het
Pygb T C 2: 150,820,888 (GRCm38) probably null Het
Rnf114 T C 2: 167,510,934 (GRCm38) I118T possibly damaging Het
Sbno2 A G 10: 80,058,453 (GRCm38) L1099P probably benign Het
Scaper T C 9: 55,807,632 (GRCm38) K791E probably damaging Het
Serping1 T C 2: 84,771,545 (GRCm38) T194A probably damaging Het
Slc12a9 A G 5: 137,321,403 (GRCm38) S617P possibly damaging Het
Slk G A 19: 47,636,457 (GRCm38) R1039H probably damaging Het
Sntb1 T A 15: 55,792,139 (GRCm38) E227V probably benign Het
Sostdc1 C A 12: 36,314,408 (GRCm38) P39T probably benign Het
Srpk2 A G 5: 23,518,477 (GRCm38) I547T probably damaging Het
Stt3a A G 9: 36,759,314 (GRCm38) Y54H probably damaging Het
Stt3b A T 9: 115,266,147 (GRCm38) L272H probably damaging Het
Syne2 T A 12: 76,108,217 (GRCm38) probably null Het
Uso1 A T 5: 92,198,337 (GRCm38) E793V possibly damaging Het
Usp15 A T 10: 123,130,987 (GRCm38) L476* probably null Het
Vmn1r189 T C 13: 22,102,166 (GRCm38) Y167C probably damaging Het
Vmn2r24 A G 6: 123,786,979 (GRCm38) T272A possibly damaging Het
Vps13a A T 19: 16,668,690 (GRCm38) H1994Q probably damaging Het
Zbtb10 T C 3: 9,265,192 (GRCm38) S537P probably damaging Het
Zbtb12 T C 17: 34,895,883 (GRCm38) S215P possibly damaging Het
Zfp346 T C 13: 55,113,102 (GRCm38) M81T probably benign Het
Zfp800 T C 6: 28,244,513 (GRCm38) D151G probably null Het
Other mutations in Spred1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00674:Spred1 APN 2 117,177,858 (GRCm38) missense probably damaging 1.00
IGL01838:Spred1 APN 2 117,177,581 (GRCm38) missense probably benign 0.01
R0482:Spred1 UTSW 2 117,152,978 (GRCm38) splice site probably null
R1186:Spred1 UTSW 2 117,177,697 (GRCm38) missense possibly damaging 0.93
R1293:Spred1 UTSW 2 117,177,408 (GRCm38) missense probably damaging 1.00
R1617:Spred1 UTSW 2 117,175,347 (GRCm38) missense probably benign 0.00
R3499:Spred1 UTSW 2 117,175,386 (GRCm38) missense probably benign
R4711:Spred1 UTSW 2 117,175,385 (GRCm38) missense probably benign 0.00
R5137:Spred1 UTSW 2 117,163,571 (GRCm38) missense probably damaging 1.00
R5162:Spred1 UTSW 2 117,177,621 (GRCm38) missense possibly damaging 0.84
R5517:Spred1 UTSW 2 117,177,714 (GRCm38) missense probably damaging 0.99
R7577:Spred1 UTSW 2 117,177,325 (GRCm38) missense probably benign 0.09
R7769:Spred1 UTSW 2 117,177,449 (GRCm38) missense probably benign
R9233:Spred1 UTSW 2 117,172,163 (GRCm38) missense unknown
R9292:Spred1 UTSW 2 117,175,351 (GRCm38) missense probably benign 0.11
R9465:Spred1 UTSW 2 117,153,167 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-11-09