Incidental Mutation 'R2915:Spred2'
ID 254854
Institutional Source Beutler Lab
Gene Symbol Spred2
Ensembl Gene ENSMUSG00000045671
Gene Name sprouty-related EVH1 domain containing 2
Synonyms Spred-2
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.442) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 19874442-19974026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19948215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
Ref Sequence ENSEMBL: ENSMUSP00000090988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093298] [ENSMUST00000093299] [ENSMUST00000123036]
AlphaFold Q924S7
Predicted Effect probably damaging
Transcript: ENSMUST00000093298
AA Change: V41A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090987
Gene: ENSMUSG00000045671
AA Change: V41A

DomainStartEndE-ValueType
Pfam:WH1 6 119 4.7e-13 PFAM
Pfam:Sprouty 298 403 3.8e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000093299
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090988
Gene: ENSMUSG00000045671
AA Change: V41A

DomainStartEndE-ValueType
Pfam:WH1 91 146 4.1e-10 PFAM
Pfam:Sprouty 325 430 8.6e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123036
AA Change: V70A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115103
Gene: ENSMUSG00000045671
AA Change: V70A

DomainStartEndE-ValueType
Pfam:WH1 120 175 1.5e-10 PFAM
Meta Mutation Damage Score 0.7338 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null mice are fertile and display increased hematopoietic cell formation in culture. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null Het
Other mutations in Spred2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0512:Spred2 UTSW 11 19,958,485 (GRCm39) splice site probably benign
R0944:Spred2 UTSW 11 19,951,104 (GRCm39) splice site probably benign
R1467:Spred2 UTSW 11 19,968,109 (GRCm39) missense probably benign 0.00
R1467:Spred2 UTSW 11 19,968,109 (GRCm39) missense probably benign 0.00
R2156:Spred2 UTSW 11 19,971,241 (GRCm39) missense probably damaging 1.00
R3433:Spred2 UTSW 11 19,948,277 (GRCm39) nonsense probably null
R4839:Spred2 UTSW 11 19,948,233 (GRCm39) missense possibly damaging 0.53
R5100:Spred2 UTSW 11 19,971,291 (GRCm39) nonsense probably null
R5353:Spred2 UTSW 11 19,968,155 (GRCm39) missense possibly damaging 0.82
R5529:Spred2 UTSW 11 19,971,301 (GRCm39) missense probably damaging 1.00
R5709:Spred2 UTSW 11 19,971,415 (GRCm39) missense probably damaging 1.00
R6978:Spred2 UTSW 11 19,948,254 (GRCm39) missense possibly damaging 0.73
R7345:Spred2 UTSW 11 19,874,958 (GRCm39) critical splice donor site probably null
R8073:Spred2 UTSW 11 19,958,422 (GRCm39) missense probably benign 0.45
R8847:Spred2 UTSW 11 19,951,064 (GRCm39) missense probably benign 0.03
R8888:Spred2 UTSW 11 19,951,019 (GRCm39) missense probably benign 0.11
R8895:Spred2 UTSW 11 19,951,019 (GRCm39) missense probably benign 0.11
X0025:Spred2 UTSW 11 19,948,234 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAGTCCGGGTTATTGTCAGGTC -3'
(R):5'- CCAAGCGACTGTACTGGAAAG -3'

Sequencing Primer
(F):5'- GTCAGGTCTATTTCTGCAGACAAGTC -3'
(R):5'- CGACTGTACTGGAAAGGGAAGC -3'
Posted On 2014-12-29