Incidental Mutation 'R5355:Spry2'
ID 424061
Institutional Source Beutler Lab
Gene Symbol Spry2
Ensembl Gene ENSMUSG00000022114
Gene Name sprouty RTK signaling antagonist 2
Synonyms sprouty2
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R5355 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 106129381-106134253 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106130712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 158 (L158P)
Ref Sequence ENSEMBL: ENSMUSP00000022709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022709]
AlphaFold Q9QXV8
Predicted Effect probably damaging
Transcript: ENSMUST00000022709
AA Change: L158P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022709
Gene: ENSMUSG00000022114
AA Change: L158P

DomainStartEndE-ValueType
low complexity region 107 130 N/A INTRINSIC
Pfam:Sprouty 183 301 2.8e-38 PFAM
Meta Mutation Damage Score 0.2055 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit enteric nerve hyperplasia which led to esophangeal achalasia and intestinal pseudo-obstruction. Mice also have intermediate to severe hearing loss with abnormalities in the organ of Corti and about half die prematurely. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
Atxn10 T A 15: 85,346,515 (GRCm39) N424K probably damaging Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
Gm4787 T A 12: 81,424,239 (GRCm39) R640* probably null Het
H2bc13 A T 13: 21,900,030 (GRCm39) I95N probably damaging Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Parva T C 7: 112,143,475 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Sfswap C T 5: 129,616,810 (GRCm39) T418I probably benign Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zp3r A G 1: 130,524,518 (GRCm39) F175S probably benign Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K probably benign Het
Other mutations in Spry2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:Spry2 APN 14 106,130,488 (GRCm39) missense probably damaging 1.00
Eagle UTSW 14 106,130,791 (GRCm39) nonsense probably null
Osprey UTSW 14 106,130,418 (GRCm39) missense possibly damaging 0.92
G1citation:Spry2 UTSW 14 106,130,791 (GRCm39) nonsense probably null
R0016:Spry2 UTSW 14 106,130,731 (GRCm39) missense probably benign 0.08
R0594:Spry2 UTSW 14 106,130,744 (GRCm39) missense possibly damaging 0.50
R0843:Spry2 UTSW 14 106,130,524 (GRCm39) missense probably damaging 1.00
R0943:Spry2 UTSW 14 106,131,021 (GRCm39) missense probably damaging 1.00
R1186:Spry2 UTSW 14 106,130,341 (GRCm39) missense probably damaging 1.00
R4052:Spry2 UTSW 14 106,130,635 (GRCm39) missense probably damaging 1.00
R6306:Spry2 UTSW 14 106,130,418 (GRCm39) missense possibly damaging 0.92
R6822:Spry2 UTSW 14 106,130,791 (GRCm39) nonsense probably null
R7347:Spry2 UTSW 14 106,130,946 (GRCm39) missense probably damaging 1.00
R8424:Spry2 UTSW 14 106,130,836 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AATGACGTTCTGGGCTGAGC -3'
(R):5'- CATGAAAGACTCCACGGTCTGC -3'

Sequencing Primer
(F):5'- CAGAGGCACTGCTTGTCACAG -3'
(R):5'- GCAGGTCCATTCTTCACGG -3'
Posted On 2016-08-04