Incidental Mutation 'G1citation:Spry2'
ID 660749
Institutional Source Beutler Lab
Gene Symbol Spry2
Ensembl Gene ENSMUSG00000022114
Gene Name sprouty RTK signaling antagonist 2
Synonyms sprouty2
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # G1citation (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 106129381-106134253 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 106130791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 132 (Q132*)
Ref Sequence ENSEMBL: ENSMUSP00000022709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022709]
AlphaFold Q9QXV8
Predicted Effect probably null
Transcript: ENSMUST00000022709
AA Change: Q132*
SMART Domains Protein: ENSMUSP00000022709
Gene: ENSMUSG00000022114
AA Change: Q132*

DomainStartEndE-ValueType
low complexity region 107 130 N/A INTRINSIC
Pfam:Sprouty 183 301 2.8e-38 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 94% (46/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 G A 11: 102,667,501 (GRCm39) R687Q possibly damaging Het
AI987944 A G 7: 41,024,232 (GRCm39) L249P probably damaging Het
Ankrd28 T A 14: 31,458,797 (GRCm39) probably null Het
Bahcc1 T C 11: 120,178,547 (GRCm39) S2369P probably damaging Het
Birc6 T C 17: 74,887,377 (GRCm39) S902P possibly damaging Het
Birc6 A T 17: 74,905,039 (GRCm39) K1277N probably damaging Het
Brwd1 T C 16: 95,842,474 (GRCm39) E821G probably benign Het
Cct8l1 T C 5: 25,722,937 (GRCm39) S551P possibly damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cyp2c39 A T 19: 39,525,261 (GRCm39) D188V probably damaging Het
Dclk3 G T 9: 111,268,405 (GRCm39) A25S probably benign Het
Dpep2 A T 8: 106,711,873 (GRCm39) M518K probably benign Het
Dst T C 1: 34,314,755 (GRCm39) V6462A probably damaging Het
Entpd3 T C 9: 120,391,104 (GRCm39) probably null Het
Epm2aip1 T C 9: 111,101,624 (GRCm39) V199A probably damaging Het
Fam193b A G 13: 55,689,504 (GRCm39) probably benign Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fcgbp T A 7: 27,806,781 (GRCm39) Y2250N probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
H2-Aa C T 17: 34,506,651 (GRCm39) probably null Het
Igsf9 T A 1: 172,324,730 (GRCm39) S883T possibly damaging Het
Kcnh7 T G 2: 62,618,248 (GRCm39) I414L probably damaging Het
Kcnma1 T C 14: 24,053,812 (GRCm39) probably null Het
Kcnmb1 T C 11: 33,914,686 (GRCm39) probably benign Het
Kmt2d A G 15: 98,747,340 (GRCm39) probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Nlgn1 T C 3: 26,187,796 (GRCm39) T30A probably benign Het
Nucb1 A G 7: 45,148,289 (GRCm39) F175L probably damaging Het
Pax6 T A 2: 105,516,268 (GRCm39) V182E probably benign Het
Ptger1 A G 8: 84,395,279 (GRCm39) D252G probably benign Het
Rexo4 T C 2: 26,850,283 (GRCm39) D275G probably damaging Het
Ripk4 T C 16: 97,547,236 (GRCm39) D342G probably damaging Het
Rpl10l A T 12: 66,330,987 (GRCm39) C49S possibly damaging Het
Sema7a T C 9: 57,867,619 (GRCm39) F457S probably damaging Het
Shank3 G A 15: 89,415,830 (GRCm39) D155N probably damaging Het
Smpd3 G A 8: 106,992,596 (GRCm39) probably benign Het
Smpd4 T C 16: 17,458,097 (GRCm39) V465A probably damaging Het
Sohlh2 T C 3: 55,115,107 (GRCm39) V364A probably damaging Het
Sos2 C T 12: 69,697,423 (GRCm39) R99Q probably damaging Het
Tbx19 G T 1: 164,967,709 (GRCm39) P346Q probably damaging Het
Tdrd6 A G 17: 43,938,106 (GRCm39) Y981H probably damaging Het
Tinag T C 9: 76,938,984 (GRCm39) K165E probably benign Het
Tubb4a A T 17: 57,387,904 (GRCm39) I374N probably damaging Het
Umodl1 C T 17: 31,205,528 (GRCm39) Q708* probably null Het
Vmn2r3 A T 3: 64,194,876 (GRCm39) V14E probably benign Het
Zfp82 G A 7: 29,755,712 (GRCm39) L457F probably damaging 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
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
R5355:Spry2 UTSW 14 106,130,712 (GRCm39) missense probably damaging 0.97
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'- AGGTGCACTCCTTACACTTGC -3'
(R):5'- CAATGAGTACACAGAGGGCC -3'

Sequencing Primer
(F):5'- ACACTTGCACTTGCCGCAG -3'
(R):5'- AGTACACAGAGGGCCCTACTG -3'
Posted On 2021-02-01