Incidental Mutation 'R0843:Spry2'
ID 77265
Institutional Source Beutler Lab
Gene Symbol Spry2
Ensembl Gene ENSMUSG00000022114
Gene Name sprouty RTK signaling antagonist 2
Synonyms sprouty2
MMRRC Submission 039022-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.900) question?
Stock # R0843 (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 106130524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 221 (C221R)
Ref Sequence ENSEMBL: ENSMUSP00000022709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022709]
AlphaFold Q9QXV8
Predicted Effect probably damaging
Transcript: ENSMUST00000022709
AA Change: C221R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022709
Gene: ENSMUSG00000022114
AA Change: C221R

DomainStartEndE-ValueType
low complexity region 107 130 N/A INTRINSIC
Pfam:Sprouty 183 301 2.8e-38 PFAM
Meta Mutation Damage Score 0.8977 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,142 (GRCm39) R228G probably benign Het
Arrdc3 T C 13: 81,038,922 (GRCm39) probably benign Het
Cacna1d T C 14: 29,846,828 (GRCm39) Y526C probably damaging Het
Cenpn T C 8: 117,660,045 (GRCm39) V125A probably benign Het
Cyfip1 A T 7: 55,572,568 (GRCm39) H963L probably benign Het
Dnah8 T C 17: 31,032,069 (GRCm39) Y4130H probably damaging Het
Dnmt3a T C 12: 3,922,886 (GRCm39) probably benign Het
Dync1h1 C T 12: 110,631,647 (GRCm39) T4448M possibly damaging Het
Efr3a T A 15: 65,709,272 (GRCm39) probably benign Het
Fgf11 T G 11: 69,689,602 (GRCm39) probably benign Het
Gabrr1 T A 4: 33,161,717 (GRCm39) I347N possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Hspa1b T A 17: 35,176,524 (GRCm39) N487I possibly damaging Het
Ifi207 A T 1: 173,555,143 (GRCm39) N853K probably damaging Het
Iqgap3 A G 3: 88,015,738 (GRCm39) D40G possibly damaging Het
Iyd T C 10: 3,495,663 (GRCm39) V107A possibly damaging Het
Kctd3 A T 1: 188,729,170 (GRCm39) L129* probably null Het
Myo7b A G 18: 32,107,137 (GRCm39) F1286S possibly damaging Het
Or4a47 C T 2: 89,665,960 (GRCm39) V110I probably benign Het
Or52s1b T A 7: 102,822,326 (GRCm39) T173S possibly damaging Het
Or8c15 T A 9: 38,120,579 (GRCm39) F77I possibly damaging Het
Pcsk5 T A 19: 17,632,182 (GRCm39) Y328F probably damaging Het
Plxnb1 T C 9: 108,942,769 (GRCm39) L1810P probably benign Het
Polr2h T A 16: 20,537,649 (GRCm39) V50E probably damaging Het
Ppm1g T C 5: 31,364,895 (GRCm39) probably benign Het
Ptpru T A 4: 131,525,259 (GRCm39) R741S probably benign Het
Pyroxd2 T C 19: 42,735,986 (GRCm39) E64G probably damaging Het
Rad54b T C 4: 11,609,471 (GRCm39) probably null Het
Rangap1 A T 15: 81,594,703 (GRCm39) D375E probably benign Het
Rhbdf1 G A 11: 32,165,053 (GRCm39) R107C probably damaging Het
Scaf11 T C 15: 96,329,706 (GRCm39) E140G probably damaging Het
Slitrk6 G T 14: 110,987,530 (GRCm39) H726N probably benign Het
Stx2 C T 5: 129,076,612 (GRCm39) V24M probably damaging Het
Tent5b T C 4: 133,213,842 (GRCm39) S238P probably damaging Het
Tll2 T A 19: 41,116,902 (GRCm39) probably null Het
Ttyh3 C A 5: 140,612,201 (GRCm39) probably null Het
Vmn2r116 T C 17: 23,619,934 (GRCm39) V556A probably benign Het
Xpo5 T C 17: 46,533,576 (GRCm39) probably benign Het
Zc3h3 A G 15: 75,709,328 (GRCm39) S514P probably benign Het
Zfp277 A C 12: 40,370,599 (GRCm39) probably null 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
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'- GGGCGGAGCAACAATCCCTATTAC -3'
(R):5'- AGCCACTGAGCAAGGATGATTTGG -3'

Sequencing Primer
(F):5'- CAGTGGGAACTTTGCAGC -3'
(R):5'- CTGGATCTGTGACAAGCAGT -3'
Posted On 2013-10-16