Incidental Mutation 'R7612:Spry4'
ID 588692
Institutional Source Beutler Lab
Gene Symbol Spry4
Ensembl Gene ENSMUSG00000024427
Gene Name sprouty RTK signaling antagonist 4
Synonyms A030006O18Rik, sprouty4
MMRRC Submission 045680-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R7612 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 38719300-38734400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38722982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 260 (K260N)
Ref Sequence ENSEMBL: ENSMUSP00000025295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025295]
AlphaFold Q9WTP2
Predicted Effect probably damaging
Transcript: ENSMUST00000025295
AA Change: K260N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025295
Gene: ENSMUSG00000024427
AA Change: K260N

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 92 108 N/A INTRINSIC
Pfam:Sprouty 165 284 3.3e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for two alleles of this locus display in limb deformation. Mice homozygous for a different allele display partial penetrance of diastema tooth formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,570,496 (GRCm39) Y181* probably null Het
Adgrf2 T G 17: 43,025,271 (GRCm39) K71T possibly damaging Het
Brca2 T A 5: 150,464,076 (GRCm39) M1280K probably benign Het
Card14 T C 11: 119,224,405 (GRCm39) S541P possibly damaging Het
Cd19 G T 7: 126,013,496 (GRCm39) Q98K possibly damaging Het
Ceacam5 T A 7: 17,493,341 (GRCm39) I788N possibly damaging Het
Cpne2 A T 8: 95,284,048 (GRCm39) I290L probably benign Het
Cpsf1 C T 15: 76,481,209 (GRCm39) V1216I probably benign Het
Csad G A 15: 102,097,357 (GRCm39) probably benign Het
Depdc7 T A 2: 104,560,853 (GRCm39) Q47L probably benign Het
Dnajc6 T A 4: 101,455,123 (GRCm39) S105T probably benign Het
Dsg4 C A 18: 20,604,047 (GRCm39) P838Q probably damaging Het
Efcab3 T A 11: 104,999,647 (GRCm39) Y179N possibly damaging Het
Egfr A T 11: 16,809,025 (GRCm39) N73I possibly damaging Het
Eya2 T C 2: 165,529,657 (GRCm39) probably null Het
Fubp1 A G 3: 151,923,652 (GRCm39) Q123R possibly damaging Het
Galns A G 8: 123,311,693 (GRCm39) I439T possibly damaging Het
Gm57858 A T 3: 36,079,506 (GRCm39) S261R possibly damaging Het
Gsdmd T G 15: 75,736,803 (GRCm39) L140R probably damaging Het
Hcrtr1 A G 4: 130,029,478 (GRCm39) V201A possibly damaging Het
Ildr2 T A 1: 166,135,361 (GRCm39) M371K probably benign Het
Kalrn G A 16: 34,134,582 (GRCm39) T412I possibly damaging Het
Kdm5b C T 1: 134,552,656 (GRCm39) Q1211* probably null Het
Loxhd1 T C 18: 77,517,671 (GRCm39) S1840P possibly damaging Het
Maml2 A G 9: 13,617,781 (GRCm39) M376V probably benign Het
Mgat4e T C 1: 134,469,745 (GRCm39) T100A probably damaging Het
Myo18b T A 5: 113,013,168 (GRCm39) T812S possibly damaging Het
Nanp T A 2: 150,881,158 (GRCm39) E30V probably null Het
Or2w1b G T 13: 21,300,217 (GRCm39) M118I probably damaging Het
Or4c107 T G 2: 88,788,849 (GRCm39) L13R probably damaging Het
Or5ac21 A T 16: 59,123,990 (GRCm39) H158L probably damaging Het
Parp3 T A 9: 106,351,393 (GRCm39) N241I probably benign Het
Piezo2 T C 18: 63,175,610 (GRCm39) N1924D probably benign Het
Pou1f1 A G 16: 65,326,811 (GRCm39) N137S probably damaging Het
Ptgdr A G 14: 45,096,094 (GRCm39) M206T probably damaging Het
Ptprd T C 4: 76,004,696 (GRCm39) T20A probably benign Het
Rexo1 G C 10: 80,385,497 (GRCm39) S520R probably benign Het
Sgip1 T A 4: 102,727,005 (GRCm39) S94T probably benign Het
Slc35e3 A G 10: 117,576,785 (GRCm39) V182A probably benign Het
Slfn2 A G 11: 82,961,089 (GRCm39) E356G probably damaging Het
Sync A T 4: 129,187,375 (GRCm39) M136L probably benign Het
Tm7sf2 A G 19: 6,120,638 (GRCm39) V425A probably benign Het
Trim21 T A 7: 102,208,742 (GRCm39) M326L probably benign Het
Trim62 A G 4: 128,790,677 (GRCm39) Q158R probably benign Het
Tubgcp2 T A 7: 139,580,964 (GRCm39) K663M probably damaging Het
Uggt1 T C 1: 36,202,316 (GRCm39) I1094V probably damaging Het
Urb1 A G 16: 90,594,798 (GRCm39) S245P probably damaging Het
Vwa3a A T 7: 120,351,838 (GRCm39) D34V probably null Het
Zbtb45 C T 7: 12,741,326 (GRCm39) A311T possibly damaging Het
Zfp655 T C 5: 145,173,999 (GRCm39) S135P unknown Het
Other mutations in Spry4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01781:Spry4 APN 18 38,723,478 (GRCm39) missense probably damaging 1.00
R0234:Spry4 UTSW 18 38,723,142 (GRCm39) missense possibly damaging 0.84
R0234:Spry4 UTSW 18 38,723,142 (GRCm39) missense possibly damaging 0.84
R1527:Spry4 UTSW 18 38,723,630 (GRCm39) missense probably benign 0.00
R1540:Spry4 UTSW 18 38,734,740 (GRCm39) unclassified probably benign
R1935:Spry4 UTSW 18 38,723,142 (GRCm39) missense possibly damaging 0.84
R1936:Spry4 UTSW 18 38,723,142 (GRCm39) missense possibly damaging 0.84
R4807:Spry4 UTSW 18 38,723,328 (GRCm39) frame shift probably null
R4865:Spry4 UTSW 18 38,722,876 (GRCm39) missense probably benign 0.09
R5343:Spry4 UTSW 18 38,723,028 (GRCm39) missense probably damaging 1.00
R9553:Spry4 UTSW 18 38,723,070 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCGGTTTCTTCCCAATCTAGG -3'
(R):5'- ATGCATGTGTCTGGTGCAAG -3'

Sequencing Primer
(F):5'- CCCAATCTAGGGTTTTAGGAGAG -3'
(R):5'- TGGTGCAAGGTATCTTCTATCAC -3'
Posted On 2019-10-24