Incidental Mutation 'R5343:Spry4'
ID 422464
Institutional Source Beutler Lab
Gene Symbol Spry4
Ensembl Gene ENSMUSG00000024427
Gene Name sprouty RTK signaling antagonist 4
Synonyms A030006O18Rik, sprouty4
MMRRC Submission 042922-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.499) question?
Stock # R5343 (G1)
Quality Score 190
Status Not validated
Chromosome 18
Chromosomal Location 38719300-38734400 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38723028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 245 (V245E)
Ref Sequence ENSEMBL: ENSMUSP00000025295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025295]
AlphaFold Q9WTP2
Predicted Effect probably damaging
Transcript: ENSMUST00000025295
AA Change: V245E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025295
Gene: ENSMUSG00000024427
AA Change: V245E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185182
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik C A 17: 47,083,962 (GRCm39) A75E probably damaging Het
Adck5 G A 15: 76,479,780 (GRCm39) R560H probably damaging Het
Ahctf1 A T 1: 179,598,199 (GRCm39) Y964* probably null Het
Alg8 T C 7: 97,036,126 (GRCm39) I339T possibly damaging Het
Alox5 T C 6: 116,390,468 (GRCm39) D503G possibly damaging Het
Camk4 A G 18: 33,211,122 (GRCm39) T76A probably damaging Het
Cdh3 T C 8: 107,279,568 (GRCm39) V728A probably benign Het
Chd4 T A 6: 125,097,326 (GRCm39) N1326K probably damaging Het
Cnn1 A T 9: 22,016,706 (GRCm39) Y48F probably benign Het
Dnah6 T A 6: 73,189,599 (GRCm39) E16D probably benign Het
Ezh2 A G 6: 47,553,549 (GRCm39) L56S probably damaging Het
F13b T C 1: 139,438,282 (GRCm39) V299A possibly damaging Het
Hydin T C 8: 111,212,051 (GRCm39) S1279P probably benign Het
Ift172 T C 5: 31,421,156 (GRCm39) M981V probably benign Het
Inava G T 1: 136,153,180 (GRCm39) H237Q probably benign Het
Lpl T A 8: 69,348,389 (GRCm39) V206E probably damaging Het
Mre11a A G 9: 14,723,130 (GRCm39) D368G probably damaging Het
Mreg G A 1: 72,200,117 (GRCm39) P191L probably damaging Het
Mtif2 G T 11: 29,486,964 (GRCm39) A134S probably damaging Het
Mxd4 T C 5: 34,335,074 (GRCm39) S114G probably benign Het
Myo1b T C 1: 51,817,696 (GRCm39) Q522R probably benign Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 26,999,349 (GRCm39) probably benign Het
Ninl T C 2: 150,813,110 (GRCm39) E182G probably benign Het
Notch3 T C 17: 32,362,257 (GRCm39) N1456S probably benign Het
Npr1 G T 3: 90,365,515 (GRCm39) N648K possibly damaging Het
Oas3 A G 5: 120,894,303 (GRCm39) S1016P possibly damaging Het
Or10a3 C T 7: 108,480,205 (GRCm39) V203M possibly damaging Het
Or9i14 T C 19: 13,792,324 (GRCm39) N210S probably damaging Het
Palld A G 8: 62,002,849 (GRCm39) probably benign Het
Patj T G 4: 98,564,430 (GRCm39) I1021S probably damaging Het
Pfpl T A 19: 12,406,052 (GRCm39) L101Q probably damaging Het
Pilrb2 T A 5: 137,869,228 (GRCm39) E124V possibly damaging Het
Pomk A G 8: 26,473,044 (GRCm39) F303S probably benign Het
Rap1gap2 A T 11: 74,332,611 (GRCm39) S65T probably damaging Het
Sema3a G A 5: 13,523,373 (GRCm39) C114Y probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Srrt T C 5: 137,295,427 (GRCm39) Y271C probably damaging Het
Tas2r136 A G 6: 132,755,043 (GRCm39) V28A probably benign Het
Tenm2 A G 11: 35,960,330 (GRCm39) V998A probably benign Het
Trim37 A G 11: 87,028,429 (GRCm39) E46G probably damaging Het
Ubiad1 A G 4: 148,520,892 (GRCm39) V244A possibly damaging 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
R7612:Spry4 UTSW 18 38,722,982 (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'- AGAAAGGCTTGTCAGACCTG -3'
(R):5'- AGTGCAAAGAGTGTGCGTCC -3'

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