Incidental Mutation 'R5246:Spry1'
ID 401140
Institutional Source Beutler Lab
Gene Symbol Spry1
Ensembl Gene ENSMUSG00000037211
Gene Name sprouty RTK signaling antagonist 1
Synonyms sprouty 1, sprouty1
MMRRC Submission 042817-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5246 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 37694096-37698747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37696916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
Ref Sequence ENSEMBL: ENSMUSP00000103744 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038569] [ENSMUST00000108107] [ENSMUST00000108109]
AlphaFold Q9QXV9
Predicted Effect probably damaging
Transcript: ENSMUST00000038569
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049292
Gene: ENSMUSG00000037211
AA Change: Y53C

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
low complexity region 106 125 N/A INTRINSIC
Pfam:Sprouty 180 304 1.3e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108107
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103742
Gene: ENSMUSG00000037211
AA Change: Y53C

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
low complexity region 106 125 N/A INTRINSIC
Pfam:Sprouty 180 292 6.5e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108109
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103744
Gene: ENSMUSG00000037211
AA Change: Y53C

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
low complexity region 106 125 N/A INTRINSIC
Pfam:Sprouty 180 292 6.5e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199414
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display postnatal lethality, premature death, abnormal kidney morphology and development with multiple ectopic ureteric buds, multiple ureters, and hydroureter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,509 (GRCm39) Y968F probably damaging Het
Bltp1 G A 3: 37,102,199 (GRCm39) R1299Q probably damaging Het
Brwd1 G A 16: 95,803,757 (GRCm39) P2138S probably damaging Het
Cdkl4 T A 17: 80,846,913 (GRCm39) probably null Het
Cep55 T A 19: 38,058,119 (GRCm39) D237E probably benign Het
Clhc1 T A 11: 29,525,434 (GRCm39) S503T probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Efcab5 T C 11: 77,079,671 (GRCm39) Y25C probably damaging Het
Eif3c G A 7: 126,156,410 (GRCm39) T444I possibly damaging Het
Epb41l4b G T 4: 57,040,989 (GRCm39) N491K probably damaging Het
Gm9776 A T 13: 94,495,065 (GRCm39) probably benign Het
Lrcol1 A C 5: 110,502,377 (GRCm39) E84D possibly damaging Het
Lrp1b A G 2: 41,360,952 (GRCm39) probably null Het
Mup5 T A 4: 61,752,874 (GRCm39) I50L probably benign Het
Myo16 A T 8: 10,612,212 (GRCm39) K1286* probably null Het
Pramel22 G T 4: 143,382,127 (GRCm39) P190T probably benign Het
Prss46 T A 9: 110,679,102 (GRCm39) V101D probably damaging Het
Rint1 T A 5: 24,005,809 (GRCm39) W164R probably damaging Het
Rnf139 G A 15: 58,771,552 (GRCm39) V526I probably damaging Het
Rptn A T 3: 93,304,140 (GRCm39) D491V probably damaging Het
Rptn A G 3: 93,305,036 (GRCm39) T790A possibly damaging Het
Scn8a T C 15: 100,908,938 (GRCm39) L802P probably damaging Het
Scrib T C 15: 75,936,646 (GRCm39) E435G probably benign Het
Sdk1 C A 5: 142,100,317 (GRCm39) T1449K possibly damaging Het
Septin7 T A 9: 25,210,832 (GRCm39) L289M probably damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Tmcc1 A G 6: 116,020,381 (GRCm39) V142A probably damaging Het
Vmn2r45 T G 7: 8,486,251 (GRCm39) T346P probably benign Het
Wdr25 A G 12: 108,993,382 (GRCm39) I533V probably benign Het
Zfp292 A C 4: 34,805,842 (GRCm39) Y2401D possibly damaging Het
Other mutations in Spry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4883:Spry1 UTSW 3 37,696,868 (GRCm39) missense possibly damaging 0.92
R6029:Spry1 UTSW 3 37,696,997 (GRCm39) missense possibly damaging 0.94
R6649:Spry1 UTSW 3 37,696,871 (GRCm39) missense probably damaging 0.99
R6653:Spry1 UTSW 3 37,696,871 (GRCm39) missense probably damaging 0.99
R6914:Spry1 UTSW 3 37,697,193 (GRCm39) missense probably benign 0.00
R6942:Spry1 UTSW 3 37,697,193 (GRCm39) missense probably benign 0.00
RF008:Spry1 UTSW 3 37,697,264 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GATCACTCCACATGGATTCCCC -3'
(R):5'- AATAGGCCCTGCTCAGAAGAC -3'

Sequencing Primer
(F):5'- TGGATTCCCCAAGTCAGCATG -3'
(R):5'- GAAGACACACTGCTGCTGCTC -3'
Posted On 2016-07-06