Incidental Mutation 'R4275:Rspry1'
ID 324758
Institutional Source Beutler Lab
Gene Symbol Rspry1
Ensembl Gene ENSMUSG00000050079
Gene Name ring finger and SPRY domain containing 1
Synonyms 4930470D19Rik
MMRRC Submission 041646-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.361) question?
Stock # R4275 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95328569-95386905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95376389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 304 (V304L)
Ref Sequence ENSEMBL: ENSMUSP00000148724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060389] [ENSMUST00000211983] [ENSMUST00000212729]
AlphaFold Q8BVR6
Predicted Effect probably benign
Transcript: ENSMUST00000060389
AA Change: V428L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000057275
Gene: ENSMUSG00000050079
AA Change: V428L

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 30 39 N/A INTRINSIC
low complexity region 74 95 N/A INTRINSIC
SPRY 358 482 2.94e-26 SMART
RING 527 561 3.93e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211941
Predicted Effect probably benign
Transcript: ENSMUST00000211983
AA Change: V428L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000212729
AA Change: V304L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.1020 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1e T C 1: 154,369,071 (GRCm39) Y322C probably damaging Het
Camsap2 A G 1: 136,198,614 (GRCm39) V1462A probably benign Het
D3Ertd751e C A 3: 41,710,589 (GRCm39) probably benign Het
Dhcr7 C T 7: 143,396,964 (GRCm39) A152V probably damaging Het
Enpep A T 3: 129,125,927 (GRCm39) N68K probably benign Het
Fam131b G A 6: 42,298,241 (GRCm39) L43F probably damaging Het
Fbxl5 T A 5: 43,920,114 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Hycc2 T C 1: 58,569,092 (GRCm39) T440A probably benign Het
Igf2 T C 7: 142,209,523 (GRCm39) M46V probably benign Het
Kntc1 T A 5: 123,905,842 (GRCm39) Y367N probably damaging Het
Mapk8ip2 T C 15: 89,343,198 (GRCm39) W647R probably damaging Het
Mettl21c C T 1: 44,049,716 (GRCm39) V110I probably damaging Het
Mrgprh T C 17: 13,096,114 (GRCm39) L118P probably damaging Het
Myadm A G 7: 3,345,618 (GRCm39) T127A probably benign Het
Myh10 A T 11: 68,642,766 (GRCm39) probably null Het
Nadk T A 4: 155,668,712 (GRCm39) Y128N probably benign Het
Or5g27 T C 2: 85,410,207 (GRCm39) V208A probably benign Het
Or8k39 T C 2: 86,563,936 (GRCm39) T7A probably damaging Het
Papolg A G 11: 23,818,378 (GRCm39) I500T probably benign Het
Pkhd1 A T 1: 20,128,608 (GRCm39) C4032S probably benign Het
Rnase1 A T 14: 51,383,327 (GRCm39) L9Q probably damaging Het
Sall2 C A 14: 52,551,260 (GRCm39) R643L probably damaging Het
Scpep1 T C 11: 88,837,968 (GRCm39) probably null Het
Serpina3m T A 12: 104,355,375 (GRCm39) I14N probably damaging Het
Smg6 A C 11: 74,884,700 (GRCm39) probably benign Het
Suz12 T C 11: 79,920,879 (GRCm39) M593T probably damaging Het
Tmem139 A G 6: 42,241,039 (GRCm39) E208G probably damaging Het
Tnxb A G 17: 34,917,205 (GRCm39) Y2200C probably damaging Het
Usp19 T G 9: 108,375,893 (GRCm39) V911G probably damaging Het
Vipr1 T C 9: 121,493,684 (GRCm39) L245P probably damaging Het
Vmn2r105 T A 17: 20,448,902 (GRCm39) I92F probably damaging Het
Zbtb47 T A 9: 121,595,605 (GRCm39) V576D probably damaging Het
Zfp518b A G 5: 38,829,071 (GRCm39) V978A probably damaging Het
Other mutations in Rspry1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rspry1 APN 8 95,349,608 (GRCm39) intron probably benign
IGL00158:Rspry1 APN 8 95,349,614 (GRCm39) start codon destroyed probably null 0.89
IGL01141:Rspry1 APN 8 95,376,483 (GRCm39) missense probably benign 0.00
IGL01860:Rspry1 APN 8 95,376,444 (GRCm39) missense probably benign 0.00
IGL02174:Rspry1 APN 8 95,359,768 (GRCm39) missense possibly damaging 0.84
IGL02819:Rspry1 APN 8 95,380,884 (GRCm39) missense probably benign 0.42
IGL02926:Rspry1 APN 8 95,376,439 (GRCm39) missense probably damaging 1.00
IGL03366:Rspry1 APN 8 95,376,962 (GRCm39) missense probably benign 0.00
R0570:Rspry1 UTSW 8 95,356,420 (GRCm39) missense probably damaging 1.00
R1833:Rspry1 UTSW 8 95,362,116 (GRCm39) missense probably damaging 1.00
R1988:Rspry1 UTSW 8 95,358,682 (GRCm39) critical splice acceptor site probably null
R2444:Rspry1 UTSW 8 95,349,735 (GRCm39) missense probably damaging 1.00
R3623:Rspry1 UTSW 8 95,376,405 (GRCm39) missense probably damaging 1.00
R3624:Rspry1 UTSW 8 95,376,405 (GRCm39) missense probably damaging 1.00
R4888:Rspry1 UTSW 8 95,385,417 (GRCm39) missense probably benign 0.19
R5026:Rspry1 UTSW 8 95,376,931 (GRCm39) missense probably damaging 1.00
R5310:Rspry1 UTSW 8 95,349,813 (GRCm39) missense probably benign
R5374:Rspry1 UTSW 8 95,380,892 (GRCm39) missense probably benign 0.38
R5374:Rspry1 UTSW 8 95,349,636 (GRCm39) missense probably benign 0.00
R5387:Rspry1 UTSW 8 95,364,914 (GRCm39) missense possibly damaging 0.95
R5517:Rspry1 UTSW 8 95,363,388 (GRCm39) splice site probably null
R5631:Rspry1 UTSW 8 95,355,706 (GRCm39) start codon destroyed possibly damaging 0.79
R5653:Rspry1 UTSW 8 95,363,239 (GRCm39) splice site probably null
R6065:Rspry1 UTSW 8 95,349,615 (GRCm39) start codon destroyed probably null 0.98
R6220:Rspry1 UTSW 8 95,385,378 (GRCm39) missense probably damaging 1.00
R6276:Rspry1 UTSW 8 95,349,886 (GRCm39) missense probably damaging 1.00
R6821:Rspry1 UTSW 8 95,362,059 (GRCm39) nonsense probably null
R7390:Rspry1 UTSW 8 95,349,813 (GRCm39) missense probably benign
R7460:Rspry1 UTSW 8 95,376,963 (GRCm39) missense probably benign 0.00
R7644:Rspry1 UTSW 8 95,385,396 (GRCm39) missense probably benign 0.00
R7717:Rspry1 UTSW 8 95,349,750 (GRCm39) missense probably damaging 1.00
R7768:Rspry1 UTSW 8 95,356,469 (GRCm39) missense probably damaging 1.00
R7940:Rspry1 UTSW 8 95,349,635 (GRCm39) missense probably benign 0.22
R7978:Rspry1 UTSW 8 95,349,753 (GRCm39) missense probably damaging 0.98
R8087:Rspry1 UTSW 8 95,380,925 (GRCm39) missense probably benign 0.04
R8174:Rspry1 UTSW 8 95,376,450 (GRCm39) missense probably damaging 0.97
R8326:Rspry1 UTSW 8 95,366,217 (GRCm39) missense probably damaging 1.00
R8676:Rspry1 UTSW 8 95,358,747 (GRCm39) missense probably benign 0.01
R8715:Rspry1 UTSW 8 95,349,888 (GRCm39) missense probably damaging 0.98
R8869:Rspry1 UTSW 8 95,359,780 (GRCm39) missense probably damaging 0.97
R9253:Rspry1 UTSW 8 95,349,621 (GRCm39) missense probably damaging 1.00
R9281:Rspry1 UTSW 8 95,363,259 (GRCm39) missense probably damaging 1.00
R9699:Rspry1 UTSW 8 95,380,857 (GRCm39) missense probably benign 0.01
X0010:Rspry1 UTSW 8 95,356,429 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- TGCCGAGAAGCAAATCAGC -3'
(R):5'- TGAGGTCAGATCAAATGGAGCTCTAG -3'

Sequencing Primer
(F):5'- GGCTTGTCATAGTTTAAATGGAAGC -3'
(R):5'- AGATCAAATGGAGCTCTAGTTAATTG -3'
Posted On 2015-06-24