Incidental Mutation 'R9118:Synpr'
ID 692653
Institutional Source Beutler Lab
Gene Symbol Synpr
Ensembl Gene ENSMUSG00000056296
Gene Name synaptoporin
Synonyms 1500003F20Rik
MMRRC Submission 068921-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R9118 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 8854294-9184983 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13608673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 171 (V171A)
Ref Sequence ENSEMBL: ENSMUSP00000064986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070323] [ENSMUST00000112656] [ENSMUST00000223583]
AlphaFold Q8BGN8
Predicted Effect probably damaging
Transcript: ENSMUST00000070323
AA Change: V171A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064986
Gene: ENSMUSG00000056296
AA Change: V171A

DomainStartEndE-ValueType
Pfam:MARVEL 15 216 8.6e-46 PFAM
low complexity region 251 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112656
AA Change: V151A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108275
Gene: ENSMUSG00000056296
AA Change: V151A

DomainStartEndE-ValueType
Pfam:MARVEL 2 196 5.3e-40 PFAM
low complexity region 231 239 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223583
AA Change: V211A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (31/32)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A T 9: 118,985,957 (GRCm39) S36T probably benign Het
Aifm2 C T 10: 61,561,681 (GRCm39) T9I probably benign Het
Ano5 T A 7: 51,220,122 (GRCm39) F421I probably damaging Het
Cacna1a G A 8: 85,262,715 (GRCm39) V372M probably damaging Het
Col6a5 A T 9: 105,755,853 (GRCm39) probably benign Het
Colgalt2 A G 1: 152,378,906 (GRCm39) probably benign Het
Crybg1 T C 10: 43,879,925 (GRCm39) D421G possibly damaging Het
Dgat1 A T 15: 76,386,718 (GRCm39) W440R probably damaging Het
Dnah5 TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC TGTC 15: 28,401,994 (GRCm39) probably null Het
Dnai7 A G 6: 145,120,900 (GRCm39) Y691H probably damaging Het
Dnai7 A G 6: 145,120,971 (GRCm39) L667P probably damaging Het
Eif4h C A 5: 134,656,481 (GRCm39) V70L probably benign Het
Gabrd C A 4: 155,470,475 (GRCm39) V326L possibly damaging Het
Krt1c C T 15: 101,722,976 (GRCm39) E341K probably damaging Het
Lrp4 C T 2: 91,308,927 (GRCm39) A538V possibly damaging Het
Mfap3l G A 8: 61,109,716 (GRCm39) V31M probably damaging Het
Mroh2b T C 15: 4,991,573 (GRCm39) I1557T possibly damaging Het
Or2y16 A T 11: 49,335,409 (GRCm39) I244F probably benign Het
Or5an11 T C 19: 12,246,263 (GRCm39) V223A probably benign Het
Pcyt2 G A 11: 120,503,899 (GRCm39) P183L Het
Rapsn A G 2: 90,875,378 (GRCm39) H387R probably damaging Het
Scaf11 G A 15: 96,319,886 (GRCm39) A259V probably benign Het
Septin9 A G 11: 117,157,398 (GRCm39) D11G probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc7a2 T A 8: 41,351,994 (GRCm39) I19N possibly damaging Het
Tmed7 T C 18: 46,726,338 (GRCm39) N139S probably benign Het
Tnks1bp1 G T 2: 84,893,720 (GRCm39) G1216W probably damaging Het
Ush2a T A 1: 188,386,839 (GRCm39) V2338E probably damaging Het
Vmn1r152 A T 7: 22,222,992 (GRCm39) I201F Het
Vmn2r106 C A 17: 20,505,667 (GRCm39) W9L probably benign Het
Vmn2r9 A G 5: 108,990,937 (GRCm39) V808A probably damaging Het
Zfp646 A G 7: 127,480,810 (GRCm39) T996A Het
Zng1 T C 19: 24,920,048 (GRCm39) R190G probably damaging Het
Other mutations in Synpr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Synpr APN 14 13,608,576 (GRCm38) missense possibly damaging 0.86
IGL02715:Synpr APN 14 13,608,618 (GRCm38) missense probably damaging 1.00
R0040:Synpr UTSW 14 13,563,024 (GRCm38) missense probably damaging 1.00
R1806:Synpr UTSW 14 13,563,082 (GRCm38) missense probably damaging 1.00
R3157:Synpr UTSW 14 13,493,614 (GRCm38) missense possibly damaging 0.76
R4715:Synpr UTSW 14 13,285,198 (GRCm38) frame shift probably null
R5906:Synpr UTSW 14 13,608,788 (GRCm38) intron probably benign
R7070:Synpr UTSW 14 13,493,628 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGGTTGCCTAAGTTAGCAG -3'
(R):5'- TGACAATGAAAGTCTCAAGGGC -3'

Sequencing Primer
(F):5'- TGCCTAAGTTAGCAGATTTGTTTC -3'
(R):5'- TGGCCTAGTTTTGGAGGAAGAAATG -3'
Posted On 2021-12-30