Incidental Mutation 'R6766:Syngr2'
ID531941
Institutional Source Beutler Lab
Gene Symbol Syngr2
Ensembl Gene ENSMUSG00000048277
Gene Namesynaptogyrin 2
SynonymsClast2, cellugyrin
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #R6766 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location117809668-117814283 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117813435 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000113941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026649] [ENSMUST00000026661] [ENSMUST00000120928] [ENSMUST00000132298] [ENSMUST00000143852] [ENSMUST00000177131] [ENSMUST00000177241]
Predicted Effect probably benign
Transcript: ENSMUST00000026649
AA Change: V212A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277
AA Change: V212A

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 20 165 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026661
SMART Domains Protein: ENSMUSP00000026661
Gene: ENSMUSG00000025574

DomainStartEndE-ValueType
Pfam:TK 19 189 9.8e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120928
AA Change: V182A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277
AA Change: V182A

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 21 135 1.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132298
SMART Domains Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143852
SMART Domains Protein: ENSMUSP00000135529
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
Pfam:MARVEL 14 118 8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175737
SMART Domains Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
Pfam:MARVEL 18 121 1.4e-13 PFAM
Predicted Effect silent
Transcript: ENSMUST00000177131
SMART Domains Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 20 162 3.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177241
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 G A 8: 24,872,630 S17L probably damaging Het
Akt3 A T 1: 177,050,190 Y337* probably null Het
Ankrd34c A G 9: 89,729,328 V320A probably benign Het
Aox2 C A 1: 58,349,068 L1112I possibly damaging Het
Arap2 A C 5: 62,677,100 probably null Het
Atm A T 9: 53,490,282 I1429N probably damaging Het
Ccdc68 A G 18: 69,966,790 N290D probably damaging Het
Chst1 T C 2: 92,613,197 W5R probably damaging Het
Clip1 G T 5: 123,614,764 probably benign Het
Crebbp T C 16: 4,117,500 T842A probably damaging Het
Cyp2b13 T C 7: 26,081,811 probably null Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Dock1 T A 7: 134,756,793 probably null Het
Dst A G 1: 34,294,483 I4800V probably damaging Het
Efcab7 CAAGTAAAGTAA CAAGTAA 4: 99,877,959 probably null Het
Epb41l2 C T 10: 25,473,092 Q382* probably null Het
Fam83e A G 7: 45,726,646 D261G probably damaging Het
Ifnk T G 4: 35,152,134 S21A possibly damaging Het
Ift122 A G 6: 115,926,243 H1157R probably benign Het
Ighv1-67 T C 12: 115,604,034 K67R possibly damaging Het
Inpp4a C A 1: 37,372,341 A97D probably damaging Het
Insm1 T A 2: 146,223,426 Y387* probably null Het
Irgm1 T C 11: 48,866,101 I294M possibly damaging Het
Isoc2b C T 7: 4,851,062 V104M probably damaging Het
Kif2c A C 4: 117,167,083 S311R probably benign Het
Morn3 G A 5: 123,041,207 A60V probably damaging Het
Oit3 T C 10: 59,438,712 N89D probably damaging Het
Olfr1174-ps T A 2: 88,311,751 Q15L noncoding transcript Het
Olfr1221 G T 2: 89,112,296 T72N possibly damaging Het
Olfr1262 T C 2: 90,002,532 V42A probably benign Het
Olfr293 A T 7: 86,664,085 N141I probably damaging Het
Olfr912 A C 9: 38,581,773 R165S probably damaging Het
Pan2 C A 10: 128,314,512 N708K possibly damaging Het
Parp1 T A 1: 180,598,362 V886E probably damaging Het
Pcdha8 C A 18: 36,994,700 A745E probably benign Het
Pcyox1 C T 6: 86,394,408 probably null Het
Prl2c2 A T 13: 13,002,128 probably null Het
Samd1 T C 8: 83,999,732 S473P possibly damaging Het
Slc26a1 A T 5: 108,671,907 D475E probably damaging Het
Slco1c1 T C 6: 141,547,809 V239A possibly damaging Het
Smo T A 6: 29,736,045 L12Q unknown Homo
Srpk1 C T 17: 28,602,753 R229Q possibly damaging Het
Syn2 T A 6: 115,239,401 F191L probably damaging Het
Tarbp1 G A 8: 126,447,400 A889V probably benign Het
Tbc1d2b T C 9: 90,226,209 T430A probably benign Het
Tmem217 T A 17: 29,526,510 Y82F probably damaging Het
Ttll9 T A 2: 152,999,300 Y272* probably null Het
Uts2r A G 11: 121,161,207 Y299C probably damaging Het
Vsig8 T A 1: 172,560,576 M37K probably benign Het
Vwf G T 6: 125,639,376 D1218Y unknown Het
Wdr11 T G 7: 129,624,312 M727R probably benign Het
Wwc2 A G 8: 47,900,791 Y103H possibly damaging Het
Yod1 T A 1: 130,719,271 L295* probably null Het
Zfp113 G T 5: 138,145,346 S214* probably null Het
Zfp438 T A 18: 5,213,780 M393L probably benign Het
Zfp946 G A 17: 22,455,771 C502Y probably benign Het
Other mutations in Syngr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1872:Syngr2 UTSW 11 117812538 missense probably damaging 0.97
R1888:Syngr2 UTSW 11 117813398 missense possibly damaging 0.95
R1888:Syngr2 UTSW 11 117813398 missense possibly damaging 0.95
R2035:Syngr2 UTSW 11 117813360 missense probably benign 0.03
R2176:Syngr2 UTSW 11 117812580 missense probably damaging 1.00
R3933:Syngr2 UTSW 11 117813417 missense probably damaging 0.96
R4584:Syngr2 UTSW 11 117813121 missense probably damaging 1.00
R4968:Syngr2 UTSW 11 117813470 missense probably damaging 1.00
R5023:Syngr2 UTSW 11 117812510 missense probably benign 0.38
R6891:Syngr2 UTSW 11 117812673 missense probably damaging 1.00
R7340:Syngr2 UTSW 11 117812496 missense probably damaging 1.00
R7804:Syngr2 UTSW 11 117812575 missense possibly damaging 0.80
R7833:Syngr2 UTSW 11 117813156 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACCTCAAGATGTCCGGGTG -3'
(R):5'- GAAAGGCGTGGACTCTTTGG -3'

Sequencing Primer
(F):5'- GGCAGCCATCACCTTCAG -3'
(R):5'- GACTCTTTGGCTGTCAACTGTAACAG -3'
Posted On2018-08-29