Incidental Mutation 'R5484:Sh3gl2'
ID430294
Institutional Source Beutler Lab
Gene Symbol Sh3gl2
Ensembl Gene ENSMUSG00000028488
Gene NameSH3-domain GRB2-like 2
SynonymsB930049H17Rik, endophilin A1, 9530001L19Rik, endophilin I, Sh3d2a, EEN-B1
MMRRC Submission 043045-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5484 (G1)
Quality Score206
Status Validated
Chromosome4
Chromosomal Location85205126-85639195 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 85398923 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107188] [ENSMUST00000107189]
Predicted Effect unknown
Transcript: ENSMUST00000107188
AA Change: M410T
SMART Domains Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: M410T

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 351 4.78e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107189
SMART Domains Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
Meta Mutation Damage Score 0.072 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency 97% (76/78)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,471,931 H609R probably benign Het
Abca6 A T 11: 110,184,073 V1388E probably damaging Het
Alx1 T A 10: 103,025,316 D117V probably damaging Het
Ascl4 T C 10: 85,928,537 L16P probably damaging Het
Atp4a G A 7: 30,720,672 probably benign Het
Btnl10 G A 11: 58,923,825 V444M probably damaging Het
Camkv A T 9: 107,946,146 N124Y probably damaging Het
Catsperb T C 12: 101,575,916 L625P probably benign Het
Ccdc171 A G 4: 83,693,962 I973V probably benign Het
Celsr1 T C 15: 85,931,282 D1844G probably benign Het
Chd7 G C 4: 8,828,258 K1066N probably damaging Het
Cmklr1 C G 5: 113,614,929 D4H possibly damaging Het
Corin T C 5: 72,358,484 D409G probably benign Het
Cry1 T C 10: 85,146,724 probably null Het
Cttnbp2 T A 6: 18,427,690 probably benign Het
Dmxl1 T A 18: 49,889,464 V1623E probably damaging Het
Dnah6 G T 6: 73,092,116 D2477E possibly damaging Het
Dnajb12 GC G 10: 59,892,752 probably null Het
Dopey1 C G 9: 86,545,288 R2164G probably damaging Het
Dsp A G 13: 38,184,038 T678A possibly damaging Het
Fam129a A G 1: 151,718,086 T841A probably benign Het
Fam49b T A 15: 63,943,207 T139S probably damaging Het
Farsb A C 1: 78,476,196 I51S probably damaging Het
Gm10220 T A 5: 26,117,932 I161L possibly damaging Het
Gm10782 G T 13: 56,363,174 noncoding transcript Het
Gm12830 A T 4: 114,845,051 T137S unknown Het
Gopc A G 10: 52,358,846 L67P probably damaging Het
Hmcn1 T C 1: 150,675,540 I2655V probably benign Het
Hmcn2 C T 2: 31,393,054 Q1981* probably null Het
Ifi209 T A 1: 173,641,074 S157T probably benign Het
Iqcf1 A T 9: 106,501,908 I74F probably damaging Het
Irf3 A T 7: 44,999,958 R78W probably damaging Het
Kank4 T C 4: 98,774,785 D722G probably benign Het
Loxl1 A G 9: 58,290,782 V597A possibly damaging Het
Marveld1 T C 19: 42,147,833 L62P probably damaging Het
Mga T G 2: 119,916,626 D419E possibly damaging Het
Mroh2a A G 1: 88,258,664 S64G probably benign Het
Mroh2b A G 15: 4,908,981 K251E possibly damaging Het
Myh4 A G 11: 67,251,818 E935G probably damaging Het
Nat8f2 C A 6: 85,868,012 A123S possibly damaging Het
Olfr1423 G A 19: 12,035,828 L305F probably benign Het
Pcdha9 T A 18: 36,998,103 V75E probably damaging Het
Pebp4 A T 14: 69,963,542 probably null Het
Pitx1 A G 13: 55,826,353 S222P probably benign Het
Plekhg3 G A 12: 76,578,400 V1339M possibly damaging Het
Plekhs1 C T 19: 56,479,828 S276L possibly damaging Het
Plin4 T C 17: 56,104,932 T700A possibly damaging Het
Plxnb2 T C 15: 89,164,209 probably null Het
Pms2 T C 5: 143,928,125 I675T probably damaging Het
Polrmt A G 10: 79,742,054 L268P probably damaging Het
Rtp1 A G 16: 23,429,275 T33A probably benign Het
Safb2 T C 17: 56,575,346 probably benign Het
Sdk1 C A 5: 142,100,186 P1383Q probably damaging Het
Setdb1 A T 3: 95,337,258 C758S probably damaging Het
Slc13a2 G A 11: 78,404,822 probably benign Het
Slc35b1 T C 11: 95,387,805 Y126H probably damaging Het
Strip2 C A 6: 29,917,155 probably benign Het
Tbx4 A G 11: 85,914,404 T440A probably damaging Het
Tcf7l2 C A 19: 55,919,508 probably null Het
Tgfb1 A C 7: 25,688,149 D94A probably benign Het
Tmem132b T C 5: 125,787,733 C968R probably damaging Het
Tmem176b T A 6: 48,834,533 M61L probably benign Het
Tmem258 A G 19: 10,207,325 probably null Het
Tpr T C 1: 150,426,888 L1379S probably benign Het
Ttc26 T G 6: 38,389,122 C124W probably benign Het
Vmn2r44 T C 7: 8,380,124 D157G possibly damaging Het
Wfdc8 T C 2: 164,597,729 I244M probably benign Het
Zfp341 T C 2: 154,625,001 S97P probably benign Het
Zfp655 T C 5: 145,243,635 V101A probably benign Het
Zfp788 T C 7: 41,649,853 S586P probably damaging Het
Zfp874b C T 13: 67,481,254 V52I possibly damaging Het
Other mutations in Sh3gl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Sh3gl2 APN 4 85347196 splice site probably benign
PIT4362001:Sh3gl2 UTSW 4 85377549 missense probably benign 0.00
R0699:Sh3gl2 UTSW 4 85347171 missense probably benign 0.00
R0960:Sh3gl2 UTSW 4 85377480 missense probably damaging 1.00
R1562:Sh3gl2 UTSW 4 85385893 missense probably benign 0.00
R3877:Sh3gl2 UTSW 4 85379381 missense possibly damaging 0.92
R4466:Sh3gl2 UTSW 4 85381451 missense possibly damaging 0.62
R4630:Sh3gl2 UTSW 4 85379409 missense probably damaging 1.00
R4811:Sh3gl2 UTSW 4 85398166 intron probably benign
R4888:Sh3gl2 UTSW 4 85379257 missense probably benign 0.17
R5018:Sh3gl2 UTSW 4 85391054 unclassified probably benign
R5121:Sh3gl2 UTSW 4 85379257 missense probably benign 0.17
R5285:Sh3gl2 UTSW 4 85376449 missense probably benign 0.03
R5611:Sh3gl2 UTSW 4 85355331 missense probably benign 0.39
R6029:Sh3gl2 UTSW 4 85381414 missense probably damaging 0.97
R7048:Sh3gl2 UTSW 4 85377565 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTGCTTGACAATCCATTCAC -3'
(R):5'- GGCTCACCTATGCAGAAAGC -3'

Sequencing Primer
(F):5'- GAGATCTAGCTTCCTAGTCTCCAGAG -3'
(R):5'- CACATAGATCAGATGATGGGGCC -3'
Posted On2016-10-05