Incidental Mutation 'R5121:Sh3gl2'
ID392994
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 042709-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5121 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location85205126-85639195 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 85379257 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 157 (H157Q)
Ref Sequence ENSEMBL: ENSMUSP00000102806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030212] [ENSMUST00000107184] [ENSMUST00000107188] [ENSMUST00000107189]
Predicted Effect probably benign
Transcript: ENSMUST00000030212
AA Change: H157Q

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488
AA Change: H157Q

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 348 3.19e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107184
SMART Domains Protein: ENSMUSP00000102802
Gene: ENSMUSG00000028488

DomainStartEndE-ValueType
BAR 5 177 1.24e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107188
AA Change: H157Q

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: H157Q

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 351 4.78e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107189
AA Change: H157Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488
AA Change: H157Q

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133109
AA Change: H94Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488
AA Change: H94Q

DomainStartEndE-ValueType
BAR 1 180 3.83e-37 SMART
Meta Mutation Damage Score 0.184 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A G 2: 58,281,650 I234T probably damaging Het
Adam24 A G 8: 40,679,511 E6G probably damaging Het
Amz1 A G 5: 140,744,164 D151G probably benign Het
Arhgap24 T C 5: 102,841,335 L10P probably damaging Het
Arhgap25 T G 6: 87,532,864 N8T probably benign Het
Arsi T G 18: 60,917,439 F465V probably damaging Het
Atp2c1 A G 9: 105,448,825 V293A probably damaging Het
Bzw2 A G 12: 36,104,351 L340P probably damaging Het
Camkmt C T 17: 85,096,581 T77I probably benign Het
Camsap1 G T 2: 25,935,550 Q1375K probably benign Het
Catsper2 G T 2: 121,397,123 probably null Het
Cd163 T C 6: 124,317,989 C671R probably damaging Het
Cdk7 T C 13: 100,717,684 probably null Het
Cfi C T 3: 129,873,077 P483L probably damaging Het
Chn2 C T 6: 54,218,561 L72F possibly damaging Het
Cntn2 C A 1: 132,517,060 E363* probably null Het
Crebbp T C 16: 4,093,511 E999G probably damaging Het
Cspp1 T A 1: 10,126,463 N900K probably damaging Het
Cts3 A C 13: 61,567,595 I141M probably benign Het
Cwc27 A T 13: 104,804,353 V166D probably damaging Het
Defb26 T C 2: 152,508,165 E65G possibly damaging Het
Dnah8 A G 17: 30,810,353 T4099A probably benign Het
Eml6 A G 11: 29,744,606 F1953L probably benign Het
Etl4 T A 2: 20,340,111 probably null Het
Fbln1 A G 15: 85,237,671 E331G probably damaging Het
Gabra4 G A 5: 71,572,203 H76Y probably benign Het
Gcat T C 15: 79,035,282 V149A probably damaging Het
Glp2r A T 11: 67,722,100 probably null Het
Gm572 T C 4: 148,666,845 probably null Het
Golgb1 T C 16: 36,919,258 V2653A probably damaging Het
Grap2 G A 15: 80,646,144 R155Q possibly damaging Het
Gspt1 T A 16: 11,223,301 I533L probably damaging Het
Gypa A T 8: 80,496,348 Y27F unknown Het
Hipk4 G A 7: 27,529,492 V456I probably benign Het
Homer2 A T 7: 81,649,563 D51E probably benign Het
Hspa1b A T 17: 34,958,004 V335E possibly damaging Het
Ift122 A G 6: 115,912,534 T827A probably benign Het
Igkv1-35 T C 6: 70,011,135 N58S probably benign Het
Kat6b A T 14: 21,619,258 H297L probably damaging Het
Kirrel3 G T 9: 35,013,305 G296W probably damaging Het
Klhl17 A G 4: 156,230,625 V525A probably benign Het
Lrrn1 G T 6: 107,569,207 R655S possibly damaging Het
Ltk T C 2: 119,753,227 N256D probably damaging Het
Mill2 G A 7: 18,856,666 G209S probably benign Het
Mmp27 A T 9: 7,581,368 H544L probably benign Het
Mphosph10 A G 7: 64,389,596 S209P probably damaging Het
Mphosph8 A T 14: 56,676,546 K415* probably null Het
Myb T A 10: 21,126,238 M616L probably benign Het
Myo15b C T 11: 115,886,054 R867W probably damaging Het
Myo18b A T 5: 112,874,480 probably benign Het
Nip7 A G 8: 107,056,957 E8G possibly damaging Het
Olfr1318 A T 2: 112,156,286 M112L possibly damaging Het
Olfr368 T G 2: 37,332,589 F281V probably damaging Het
Olfr38 T A 6: 42,762,997 L315* probably null Het
Olfr677 A G 7: 105,056,482 T79A possibly damaging Het
Olfr711 T C 7: 106,972,231 I38V probably benign Het
Optn T A 2: 5,046,106 I155F probably benign Het
Papolb A T 5: 142,528,837 H350Q probably benign Het
Pappa2 T A 1: 158,838,627 M1128L probably benign Het
Pcdhb5 T A 18: 37,321,117 N183K probably benign Het
Pde12 G T 14: 26,669,422 S44* probably null Het
Peg3 T C 7: 6,710,289 K645E probably benign Het
Pkd1 C T 17: 24,573,463 R1375C probably benign Het
Plekha5 G A 6: 140,579,474 E21K probably damaging Het
Plk2 C T 13: 110,399,424 P554L probably benign Het
Pnkp C T 7: 44,862,403 S113L probably damaging Het
Polg A T 7: 79,464,605 W203R probably damaging Het
Ppcdc A G 9: 57,421,163 V65A possibly damaging Het
Ppm1m T A 9: 106,195,805 Q353L probably benign Het
Ppp1r13l G C 7: 19,370,095 R167P probably damaging Het
Ppp1r9b T A 11: 94,996,653 V497E probably damaging Het
Prpf6 T A 2: 181,636,043 H399Q probably benign Het
Psg25 T A 7: 18,526,536 I146F possibly damaging Het
Rasgef1c A T 11: 49,960,429 Q116L probably damaging Het
Rbbp9 A G 2: 144,550,756 V8A possibly damaging Het
Rfk T C 19: 17,399,566 F144S probably damaging Het
Rfwd3 A C 8: 111,282,753 probably null Het
Rhpn1 T C 15: 75,709,260 I117T probably damaging Het
Sars2 A T 7: 28,747,908 N244Y probably damaging Het
Scnn1b A T 7: 121,902,887 H256L probably benign Het
Sgcz G A 8: 37,539,667 T195I probably damaging Het
Spen T A 4: 141,476,099 Q1739L probably benign Het
Susd1 G T 4: 59,379,657 S323R possibly damaging Het
Szt2 T C 4: 118,385,444 E1482G possibly damaging Het
Tex15 A T 8: 33,571,766 K408I probably damaging Het
Tex33 C T 15: 78,386,173 E132K probably benign Het
Trem1 T A 17: 48,232,836 F14L probably null Het
Trim26 G T 17: 36,851,066 E126* probably null Het
Trpv3 T C 11: 73,277,834 probably null Het
Ttn T A 2: 76,916,491 probably null Het
Ubap1 C T 4: 41,379,688 L301F probably benign Het
Uchl1 T C 5: 66,676,437 M12T probably benign Het
Vill C T 9: 119,070,025 T253I possibly damaging Het
Vmn2r107 C T 17: 20,355,753 T115I probably benign Het
Vmn2r98 T C 17: 19,053,553 S21P probably benign Het
Wapl A G 14: 34,677,162 K63E probably benign Het
Wnt2 T C 6: 18,023,126 K175E possibly damaging Het
Zfp592 T C 7: 81,023,561 L91P probably damaging Het
Zfp74 T C 7: 29,932,507 probably null Het
Zglp1 A T 9: 21,062,661 I243N probably benign Het
Zranb1 A G 7: 132,950,187 E215G probably benign 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
R5285:Sh3gl2 UTSW 4 85376449 missense probably benign 0.03
R5484:Sh3gl2 UTSW 4 85398923 intron probably benign
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'- ACAGTTAGCCACTAGAAGCATTTGC -3'
(R):5'- TCAGTGCTATGCCTCGATGG -3'

Sequencing Primer
(F):5'- CATTTGCGTTGCTGGTACATG -3'
(R):5'- CTATGCCTCGATGGTAAAATTAAATG -3'
Posted On2016-06-15