Incidental Mutation 'R5285:Sh3gl2'
ID 402972
Institutional Source Beutler Lab
Gene Symbol Sh3gl2
Ensembl Gene ENSMUSG00000028488
Gene Name SH3-domain GRB2-like 2
Synonyms Sh3d2a, EEN1, 9530001L19Rik, endophilin I, EEN-B1, B930049H17Rik, endophilin A1
MMRRC Submission 042869-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5285 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 85123663-85307617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85294686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 99 (K99R)
Ref Sequence ENSEMBL: ENSMUSP00000102802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030212] [ENSMUST00000107184] [ENSMUST00000107188] [ENSMUST00000107189]
AlphaFold Q62420
Predicted Effect probably benign
Transcript: ENSMUST00000030212
AA Change: K99R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488
AA Change: K99R

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 348 3.19e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107184
AA Change: K99R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102802
Gene: ENSMUSG00000028488
AA Change: K99R

DomainStartEndE-ValueType
BAR 5 177 1.24e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107188
AA Change: K99R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: K99R

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 351 4.78e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107189
AA Change: K99R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488
AA Change: K99R

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133109
AA Change: K36R
SMART Domains Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488
AA Change: K36R

DomainStartEndE-ValueType
BAR 1 180 3.83e-37 SMART
Meta Mutation Damage Score 0.0750 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,435,097 (GRCm39) T12A probably benign Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adcy8 G T 15: 64,639,706 (GRCm39) H685N possibly damaging Het
Aldh1l1 A T 6: 90,553,752 (GRCm39) K539* probably null Het
Ap1m2 G T 9: 21,216,933 (GRCm39) Y134* probably null Het
Apobr A G 7: 126,184,175 (GRCm39) probably benign Het
Atl1 A G 12: 70,001,273 (GRCm39) K345R probably benign Het
Avil T C 10: 126,854,328 (GRCm39) L765P probably damaging Het
Caps2 T A 10: 112,044,216 (GRCm39) Y472N probably benign Het
Catspere2 A G 1: 177,931,454 (GRCm39) K458E unknown Het
Cd177 A T 7: 24,445,674 (GRCm39) S590T probably benign Het
Cep295 T C 9: 15,233,887 (GRCm39) D2223G probably benign Het
Cfh T C 1: 140,028,636 (GRCm39) T493A probably benign Het
Chek1 T C 9: 36,625,748 (GRCm39) D299G probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Crhr1 A T 11: 104,061,323 (GRCm39) I243F possibly damaging Het
Cyp3a11 A G 5: 145,791,893 (GRCm39) V500A probably benign Het
Dcdc5 A T 2: 106,198,500 (GRCm39) noncoding transcript Het
Ergic3 A G 2: 155,859,957 (GRCm39) probably benign Het
Fabp3-ps1 T G 10: 86,568,066 (GRCm39) probably benign Het
Gm6445 C A 19: 9,585,032 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,107,474 (GRCm39) probably null Het
Ighv1-19-1 C A 12: 114,667,872 (GRCm39) probably benign Het
Igkv2-116 G T 6: 68,129,463 (GRCm39) R75L probably benign Het
Inhbc C A 10: 127,193,269 (GRCm39) R249L probably damaging Het
Lrrn2 T A 1: 132,866,983 (GRCm39) S683T possibly damaging Het
Lyst T C 13: 13,809,011 (GRCm39) V227A probably benign Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Msh4 T C 3: 153,579,350 (GRCm39) N587S probably benign Het
Mug1 G A 6: 121,818,066 (GRCm39) E126K probably benign Het
Nav2 T C 7: 49,197,982 (GRCm39) S1204P probably damaging Het
Ncor1 A G 11: 62,283,475 (GRCm39) I413T probably damaging Het
Nipa2 A T 7: 55,582,760 (GRCm39) Y328* probably null Het
Or1e25 T A 11: 73,493,767 (GRCm39) Y120* probably null Het
Or51a24 A G 7: 103,733,340 (GRCm39) *316R probably null Het
Or52s1 C T 7: 102,862,005 (GRCm39) R302* probably null Het
Or5k15 A T 16: 58,710,471 (GRCm39) Y37* probably null Het
Or5k3 T C 16: 58,969,633 (GRCm39) L140P probably damaging Het
Pla2g4e T C 2: 120,019,985 (GRCm39) D155G probably damaging Het
Plxnb1 C T 9: 108,937,527 (GRCm39) T1176I probably damaging Het
Polg A G 7: 79,114,973 (GRCm39) probably benign Het
Prl8a2 G A 13: 27,534,116 (GRCm39) probably null Het
Prmt7 G A 8: 106,974,991 (GRCm39) R529Q probably benign Het
Psg17 T A 7: 18,554,126 (GRCm39) L41F probably benign Het
Rad18 T C 6: 112,663,726 (GRCm39) R73G probably benign Het
Rhpn2 G T 7: 35,080,990 (GRCm39) probably benign Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sarm1 A G 11: 78,388,265 (GRCm39) F7S probably benign Het
Sgip1 T A 4: 102,778,674 (GRCm39) probably benign Het
Sorbs1 G A 19: 40,310,334 (GRCm39) T1018I probably damaging Het
Spns2 G A 11: 72,380,305 (GRCm39) A106V possibly damaging Het
Stab1 A G 14: 30,865,433 (GRCm39) probably benign Het
Steap3 T C 1: 120,169,610 (GRCm39) D191G probably damaging Het
Stxbp5 T C 10: 9,674,019 (GRCm39) probably null Het
Sycp2 A T 2: 178,034,191 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,509,200 (GRCm39) S2G possibly damaging Het
Usp24 T A 4: 106,264,230 (GRCm39) D1720E probably benign Het
Vmn1r200 G A 13: 22,579,457 (GRCm39) E78K possibly damaging Het
Vmn2r120 A G 17: 57,843,703 (GRCm39) L47P probably damaging Het
Vmn2r14 T C 5: 109,365,442 (GRCm39) N544S probably damaging Het
Vwa1 C T 4: 155,855,352 (GRCm39) A254T probably benign Het
Zfp7 G A 15: 76,775,422 (GRCm39) R488Q probably damaging Het
Zfp940 A T 7: 29,545,025 (GRCm39) L294H probably damaging Het
Other mutations in Sh3gl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Sh3gl2 APN 4 85,265,433 (GRCm39) splice site probably benign
PIT4362001:Sh3gl2 UTSW 4 85,295,786 (GRCm39) missense probably benign 0.00
R0699:Sh3gl2 UTSW 4 85,265,408 (GRCm39) missense probably benign 0.00
R0960:Sh3gl2 UTSW 4 85,295,717 (GRCm39) missense probably damaging 1.00
R1562:Sh3gl2 UTSW 4 85,304,130 (GRCm39) missense probably benign 0.00
R3877:Sh3gl2 UTSW 4 85,297,618 (GRCm39) missense possibly damaging 0.92
R4466:Sh3gl2 UTSW 4 85,299,688 (GRCm39) missense possibly damaging 0.62
R4630:Sh3gl2 UTSW 4 85,297,646 (GRCm39) missense probably damaging 1.00
R4811:Sh3gl2 UTSW 4 85,316,403 (GRCm39) intron probably benign
R4888:Sh3gl2 UTSW 4 85,297,494 (GRCm39) missense probably benign 0.17
R5018:Sh3gl2 UTSW 4 85,309,291 (GRCm39) unclassified probably benign
R5121:Sh3gl2 UTSW 4 85,297,494 (GRCm39) missense probably benign 0.17
R5484:Sh3gl2 UTSW 4 85,317,160 (GRCm39) intron probably benign
R5611:Sh3gl2 UTSW 4 85,273,568 (GRCm39) missense probably benign 0.39
R6029:Sh3gl2 UTSW 4 85,299,651 (GRCm39) missense probably damaging 0.97
R7048:Sh3gl2 UTSW 4 85,295,802 (GRCm39) missense probably damaging 1.00
R7715:Sh3gl2 UTSW 4 85,317,077 (GRCm39) splice site probably null
R7919:Sh3gl2 UTSW 4 85,273,595 (GRCm39) missense probably benign 0.19
R8298:Sh3gl2 UTSW 4 85,297,647 (GRCm39) missense possibly damaging 0.57
R8871:Sh3gl2 UTSW 4 85,305,817 (GRCm39) missense
R8897:Sh3gl2 UTSW 4 85,273,597 (GRCm39) missense probably benign 0.00
R9476:Sh3gl2 UTSW 4 85,304,089 (GRCm39) missense probably benign 0.00
R9510:Sh3gl2 UTSW 4 85,304,089 (GRCm39) missense probably benign 0.00
R9682:Sh3gl2 UTSW 4 85,295,748 (GRCm39) missense probably damaging 1.00
R9785:Sh3gl2 UTSW 4 85,273,618 (GRCm39) missense probably damaging 1.00
R9796:Sh3gl2 UTSW 4 85,295,765 (GRCm39) missense possibly damaging 0.45
Predicted Primers PCR Primer
(F):5'- CCAGCCCAGTTCCCATTATG -3'
(R):5'- GCTGCGTAGACAAATCACTTTAAAC -3'

Sequencing Primer
(F):5'- CAGCCCAGTTCCCATTATGAATAGTG -3'
(R):5'- CTGGCAGTCCTAAAATCACATTTC -3'
Posted On 2016-07-22