Incidental Mutation 'R6029:Sh3gl2'
ID 480241
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 044201-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6029 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 85123663-85307617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85299651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 212 (V212M)
Ref Sequence ENSEMBL: ENSMUSP00000102806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030212] [ENSMUST00000107184] [ENSMUST00000107188] [ENSMUST00000107189]
AlphaFold Q62420
Predicted Effect probably damaging
Transcript: ENSMUST00000030212
AA Change: V212M

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488
AA Change: V212M

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 damaging
Transcript: ENSMUST00000107188
AA Change: V212M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: V212M

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 351 4.78e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107189
AA Change: V212M

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488
AA Change: V212M

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133109
AA Change: V149M
SMART Domains Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488
AA Change: V149M

DomainStartEndE-ValueType
BAR 1 180 3.83e-37 SMART
Meta Mutation Damage Score 0.2088 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency 97% (87/90)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,524,370 (GRCm39) probably null Het
Adi1 G A 12: 28,729,318 (GRCm39) probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Apob A G 12: 8,066,243 (GRCm39) E4371G probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Aspm T G 1: 139,408,728 (GRCm39) C2538W possibly damaging Het
Brd10 A G 19: 29,732,367 (GRCm39) probably benign Het
Btbd16 T C 7: 130,420,802 (GRCm39) V353A probably benign Het
Cad C T 5: 31,212,327 (GRCm39) S10L possibly damaging Het
Cdc42bpa T C 1: 179,939,352 (GRCm39) S877P probably damaging Het
Cep152 A T 2: 125,405,552 (GRCm39) V1660D probably benign Het
Clrn2 G T 5: 45,617,528 (GRCm39) G133V probably damaging Het
Clstn2 T C 9: 97,338,634 (GRCm39) I842V probably benign Het
Cpt1c C T 7: 44,614,548 (GRCm39) A434T probably benign Het
D130052B06Rik G T 11: 33,573,477 (GRCm39) V70L possibly damaging Het
Dlg1 T A 16: 31,612,388 (GRCm39) V317E probably damaging Het
Dock10 T C 1: 80,514,663 (GRCm39) E1084G possibly damaging Het
Dync2h1 A G 9: 7,157,646 (GRCm39) V827A probably benign Het
E030030I06Rik A G 10: 22,024,832 (GRCm39) L27P unknown Het
Ero1b T A 13: 12,589,714 (GRCm39) L39Q probably damaging Het
Erp27 T C 6: 136,888,609 (GRCm39) D123G probably damaging Het
Fasn G T 11: 120,711,735 (GRCm39) F148L probably damaging Het
Fbxl5 T C 5: 43,922,746 (GRCm39) E218G probably damaging Het
Fbxw28 A T 9: 109,158,493 (GRCm39) D210E probably damaging Het
Gm10653 T A 9: 62,748,796 (GRCm39) probably benign Het
Gm17067 A G 7: 42,357,554 (GRCm39) L316S probably benign Het
Gm29106 T C 1: 118,127,990 (GRCm39) S561P probably damaging Het
Hmcn1 C A 1: 150,508,188 (GRCm39) K3699N probably benign Het
Itch T A 2: 155,021,009 (GRCm39) probably null Het
Itpr3 C T 17: 27,317,145 (GRCm39) A800V probably damaging Het
Kdm2b A T 5: 123,017,650 (GRCm39) M1052K probably damaging Het
Kdm4b T C 17: 56,703,576 (GRCm39) M712T probably damaging Het
Kmt5b A G 19: 3,852,104 (GRCm39) E137G probably damaging Het
Krt33a G A 11: 99,903,289 (GRCm39) T251I probably benign Het
Lrrc4b G T 7: 44,111,754 (GRCm39) R542L probably benign Het
Macf1 C A 4: 123,401,126 (GRCm39) S653I probably damaging Het
Macrod2 G A 2: 142,160,367 (GRCm39) V408M probably damaging Het
Macroh2a2 T C 10: 61,583,541 (GRCm39) T200A possibly damaging Het
Mapkapk3 G T 9: 107,166,425 (GRCm39) A40E possibly damaging Het
Mmp20 G A 9: 7,639,302 (GRCm39) V157I probably benign Het
Mrps28 T C 3: 8,988,805 (GRCm39) R18G possibly damaging Het
Msrb2 T A 2: 19,399,122 (GRCm39) C162S probably damaging Het
Naa80 A G 9: 107,460,753 (GRCm39) Y216C probably damaging Het
Nckap5 T G 1: 125,953,523 (GRCm39) T1078P possibly damaging Het
Nectin3 T C 16: 46,256,763 (GRCm39) Y91C probably benign Het
Nf2 G T 11: 4,734,566 (GRCm39) probably null Het
Or10d1b G A 9: 39,613,696 (GRCm39) A123V probably damaging Het
Or13a23-ps1 A T 7: 140,118,789 (GRCm39) M120L unknown Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2y10 A T 11: 49,455,428 (GRCm39) I227F possibly damaging Het
Or4c29 T C 2: 88,740,380 (GRCm39) D119G probably damaging Het
Or4g7 T A 2: 111,309,310 (GRCm39) Y60* probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Oxr1 T G 15: 41,689,297 (GRCm39) L507W probably damaging Het
Plxna2 A T 1: 194,481,883 (GRCm39) K1451M probably damaging Het
Plxna2 A G 1: 194,476,735 (GRCm39) M1184V probably benign Het
Pofut1 G A 2: 153,101,713 (GRCm39) probably null Het
Ppp1r16b T C 2: 158,597,137 (GRCm39) V257A possibly damaging Het
Prss56 G A 1: 87,115,279 (GRCm39) W498* probably null Het
Ptpru A G 4: 131,498,604 (GRCm39) F1329S probably damaging Het
Pusl1 A G 4: 155,973,920 (GRCm39) F278S probably damaging Het
Qars1 A T 9: 108,390,889 (GRCm39) L470F probably damaging Het
Rbm8a2 T C 1: 175,806,312 (GRCm39) D55G probably benign Het
Rora T A 9: 69,271,734 (GRCm39) N181K probably benign Het
Rufy3 A G 5: 88,775,114 (GRCm39) D262G probably damaging Het
Sis G A 3: 72,835,641 (GRCm39) T907I probably benign Het
Slc38a3 A T 9: 107,529,374 (GRCm39) I456N probably damaging Het
Slc4a8 T A 15: 100,705,220 (GRCm39) C809S probably benign Het
Snap91 A T 9: 86,707,133 (GRCm39) probably null Het
Spaca6 A G 17: 18,051,458 (GRCm39) T45A probably benign Het
Speer1m A T 5: 11,970,680 (GRCm39) L84F probably damaging Het
Spry1 T C 3: 37,696,997 (GRCm39) I80T possibly damaging Het
St8sia2 A G 7: 73,610,458 (GRCm39) L275P possibly damaging Het
Supt7l C A 5: 31,684,331 (GRCm39) probably null Het
Tdo2 T A 3: 81,868,747 (GRCm39) K304N probably damaging Het
Tdrd12 A T 7: 35,184,655 (GRCm39) Y753N probably damaging Het
Topbp1 A T 9: 103,222,152 (GRCm39) Q1341L probably benign Het
Trim14 G T 4: 46,506,998 (GRCm39) A406E probably benign Het
Trp63 C T 16: 25,686,964 (GRCm39) R393W probably damaging Het
Trrap T C 5: 144,754,489 (GRCm39) V1932A possibly damaging Het
Trrap T C 5: 144,762,724 (GRCm39) M2399T possibly damaging Het
Unc45b A G 11: 82,804,153 (GRCm39) N110S probably damaging Het
Usp32 G T 11: 84,916,408 (GRCm39) H845Q probably damaging Het
Usp44 G A 10: 93,682,494 (GRCm39) D268N probably damaging Het
Vmn1r18 T G 6: 57,367,451 (GRCm39) R34S possibly damaging Het
Vmn2r103 T A 17: 20,014,478 (GRCm39) Y423* probably null Het
Wapl A T 14: 34,461,204 (GRCm39) E1054V possibly damaging Het
Zbtb8b A G 4: 129,322,286 (GRCm39) Y392H probably damaging Het
Zdhhc2 A T 8: 40,925,968 (GRCm39) Q321L probably null Het
Zfp983 A G 17: 21,881,401 (GRCm39) D443G probably benign 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
R5285:Sh3gl2 UTSW 4 85,294,686 (GRCm39) missense probably benign 0.03
R5484:Sh3gl2 UTSW 4 85,317,160 (GRCm39) intron probably benign
R5611:Sh3gl2 UTSW 4 85,273,568 (GRCm39) missense probably benign 0.39
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'- GGTACTACAGGCATTTCTGAGTG -3'
(R):5'- GTGCAAAGTCAAATCAAGCAGC -3'

Sequencing Primer
(F):5'- ACTACAGGCATTTCTGAGTGTAAGG -3'
(R):5'- AATGTTGGTCTCCGAGTGTCATC -3'
Posted On 2017-06-26