Incidental Mutation 'R4466:Sh3gl2'
ID 330339
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 041723-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4466 (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 85299688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 224 (E224G)
Ref Sequence ENSEMBL: ENSMUSP00000102806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030212] [ENSMUST00000107184] [ENSMUST00000107188] [ENSMUST00000107189]
AlphaFold Q62420
Predicted Effect probably benign
Transcript: ENSMUST00000030212
AA Change: E224G

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488
AA Change: E224G

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 possibly damaging
Transcript: ENSMUST00000107188
AA Change: E224G

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: E224G

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
SH3 293 351 4.78e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107189
AA Change: E224G

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488
AA Change: E224G

DomainStartEndE-ValueType
BAR 5 242 2.13e-94 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133109
AA Change: E161G
SMART Domains Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488
AA Change: E161G

DomainStartEndE-ValueType
BAR 1 180 3.83e-37 SMART
Meta Mutation Damage Score 0.4236 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A T 3: 59,745,887 (GRCm39) noncoding transcript Het
Adgra1 T A 7: 139,420,752 (GRCm39) probably benign Het
Akap13 T A 7: 75,252,521 (GRCm39) probably null Het
Amn1 T C 6: 149,068,343 (GRCm39) probably null Het
Ano5 T A 7: 51,220,023 (GRCm39) F374I probably damaging Het
Apol7c T C 15: 77,410,664 (GRCm39) E94G probably benign Het
Arid4b A T 13: 14,307,095 (GRCm39) S117C probably damaging Het
Atm C A 9: 53,359,469 (GRCm39) E2778* probably null Het
Cped1 A T 6: 22,123,651 (GRCm39) Q468L probably benign Het
Crygb A G 1: 65,119,645 (GRCm39) S112P probably damaging Het
Eeig2 T A 3: 108,887,124 (GRCm39) R291S probably benign Het
Eml4 C T 17: 83,729,103 (GRCm39) Q93* probably null Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fhad1 A T 4: 141,684,969 (GRCm39) S457T probably damaging Het
Frmd4b A G 6: 97,300,614 (GRCm39) probably null Het
Gm5134 G C 10: 75,844,409 (GRCm39) K588N probably benign Het
Gpr21 A G 2: 37,407,570 (GRCm39) T39A probably benign Het
Irx1 C A 13: 72,108,101 (GRCm39) G194W probably damaging Het
Itgal C T 7: 126,927,684 (GRCm39) T992I possibly damaging Het
Itpr3 T C 17: 27,325,316 (GRCm39) L1303P probably damaging Het
Kdm2a A T 19: 4,370,328 (GRCm39) D1052E probably damaging Het
Klhl6 T C 16: 19,776,018 (GRCm39) D180G probably damaging Het
M6pr A G 6: 122,290,228 (GRCm39) T64A probably benign Het
Mrpl47 G A 3: 32,784,240 (GRCm39) R177* probably null Het
Mtfr2 A G 10: 20,224,159 (GRCm39) Y31C probably damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Oas2 A G 5: 120,887,667 (GRCm39) S58P probably damaging Het
Or1j11 A T 2: 36,312,308 (GRCm39) R299S probably benign Het
Or5b124 G A 19: 13,610,801 (GRCm39) E109K probably damaging Het
Or8b36 T A 9: 37,937,479 (GRCm39) C126S probably damaging Het
Polr1b A T 2: 128,965,802 (GRCm39) I815L probably benign Het
Psma8 T C 18: 14,854,231 (GRCm39) I37T possibly damaging Het
Ryr3 T C 2: 112,483,447 (GRCm39) E4100G possibly damaging Het
Serpina3g C T 12: 104,204,182 (GRCm39) probably benign Het
Serpina3m A T 12: 104,357,874 (GRCm39) Y266F probably damaging Het
Sez6l2 T A 7: 126,559,023 (GRCm39) D423E probably damaging Het
Sh3pxd2a A G 19: 47,353,146 (GRCm39) V105A possibly damaging Het
Slc24a2 A T 4: 87,146,099 (GRCm39) probably benign Het
Smyd2 A G 1: 189,614,349 (GRCm39) M393T probably benign Het
Sox8 C A 17: 25,787,879 (GRCm39) G190V probably benign Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stk35 C A 2: 129,643,436 (GRCm39) T140K probably damaging Het
Taf6 A C 5: 138,179,463 (GRCm39) probably benign Het
Ten1 A C 11: 116,095,823 (GRCm39) probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttn A G 2: 76,544,044 (GRCm39) F32981L probably damaging Het
Zik1 G T 7: 10,224,893 (GRCm39) T68K probably benign Het
Zzef1 T A 11: 72,815,485 (GRCm39) I2935N 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
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
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'- GCATTTCTGAGTGTAAGGATGCTC -3'
(R):5'- GTGCAAAGTCAAATCAAGCAGC -3'

Sequencing Primer
(F):5'- CTGAGTGTAAGGATGCTCTCAAATTC -3'
(R):5'- TCAAGCAGCCCCTCCAGG -3'
Posted On 2015-07-21