Incidental Mutation 'IGL01838:Grip2'
ID 155023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grip2
Ensembl Gene ENSMUSG00000030098
Gene Name glutamate receptor interacting protein 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01838
Quality Score
Status
Chromosome 6
Chromosomal Location 91738490-91804231 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91741744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 927 (V927A)
Ref Sequence ENSEMBL: ENSMUSP00000125047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159684] [ENSMUST00000162293] [ENSMUST00000162300]
AlphaFold G3XA20
Predicted Effect possibly damaging
Transcript: ENSMUST00000159684
AA Change: V927A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: V927A

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
PDZ 62 136 1.12e-12 SMART
PDZ 161 239 3.8e-15 SMART
PDZ 262 337 7.9e-13 SMART
low complexity region 385 390 N/A INTRINSIC
PDZ 426 506 2.18e-15 SMART
PDZ 527 602 3.86e-16 SMART
PDZ 625 699 1.38e-17 SMART
low complexity region 778 793 N/A INTRINSIC
low complexity region 867 878 N/A INTRINSIC
PDZ 910 982 2.95e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162293
SMART Domains Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098

DomainStartEndE-ValueType
PDZ 10 84 1.12e-12 SMART
PDZ 109 187 3.8e-15 SMART
PDZ 210 285 7.9e-13 SMART
low complexity region 336 348 N/A INTRINSIC
low complexity region 374 379 N/A INTRINSIC
PDZ 415 495 2.18e-15 SMART
PDZ 516 591 3.86e-16 SMART
PDZ 614 688 1.38e-17 SMART
low complexity region 767 782 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162300
AA Change: V968A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: V968A

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
PDZ 62 136 1.12e-12 SMART
PDZ 161 239 3.8e-15 SMART
PDZ 262 337 7.9e-13 SMART
low complexity region 388 400 N/A INTRINSIC
low complexity region 426 431 N/A INTRINSIC
PDZ 467 547 2.18e-15 SMART
PDZ 568 643 3.86e-16 SMART
PDZ 666 740 1.38e-17 SMART
low complexity region 819 834 N/A INTRINSIC
low complexity region 908 919 N/A INTRINSIC
PDZ 951 1023 2.95e-12 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are born in numbers expected by the Mendelian ratio and show no overt phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,499,035 (GRCm39) S208P probably benign Het
Cpe G T 8: 65,047,998 (GRCm39) T422K possibly damaging Het
Dis3l C A 9: 64,215,581 (GRCm39) V888L probably benign Het
Dnah7b T A 1: 46,397,297 (GRCm39) Y3909* probably null Het
Dnajb8 G A 6: 88,200,033 (GRCm39) V190M possibly damaging Het
Hyal3 C T 9: 107,463,786 (GRCm39) R304C possibly damaging Het
Igkv8-21 A G 6: 70,292,009 (GRCm39) S78P probably damaging Het
Lrrc7 A G 3: 157,891,100 (GRCm39) S356P probably damaging Het
Meiob T C 17: 25,042,643 (GRCm39) V157A possibly damaging Het
Mrpl48 C T 7: 100,201,860 (GRCm39) V35M probably damaging Het
Myo9b T C 8: 71,787,034 (GRCm39) Y739H probably damaging Het
Nfyb A G 10: 82,586,642 (GRCm39) L174S probably benign Het
Prm2 T C 16: 10,609,672 (GRCm39) probably benign Het
Prss50 T C 9: 110,693,560 (GRCm39) L432P probably benign Het
Raly T A 2: 154,701,590 (GRCm39) probably benign Het
Scn11a A T 9: 119,587,649 (GRCm39) M1365K probably damaging Het
Slc28a2b C A 2: 122,348,464 (GRCm39) F270L possibly damaging Het
Spred1 T G 2: 117,008,062 (GRCm39) S323A probably benign Het
Svep1 T C 4: 58,121,910 (GRCm39) E761G possibly damaging Het
Thbs3 A T 3: 89,126,365 (GRCm39) K229* probably null Het
Thoc1 G A 18: 9,993,386 (GRCm39) G582S possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Vmn2r114 T C 17: 23,515,956 (GRCm39) T512A probably benign Het
Wee1 T C 7: 109,723,744 (GRCm39) S220P probably benign Het
Other mutations in Grip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Grip2 APN 6 91,759,878 (GRCm39) missense probably benign 0.00
IGL01748:Grip2 APN 6 91,741,724 (GRCm39) missense probably damaging 1.00
IGL02392:Grip2 APN 6 91,764,276 (GRCm39) missense probably damaging 1.00
IGL02620:Grip2 APN 6 91,755,587 (GRCm39) missense possibly damaging 0.93
IGL02862:Grip2 APN 6 91,765,085 (GRCm39) missense probably damaging 0.98
IGL03027:Grip2 APN 6 91,755,852 (GRCm39) missense probably benign 0.02
IGL03180:Grip2 APN 6 91,762,742 (GRCm39) splice site probably benign
R0265:Grip2 UTSW 6 91,750,773 (GRCm39) critical splice donor site probably null
R0448:Grip2 UTSW 6 91,756,194 (GRCm39) missense probably damaging 1.00
R0597:Grip2 UTSW 6 91,773,178 (GRCm39) intron probably benign
R1405:Grip2 UTSW 6 91,765,133 (GRCm39) splice site probably null
R1405:Grip2 UTSW 6 91,765,133 (GRCm39) splice site probably null
R1466:Grip2 UTSW 6 91,765,424 (GRCm39) missense probably damaging 0.98
R1466:Grip2 UTSW 6 91,765,424 (GRCm39) missense probably damaging 0.98
R1664:Grip2 UTSW 6 91,742,233 (GRCm39) missense probably damaging 1.00
R1703:Grip2 UTSW 6 91,754,379 (GRCm39) missense probably damaging 1.00
R1793:Grip2 UTSW 6 91,760,623 (GRCm39) missense probably benign 0.03
R1951:Grip2 UTSW 6 91,760,829 (GRCm39) missense probably damaging 1.00
R2001:Grip2 UTSW 6 91,756,831 (GRCm39) missense probably benign 0.00
R4730:Grip2 UTSW 6 91,762,693 (GRCm39) makesense probably null
R4754:Grip2 UTSW 6 91,756,173 (GRCm39) missense probably damaging 0.97
R4754:Grip2 UTSW 6 91,756,163 (GRCm39) missense probably damaging 1.00
R4773:Grip2 UTSW 6 91,759,413 (GRCm39) missense possibly damaging 0.80
R5135:Grip2 UTSW 6 91,750,897 (GRCm39) missense possibly damaging 0.89
R5213:Grip2 UTSW 6 91,756,812 (GRCm39) missense probably benign 0.04
R5972:Grip2 UTSW 6 91,784,262 (GRCm39) missense probably benign 0.01
R6176:Grip2 UTSW 6 91,756,832 (GRCm39) missense probably benign 0.00
R6188:Grip2 UTSW 6 91,740,514 (GRCm39) missense probably damaging 1.00
R6289:Grip2 UTSW 6 91,755,852 (GRCm39) missense probably benign 0.02
R6345:Grip2 UTSW 6 91,742,369 (GRCm39) missense possibly damaging 0.91
R6348:Grip2 UTSW 6 91,757,419 (GRCm39) missense probably damaging 0.99
R6394:Grip2 UTSW 6 91,764,182 (GRCm39) missense probably damaging 1.00
R6658:Grip2 UTSW 6 91,763,472 (GRCm39) missense probably damaging 1.00
R7065:Grip2 UTSW 6 91,760,550 (GRCm39) critical splice donor site probably null
R7074:Grip2 UTSW 6 91,761,689 (GRCm39) missense probably benign 0.24
R7308:Grip2 UTSW 6 91,755,669 (GRCm39) missense possibly damaging 0.74
R7607:Grip2 UTSW 6 91,765,393 (GRCm39) missense probably benign
R7617:Grip2 UTSW 6 91,742,031 (GRCm39) splice site probably null
R7970:Grip2 UTSW 6 91,763,513 (GRCm39) missense probably benign 0.07
R8221:Grip2 UTSW 6 91,762,665 (GRCm39) missense possibly damaging 0.90
R8549:Grip2 UTSW 6 91,750,769 (GRCm39) splice site probably null
R8838:Grip2 UTSW 6 91,762,721 (GRCm39) utr 3 prime probably benign
R8962:Grip2 UTSW 6 91,754,391 (GRCm39) missense probably damaging 1.00
R9430:Grip2 UTSW 6 91,784,265 (GRCm39) missense probably benign 0.05
R9699:Grip2 UTSW 6 91,742,318 (GRCm39) missense probably benign
R9732:Grip2 UTSW 6 91,761,686 (GRCm39) missense probably damaging 0.99
RF003:Grip2 UTSW 6 91,760,574 (GRCm39) missense probably benign 0.02
Z1176:Grip2 UTSW 6 91,740,491 (GRCm39) missense possibly damaging 0.55
Posted On 2014-02-04