Incidental Mutation 'R4754:Grip2'
ID 357802
Institutional Source Beutler Lab
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 # R4754 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91738490-91804231 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91756173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 505 (T505A)
Ref Sequence ENSEMBL: ENSMUSP00000124717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159684] [ENSMUST00000161566] [ENSMUST00000162293] [ENSMUST00000162300]
AlphaFold G3XA20
Predicted Effect probably benign
Transcript: ENSMUST00000159684
AA Change: T516A

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: T516A

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: ENSMUST00000161566
SMART Domains Protein: ENSMUSP00000123941
Gene: ENSMUSG00000030098

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
PDZ 62 136 9.96e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162293
AA Change: T505A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: T505A

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 probably benign
Transcript: ENSMUST00000162300
AA Change: T557A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: T557A

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 98% (107/109)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,856,837 (GRCm39) Y63C probably damaging Het
Abcb4 C A 5: 8,960,717 (GRCm39) F266L probably damaging Het
Adam8 A T 7: 139,564,693 (GRCm39) I681N possibly damaging Het
Adgrf3 T A 5: 30,402,615 (GRCm39) probably null Het
Ang2 A G 14: 51,432,974 (GRCm39) V136A probably damaging Het
Ankar C T 1: 72,737,853 (GRCm39) G110R probably damaging Het
Ap3b1 T C 13: 94,540,468 (GRCm39) L130P probably damaging Het
Apc2 T G 10: 80,150,192 (GRCm39) W1749G probably benign Het
Asb2 T C 12: 103,290,096 (GRCm39) N565S possibly damaging Het
B3gnt7 C A 1: 86,233,279 (GRCm39) T58K probably benign Het
Bltp1 C T 3: 37,076,615 (GRCm39) Q3663* probably null Het
Brpf1 T A 6: 113,297,408 (GRCm39) N876K possibly damaging Het
Ccdc157 T C 11: 4,098,994 (GRCm39) I69V possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh20 A T 1: 104,912,410 (GRCm39) I555F probably damaging Het
Cfap73 T C 5: 120,767,729 (GRCm39) D274G probably damaging Het
Chd5 T A 4: 152,462,203 (GRCm39) I1310N probably damaging Het
Ckap2 T A 8: 22,658,911 (GRCm39) I611F possibly damaging Het
Cpeb2 A G 5: 43,443,200 (GRCm39) I964V possibly damaging Het
Ctbp2 C A 7: 132,625,287 (GRCm39) probably null Het
Dhrs2 A T 14: 55,476,205 (GRCm39) I142F probably damaging Het
Dnah5 T A 15: 28,421,101 (GRCm39) probably null Het
Dst T C 1: 34,251,390 (GRCm39) S1822P probably damaging Het
Ect2 T C 3: 27,181,112 (GRCm39) K581E probably damaging Het
Edem1 C T 6: 108,818,658 (GRCm39) T222M probably damaging Het
Eif2ak1 A G 5: 143,838,621 (GRCm39) M592V probably damaging Het
Endou T G 15: 97,624,420 (GRCm39) D49A probably damaging Het
Ensa A G 3: 95,529,865 (GRCm39) probably benign Het
Evc2 G T 5: 37,544,375 (GRCm39) R708L probably damaging Het
Fam120b T A 17: 15,643,224 (GRCm39) C668S probably damaging Het
Fam135a A T 1: 24,067,835 (GRCm39) C798* probably null Het
Fam135b T C 15: 71,334,800 (GRCm39) D798G probably benign Het
Fshb A C 2: 106,887,627 (GRCm39) *131E probably null Het
G3bp2 C T 5: 92,202,768 (GRCm39) V441M possibly damaging Het
Galnt6 A T 15: 100,597,105 (GRCm39) F354I probably damaging Het
Gm1123 C A 9: 98,905,293 (GRCm39) probably null Het
Gm1123 A T 9: 98,905,294 (GRCm39) probably null Het
Gm15130 T C 2: 110,973,207 (GRCm39) N115S unknown Het
Gm7104 A G 12: 88,252,765 (GRCm39) noncoding transcript Het
Gm9762 A T 3: 78,873,728 (GRCm39) noncoding transcript Het
Haus4 A G 14: 54,787,349 (GRCm39) probably null Het
Herc1 T A 9: 66,408,488 (GRCm39) D4571E probably benign Het
Hnrnpk T A 13: 58,546,950 (GRCm39) probably benign Het
Ica1l T C 1: 60,067,321 (GRCm39) Y23C probably damaging Het
Kansl2-ps A G 7: 72,322,881 (GRCm39) noncoding transcript Het
Kcnma1 T C 14: 23,413,904 (GRCm39) D833G probably damaging Het
Kmt2e A T 5: 23,687,439 (GRCm39) I430F possibly damaging Het
Lama2 C A 10: 26,994,527 (GRCm39) R1794L possibly damaging Het
Mcpt1 T A 14: 56,256,137 (GRCm39) F59I probably damaging Het
Mib2 G T 4: 155,739,822 (GRCm39) T783K possibly damaging Het
Nlrp4g T C 9: 124,349,788 (GRCm38) noncoding transcript Het
Nudt16l2 A T 9: 105,021,592 (GRCm39) F151L probably benign Het
Obscn T C 11: 58,926,869 (GRCm39) I6352V possibly damaging Het
Or2j6 C T 7: 139,980,072 (GRCm39) A296T probably damaging Het
Or4a72 A T 2: 89,405,391 (GRCm39) H226Q probably benign Het
Or4k1 T A 14: 50,377,490 (GRCm39) N202I possibly damaging Het
Or4k1 T G 14: 50,377,491 (GRCm39) N202H probably benign Het
Or52a5 T C 7: 103,426,875 (GRCm39) I226V probably benign Het
Or5b125-ps1 T A 19: 13,056,225 (GRCm39) noncoding transcript Het
Pcdh10 G A 3: 45,335,072 (GRCm39) R462H probably damaging Het
Pcdhga12 C A 18: 37,899,604 (GRCm39) N145K probably damaging Het
Pik3r6 T A 11: 68,435,601 (GRCm39) L613Q probably damaging Het
Pknox2 T C 9: 36,821,016 (GRCm39) D282G probably damaging Het
Plod2 T G 9: 92,488,584 (GRCm39) Y624* probably null Het
Prkd3 C A 17: 79,264,043 (GRCm39) V684F probably damaging Het
Ptpn1 T A 2: 167,816,080 (GRCm39) V198D probably damaging Het
Ptpn12 G T 5: 21,203,587 (GRCm39) P397Q probably benign Het
Rad1 C A 15: 10,493,212 (GRCm39) probably benign Het
Rasl11a A G 5: 146,783,825 (GRCm39) D90G probably benign Het
Rnf181 A G 6: 72,337,543 (GRCm39) probably benign Het
Ryr3 T C 2: 112,587,984 (GRCm39) I2652M possibly damaging Het
Siglecg C T 7: 43,061,295 (GRCm39) probably benign Het
Slc22a3 T C 17: 12,726,082 (GRCm39) S44G probably benign Het
Slc38a1 A T 15: 96,474,663 (GRCm39) F463I probably damaging Het
Smg1 A T 7: 117,755,954 (GRCm39) probably benign Het
Syk T C 13: 52,766,295 (GRCm39) probably benign Het
Tasor A T 14: 27,183,052 (GRCm39) I504L probably benign Het
Tbc1d5 T C 17: 51,107,193 (GRCm39) I454M probably benign Het
Tmed6 C A 8: 107,790,362 (GRCm39) D146Y probably damaging Het
Tmem132e A T 11: 82,335,677 (GRCm39) K828* probably null Het
Tmprss15 A T 16: 78,851,012 (GRCm39) S294T probably damaging Het
Trp53bp1 A G 2: 121,038,360 (GRCm39) S1493P probably damaging Het
Tshb A T 3: 102,685,491 (GRCm39) I46N probably damaging Het
Tspan11 T C 6: 127,915,183 (GRCm39) V99A probably benign Het
Ttn T C 2: 76,545,905 (GRCm39) T24176A probably benign Het
Vmn1r8 T C 6: 57,012,952 (GRCm39) M1T probably null Het
Vmn2r104 A T 17: 20,261,030 (GRCm39) Y464* probably null Het
Vmn2r110 T C 17: 20,816,458 (GRCm39) T22A probably benign Het
Vmn2r17 T A 5: 109,600,715 (GRCm39) I671K probably damaging Het
Zbtb21 T C 16: 97,752,466 (GRCm39) N606D probably damaging Het
Zfy2 A T Y: 2,121,477 (GRCm39) S139T probably benign Het
Zkscan17 G A 11: 59,393,851 (GRCm39) R156* probably null Het
Zp2 A G 7: 119,737,541 (GRCm39) V248A 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
IGL01838:Grip2 APN 6 91,741,744 (GRCm39) missense possibly damaging 0.92
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 91,756,163 (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
Predicted Primers
Posted On 2015-11-11