Incidental Mutation 'R7607:Grip2'
ID 588367
Institutional Source Beutler Lab
Gene Symbol Grip2
Ensembl Gene ENSMUSG00000030098
Gene Name glutamate receptor interacting protein 2
Synonyms
MMRRC Submission 045677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7607 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 91761509-91827250 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91788412 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000124709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159684] [ENSMUST00000161566] [ENSMUST00000162293] [ENSMUST00000162300]
AlphaFold G3XA20
Predicted Effect probably benign
Transcript: ENSMUST00000159684
AA Change: T30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: T30A

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
SMART Domains Protein: ENSMUSP00000125538
Gene: ENSMUSG00000030098
AA Change: T26A

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
PDB:2QT5|B 42 89 3e-9 PDB
SCOP:d1lcya1 47 89 2e-7 SMART
low complexity region 103 119 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161566
AA Change: T30A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123941
Gene: ENSMUSG00000030098
AA Change: T30A

DomainStartEndE-ValueType
low complexity region 25 36 N/A INTRINSIC
PDZ 62 136 9.96e-10 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 probably benign
Transcript: ENSMUST00000162300
AA Change: T30A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: T30A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (69/70)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010K14Rik A T 11: 70,237,557 (GRCm38) H30Q probably damaging Het
A930009A15Rik G A 10: 115,581,989 (GRCm38) probably null Het
Abca7 T C 10: 80,011,833 (GRCm38) L1779P probably damaging Het
Aff1 G A 5: 103,849,459 (GRCm38) V1140I possibly damaging Het
Ano2 C T 6: 125,712,419 (GRCm38) A169V probably damaging Het
Atat1 T C 17: 35,909,107 (GRCm38) Y101C possibly damaging Het
Atp6v1c1 T C 15: 38,683,011 (GRCm38) probably null Het
Atp7b T G 8: 22,011,506 (GRCm38) K912T probably damaging Het
Ceacam14 T C 7: 17,814,321 (GRCm38) V112A possibly damaging Het
Cfap107 T A 4: 144,419,762 (GRCm38) H107L probably damaging Het
Cobll1 T C 2: 65,095,857 (GRCm38) N1119S probably benign Het
Csmd1 G T 8: 15,918,331 (GRCm38) Q3099K possibly damaging Het
Cyp3a25 A G 5: 145,984,981 (GRCm38) V381A possibly damaging Het
Dctn1 C T 6: 83,195,069 (GRCm38) R948* probably null Het
Dhrs3 A G 4: 144,923,940 (GRCm38) T219A probably benign Het
Epha7 C T 4: 28,871,937 (GRCm38) S422L probably benign Het
Esrp1 A G 4: 11,384,449 (GRCm38) V78A probably damaging Het
Evc2 A G 5: 37,386,856 (GRCm38) T650A possibly damaging Het
Exoc6b T A 6: 84,989,409 (GRCm38) K194N possibly damaging Het
Fer1l6 G A 15: 58,662,732 (GRCm38) W1809* probably null Het
Frmd4a T A 2: 4,591,936 (GRCm38) L156* probably null Het
Gk5 A T 9: 96,153,210 (GRCm38) probably null Het
Gm3573 A G 14: 42,189,750 (GRCm38) F8L probably benign Het
Gm9767 G A 10: 26,078,940 (GRCm38) C130Y unknown Het
Gskip C A 12: 105,698,897 (GRCm38) A65E possibly damaging Het
Gtf2e2 A G 8: 33,776,465 (GRCm38) R259G probably benign Het
Gucy1b2 T A 14: 62,419,177 (GRCm38) I244F probably damaging Het
Gxylt2 G T 6: 100,798,190 (GRCm38) V357L possibly damaging Het
Hivep3 CGG CG 4: 120,097,911 (GRCm38) 1141 probably null Het
Igdcc4 C T 9: 65,133,758 (GRCm38) P1024S possibly damaging Het
Ino80 A T 2: 119,382,269 (GRCm38) probably null Het
Knl1 T C 2: 119,095,133 (GRCm38) F1881S possibly damaging Het
Mbd6 T C 10: 127,285,230 (GRCm38) E518G unknown Het
Mlh1 A G 9: 111,229,890 (GRCm38) S689P probably damaging Het
Mmrn2 T C 14: 34,398,940 (GRCm38) I589T possibly damaging Het
Mtmr12 C T 15: 12,257,708 (GRCm38) Q291* probably null Het
Mup8 T A 4: 60,222,035 (GRCm38) I33F probably benign Het
Mylk C T 16: 34,894,814 (GRCm38) P504L probably benign Het
Ntrk3 C T 7: 78,250,873 (GRCm38) A573T probably benign Het
Obscn G T 11: 58,998,265 (GRCm38) S7560R unknown Het
Or1m1 A G 9: 18,754,882 (GRCm38) F251S possibly damaging Het
Or52z12 A C 7: 103,584,930 (GRCm38) T303P probably damaging Het
Pde1c T C 6: 56,150,628 (GRCm38) T391A probably damaging Het
Pla2g4d T A 2: 120,288,976 (GRCm38) H19L probably benign Het
Plce1 C A 19: 38,524,752 (GRCm38) A165E probably benign Het
Polr1a T C 6: 71,913,021 (GRCm38) S75P probably benign Het
Psg21 T C 7: 18,654,783 (GRCm38) E128G probably benign Het
Radil A G 5: 142,506,613 (GRCm38) I420T probably damaging Het
Radil A T 5: 142,494,795 (GRCm38) M635K probably damaging Het
Rnase11 G A 14: 51,049,572 (GRCm38) T175I probably damaging Het
Robo1 C T 16: 72,563,738 (GRCm38) P13S Het
Slc18a2 C A 19: 59,284,358 (GRCm38) A364D probably benign Het
Snph C T 2: 151,594,586 (GRCm38) D141N probably damaging Het
Snrnp70 T C 7: 45,392,264 (GRCm38) K70R possibly damaging Het
Snx33 T C 9: 56,926,713 (GRCm38) D24G probably benign Het
Spag6 T A 2: 18,731,962 (GRCm38) D165E possibly damaging Het
Spata31 T G 13: 64,921,592 (GRCm38) L518R probably damaging Het
Spata31e3 T C 13: 50,250,260 (GRCm38) E2G possibly damaging Het
Sspo G A 6: 48,489,727 (GRCm38) V4059M probably damaging Het
St6galnac2 T C 11: 116,679,979 (GRCm38) Y261C probably damaging Het
Stoml1 A G 9: 58,256,658 (GRCm38) R87G probably damaging Het
Suv39h2 T C 2: 3,474,829 (GRCm38) T40A unknown Het
Terb2 G T 2: 122,186,475 (GRCm38) G26W probably damaging Het
Tmem62 T C 2: 120,996,440 (GRCm38) I406T probably benign Het
Tnfrsf11a G A 1: 105,844,732 (GRCm38) V582I probably benign Het
Tpsg1 G T 17: 25,373,210 (GRCm38) G86V probably damaging Het
Unc13c T C 9: 73,669,535 (GRCm38) D1480G probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 (GRCm38) probably benign Het
Vmn1r48 C A 6: 90,035,980 (GRCm38) V288L probably benign Het
Vmn2r13 A G 5: 109,173,640 (GRCm38) V397A probably damaging Het
Vmn2r98 A G 17: 19,067,308 (GRCm38) N468D possibly damaging Het
Zfhx2 G T 14: 55,066,231 (GRCm38) T1432K possibly damaging Het
Zswim5 T A 4: 116,986,742 (GRCm38) D992E possibly damaging Het
Other mutations in Grip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Grip2 APN 6 91,782,897 (GRCm38) missense probably benign 0.00
IGL01748:Grip2 APN 6 91,764,743 (GRCm38) missense probably damaging 1.00
IGL01838:Grip2 APN 6 91,764,763 (GRCm38) missense possibly damaging 0.92
IGL02392:Grip2 APN 6 91,787,295 (GRCm38) missense probably damaging 1.00
IGL02620:Grip2 APN 6 91,778,606 (GRCm38) missense possibly damaging 0.93
IGL02862:Grip2 APN 6 91,788,104 (GRCm38) missense probably damaging 0.98
IGL03027:Grip2 APN 6 91,778,871 (GRCm38) missense probably benign 0.02
IGL03180:Grip2 APN 6 91,785,761 (GRCm38) splice site probably benign
R0265:Grip2 UTSW 6 91,773,792 (GRCm38) critical splice donor site probably null
R0448:Grip2 UTSW 6 91,779,213 (GRCm38) missense probably damaging 1.00
R0597:Grip2 UTSW 6 91,796,197 (GRCm38) intron probably benign
R1405:Grip2 UTSW 6 91,788,152 (GRCm38) splice site probably null
R1405:Grip2 UTSW 6 91,788,152 (GRCm38) splice site probably null
R1466:Grip2 UTSW 6 91,788,443 (GRCm38) missense probably damaging 0.98
R1466:Grip2 UTSW 6 91,788,443 (GRCm38) missense probably damaging 0.98
R1664:Grip2 UTSW 6 91,765,252 (GRCm38) missense probably damaging 1.00
R1703:Grip2 UTSW 6 91,777,398 (GRCm38) missense probably damaging 1.00
R1793:Grip2 UTSW 6 91,783,642 (GRCm38) missense probably benign 0.03
R1951:Grip2 UTSW 6 91,783,848 (GRCm38) missense probably damaging 1.00
R2001:Grip2 UTSW 6 91,779,850 (GRCm38) missense probably benign 0.00
R4730:Grip2 UTSW 6 91,785,712 (GRCm38) makesense probably null
R4754:Grip2 UTSW 6 91,779,192 (GRCm38) missense probably damaging 0.97
R4754:Grip2 UTSW 6 91,779,182 (GRCm38) missense probably damaging 1.00
R4773:Grip2 UTSW 6 91,782,432 (GRCm38) missense possibly damaging 0.80
R5135:Grip2 UTSW 6 91,773,916 (GRCm38) missense possibly damaging 0.89
R5213:Grip2 UTSW 6 91,779,831 (GRCm38) missense probably benign 0.04
R5972:Grip2 UTSW 6 91,807,281 (GRCm38) missense probably benign 0.01
R6176:Grip2 UTSW 6 91,779,851 (GRCm38) missense probably benign 0.00
R6188:Grip2 UTSW 6 91,763,533 (GRCm38) missense probably damaging 1.00
R6289:Grip2 UTSW 6 91,778,871 (GRCm38) missense probably benign 0.02
R6345:Grip2 UTSW 6 91,765,388 (GRCm38) missense possibly damaging 0.91
R6348:Grip2 UTSW 6 91,780,438 (GRCm38) missense probably damaging 0.99
R6394:Grip2 UTSW 6 91,787,201 (GRCm38) missense probably damaging 1.00
R6658:Grip2 UTSW 6 91,786,491 (GRCm38) missense probably damaging 1.00
R7065:Grip2 UTSW 6 91,783,569 (GRCm38) critical splice donor site probably null
R7074:Grip2 UTSW 6 91,784,708 (GRCm38) missense probably benign 0.24
R7308:Grip2 UTSW 6 91,778,688 (GRCm38) missense possibly damaging 0.74
R7617:Grip2 UTSW 6 91,765,050 (GRCm38) splice site probably null
R7970:Grip2 UTSW 6 91,786,532 (GRCm38) missense probably benign 0.07
R8221:Grip2 UTSW 6 91,785,684 (GRCm38) missense possibly damaging 0.90
R8549:Grip2 UTSW 6 91,773,788 (GRCm38) splice site probably null
R8838:Grip2 UTSW 6 91,785,740 (GRCm38) utr 3 prime probably benign
R8962:Grip2 UTSW 6 91,777,410 (GRCm38) missense probably damaging 1.00
R9430:Grip2 UTSW 6 91,807,284 (GRCm38) missense probably benign 0.05
R9699:Grip2 UTSW 6 91,765,337 (GRCm38) missense probably benign
R9732:Grip2 UTSW 6 91,784,705 (GRCm38) missense probably damaging 0.99
RF003:Grip2 UTSW 6 91,783,593 (GRCm38) missense probably benign 0.02
Z1176:Grip2 UTSW 6 91,763,510 (GRCm38) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TTCTGCCACTTTATGCTGGG -3'
(R):5'- AGATTGGCTGAGAAGCTGC -3'

Sequencing Primer
(F):5'- GTGGCATCACCCTCCAC -3'
(R):5'- TGAGAAGCTGCCCACATG -3'
Posted On 2019-10-24