Incidental Mutation 'R6176:Grip2'
ID 487760
Institutional Source Beutler Lab
Gene Symbol Grip2
Ensembl Gene ENSMUSG00000030098
Gene Name glutamate receptor interacting protein 2
Synonyms
MMRRC Submission 044318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6176 (G1)
Quality Score 91.0077
Status Validated
Chromosome 6
Chromosomal Location 91738490-91804231 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91756832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 540 (V540I)
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: V499I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: V499I

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: ENSMUST00000161545
SMART Domains Protein: ENSMUSP00000125538
Gene: ENSMUSG00000030098

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
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 benign
Transcript: ENSMUST00000162293
AA Change: V488I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: V488I

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: V540I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: V540I

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (60/62)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,295,969 (GRCm39) Q966R probably benign Het
Amn A G 12: 111,240,590 (GRCm39) D74G possibly damaging Het
Ank2 T A 3: 126,739,120 (GRCm39) T2255S probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Apaf1 A G 10: 90,895,433 (GRCm39) probably null Het
Asl T A 5: 130,047,720 (GRCm39) H82L probably benign Het
Atrn A G 2: 130,788,011 (GRCm39) E271G probably benign Het
B4galnt3 A G 6: 120,201,125 (GRCm39) F184S probably damaging Het
C1s2 T A 6: 124,602,768 (GRCm39) H481L probably damaging Het
Cav2 A G 6: 17,286,918 (GRCm39) D58G possibly damaging Het
Cc2d2a A T 5: 43,866,455 (GRCm39) H755L probably benign Het
Ccdc65 A G 15: 98,606,433 (GRCm39) probably null Het
Celsr3 A T 9: 108,705,554 (GRCm39) Y679F probably damaging Het
Cep135 A T 5: 76,772,490 (GRCm39) Y625F probably benign Het
Cfhr1 A G 1: 139,478,654 (GRCm39) S58P probably damaging Het
Clip4 T A 17: 72,113,628 (GRCm39) C259* probably null Het
Cyp2j12 T A 4: 96,029,074 (GRCm39) Q69L probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Ecscr CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 18: 35,849,813 (GRCm39) probably benign Het
Efcab3 A T 11: 104,683,383 (GRCm39) I1604F probably benign Het
Fam43b T C 4: 138,122,522 (GRCm39) D266G probably damaging Het
Fbxl13 T A 5: 21,705,498 (GRCm39) I618F possibly damaging Het
Gne C T 4: 44,053,019 (GRCm39) probably benign Het
Gnpat T A 8: 125,605,593 (GRCm39) V321E probably damaging Het
Gpatch8 G A 11: 102,378,350 (GRCm39) A200V unknown Het
Grid1 C A 14: 35,284,504 (GRCm39) A749E probably benign Het
Ice2 C T 9: 69,324,354 (GRCm39) T759M probably damaging Het
Jrk G T 15: 74,578,189 (GRCm39) N365K possibly damaging Het
Kank4 A G 4: 98,653,791 (GRCm39) I879T probably damaging Het
Krtap20-1 T A 16: 88,812,288 (GRCm39) Y24* probably null Het
Lao1 T A 4: 118,819,197 (GRCm39) M1K probably null Het
Mlf1 A G 3: 67,291,927 (GRCm39) R31G probably damaging Het
Nt5c3b T C 11: 100,330,974 (GRCm39) probably benign Het
Nusap1 A G 2: 119,460,902 (GRCm39) R132G probably benign Het
Or11g1 A G 14: 50,651,847 (GRCm39) Y282C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5w20 G A 2: 87,727,280 (GRCm39) V254I probably benign Het
Or8d2b A C 9: 38,788,673 (GRCm39) D67A probably damaging Het
Paqr9 G T 9: 95,442,828 (GRCm39) V273L possibly damaging Het
Pcdha9 A T 18: 37,131,984 (GRCm39) D351V probably benign Het
Pcdhga1 A G 18: 37,797,282 (GRCm39) D762G probably benign Het
Pde3a T A 6: 141,444,615 (GRCm39) L1141Q possibly damaging Het
Pga5 T A 19: 10,649,149 (GRCm39) probably null Het
Phldb3 C A 7: 24,326,127 (GRCm39) R570S probably damaging Het
Slc22a6 A C 19: 8,599,161 (GRCm39) E264A probably damaging Het
Slc49a4 C T 16: 35,525,167 (GRCm39) M426I probably benign Het
Slit1 T C 19: 41,626,034 (GRCm39) K576R probably damaging Het
Sox21 T C 14: 118,473,040 (GRCm39) K3R possibly damaging Het
Stk32c A T 7: 138,700,691 (GRCm39) D297E probably benign Het
Suclg1 T C 6: 73,252,326 (GRCm39) V323A probably damaging Het
Tas1r2 T G 4: 139,396,199 (GRCm39) C513G probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tbc1d31 T C 15: 57,816,192 (GRCm39) V642A probably damaging Het
Tle2 A T 10: 81,423,168 (GRCm39) D486V probably damaging Het
Tmem232 A G 17: 65,792,867 (GRCm39) I110T probably damaging Het
Tmem39b A G 4: 129,586,894 (GRCm39) Y106H probably damaging Het
Trpm4 T G 7: 44,976,100 (GRCm39) N229T probably damaging Het
Tspo A G 15: 83,458,007 (GRCm39) T120A probably benign Het
Ttc28 G A 5: 111,371,851 (GRCm39) A767T probably damaging Het
Usp53 G A 3: 122,727,652 (GRCm39) Q977* probably null Het
Vmn1r215 T A 13: 23,260,528 (GRCm39) D189E probably damaging Het
Vmn2r12 T C 5: 109,233,866 (GRCm39) Y782C probably benign Het
Vmn2r54 A G 7: 12,349,908 (GRCm39) L558P probably damaging Het
Zfp268 T A 4: 145,350,628 (GRCm39) C688* probably null 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 91,756,173 (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
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 PCR Primer
(F):5'- CTGCTGCATGAAATCAATCCAC -3'
(R):5'- TTCAGAGACCAGGAGCTGAG -3'

Sequencing Primer
(F):5'- GCTGCATGAAATCAATCCACTTTAAG -3'
(R):5'- TGAGAGTAAGCCCCCACTTCTC -3'
Posted On 2017-10-10