Incidental Mutation 'R6167:Grip1'
ID 490199
Institutional Source Beutler Lab
Gene Symbol Grip1
Ensembl Gene ENSMUSG00000034813
Gene Name glutamate receptor interacting protein 1
Synonyms 4931400F03Rik, eb
MMRRC Submission 044313-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6167 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 119289810-119923172 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 119733702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041962] [ENSMUST00000077871] [ENSMUST00000105262] [ENSMUST00000138410] [ENSMUST00000144825] [ENSMUST00000144959] [ENSMUST00000147356] [ENSMUST00000147454] [ENSMUST00000148954]
AlphaFold Q925T6
Predicted Effect probably null
Transcript: ENSMUST00000041962
SMART Domains Protein: ENSMUSP00000042436
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 63 137 4.86e-13 SMART
PDZ 161 239 6.4e-22 SMART
PDZ 262 337 1.97e-13 SMART
low complexity region 354 367 N/A INTRINSIC
low complexity region 388 405 N/A INTRINSIC
low complexity region 413 424 N/A INTRINSIC
PDZ 429 509 6.36e-17 SMART
PDZ 530 606 1.11e-16 SMART
PDZ 629 703 1.73e-18 SMART
PDZ 947 1019 2.79e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077871
SMART Domains Protein: ENSMUSP00000077033
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 36 110 4.86e-13 SMART
PDZ 134 212 6.4e-22 SMART
PDZ 235 310 1.97e-13 SMART
low complexity region 327 340 N/A INTRINSIC
low complexity region 361 378 N/A INTRINSIC
low complexity region 386 397 N/A INTRINSIC
PDZ 402 482 6.36e-17 SMART
PDZ 503 579 1.11e-16 SMART
PDZ 602 676 1.73e-18 SMART
PDZ 920 992 2.79e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105262
SMART Domains Protein: ENSMUSP00000100897
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 62 136 4.86e-13 SMART
PDZ 160 238 6.4e-22 SMART
PDZ 261 336 1.97e-13 SMART
low complexity region 353 366 N/A INTRINSIC
low complexity region 387 404 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
PDZ 428 508 6.36e-17 SMART
PDZ 529 605 1.11e-16 SMART
PDZ 628 702 1.73e-18 SMART
PDZ 946 1018 2.79e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000138410
SMART Domains Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 62 136 4.86e-13 SMART
PDZ 160 238 6.4e-22 SMART
PDZ 261 336 1.97e-13 SMART
low complexity region 393 421 N/A INTRINSIC
low complexity region 439 456 N/A INTRINSIC
low complexity region 464 475 N/A INTRINSIC
PDZ 480 560 6.36e-17 SMART
PDZ 581 657 1.11e-16 SMART
PDZ 680 754 1.73e-18 SMART
PDZ 1013 1085 2.79e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139352
Predicted Effect probably benign
Transcript: ENSMUST00000144825
SMART Domains Protein: ENSMUSP00000121670
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 35 109 4.86e-13 SMART
PDZ 133 211 6.4e-22 SMART
PDZ 234 309 1.97e-13 SMART
low complexity region 326 339 N/A INTRINSIC
low complexity region 360 377 N/A INTRINSIC
low complexity region 385 396 N/A INTRINSIC
PDZ 401 481 6.36e-17 SMART
PDZ 502 578 1.11e-16 SMART
PDZ 601 675 1.73e-18 SMART
PDZ 919 991 2.79e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144959
SMART Domains Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 62 136 4.86e-13 SMART
PDZ 160 238 6.4e-22 SMART
PDZ 261 336 1.97e-13 SMART
low complexity region 393 421 N/A INTRINSIC
low complexity region 439 456 N/A INTRINSIC
low complexity region 464 475 N/A INTRINSIC
PDZ 480 560 6.36e-17 SMART
PDZ 581 657 1.11e-16 SMART
PDZ 680 754 1.73e-18 SMART
PDZ 998 1070 2.79e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000147356
SMART Domains Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 63 137 4.86e-13 SMART
PDZ 161 239 6.4e-22 SMART
PDZ 262 337 1.97e-13 SMART
low complexity region 394 422 N/A INTRINSIC
low complexity region 440 457 N/A INTRINSIC
low complexity region 465 476 N/A INTRINSIC
PDZ 481 561 6.36e-17 SMART
PDZ 582 658 1.11e-16 SMART
PDZ 681 755 1.73e-18 SMART
PDZ 999 1071 2.79e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000147454
SMART Domains Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 62 136 4.86e-13 SMART
PDZ 160 238 6.4e-22 SMART
PDZ 261 336 1.97e-13 SMART
low complexity region 393 421 N/A INTRINSIC
low complexity region 439 456 N/A INTRINSIC
low complexity region 464 475 N/A INTRINSIC
PDZ 480 560 6.36e-17 SMART
PDZ 581 657 1.11e-16 SMART
PDZ 680 754 1.73e-18 SMART
PDZ 998 1070 2.79e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000148954
SMART Domains Protein: ENSMUSP00000118397
Gene: ENSMUSG00000034813

DomainStartEndE-ValueType
PDZ 62 136 4.86e-13 SMART
PDZ 160 238 6.4e-22 SMART
PDZ 261 336 1.97e-13 SMART
low complexity region 353 366 N/A INTRINSIC
low complexity region 387 404 N/A INTRINSIC
low complexity region 412 423 N/A INTRINSIC
PDZ 428 508 6.36e-17 SMART
PDZ 529 605 1.11e-16 SMART
PDZ 628 702 1.73e-18 SMART
PDZ 961 1033 2.79e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147598
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: This gene encodes a protein containing multiple PDZ (post synaptic density protein, Drosophila disc large tumor suppressor, and zonula occludens-1 protein) domains. The encoded protein acts as a mediator between cytoskeletal and membrane proteins, particularly in neuronal cells, and facilitates complex formation at the cell membrane. Mutation of this gene can cause embryonic lethality resulting from defects of the dermo-epidermal junction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous ablation of gene function results in embryonic lethality and blistering skin lesions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,182,931 (GRCm39) E1042V probably benign Het
Ahnak2 T C 12: 112,747,750 (GRCm39) E1035G probably benign Het
Aip T G 19: 4,165,188 (GRCm39) D227A probably benign Het
Ankrd13d T C 19: 4,323,081 (GRCm39) H283R probably damaging Het
Aox4 C T 1: 58,303,094 (GRCm39) T1175I probably damaging Het
Atn1 T C 6: 124,723,700 (GRCm39) probably benign Het
Camkk2 A G 5: 122,902,187 (GRCm39) S41P probably damaging Het
Ceacam16 G A 7: 19,595,182 (GRCm39) probably benign Het
Dcaf15 T C 8: 84,824,626 (GRCm39) N524D possibly damaging Het
Dcaf7 A T 11: 105,928,077 (GRCm39) Y43F probably damaging Het
Epha3 T C 16: 63,433,287 (GRCm39) I453V probably benign Het
Etv1 A T 12: 38,915,640 (GRCm39) T413S possibly damaging Het
Evx2 A C 2: 74,489,606 (GRCm39) L53R probably damaging Het
Fam168b G A 1: 34,858,684 (GRCm39) A166V probably damaging Het
Fancm A T 12: 65,141,669 (GRCm39) Y430F probably benign Het
Fyb2 A G 4: 104,802,661 (GRCm39) T188A possibly damaging Het
Gabbr1 T C 17: 37,374,271 (GRCm39) I538T probably damaging Het
Glyctk T A 9: 106,033,691 (GRCm39) T208S possibly damaging Het
Golga7 T C 8: 23,735,904 (GRCm39) D114G probably damaging Het
Gtf2f1 G T 17: 57,311,161 (GRCm39) S351R probably damaging Het
Hook2 T C 8: 85,721,642 (GRCm39) L300P probably damaging Het
Hsf4 A G 8: 105,997,481 (GRCm39) S45G probably damaging Het
Iars1 T A 13: 49,876,190 (GRCm39) M825K probably damaging Het
Kcnj2 A G 11: 110,963,315 (GRCm39) I236V probably benign Het
Large2 G A 2: 92,197,433 (GRCm39) T354I probably benign Het
Mak C A 13: 41,206,828 (GRCm39) V101F probably benign Het
Mylk2 A G 2: 152,757,673 (GRCm39) probably null Het
Myo18b A T 5: 113,020,373 (GRCm39) probably null Het
Neb T A 2: 52,037,249 (GRCm39) H2955L probably benign Het
Neurl1a G C 19: 47,228,367 (GRCm39) G71A probably damaging Het
Ogfrl1 A T 1: 23,415,309 (GRCm39) L142Q probably damaging Het
Or11g27 C A 14: 50,771,612 (GRCm39) H248N probably damaging Het
Or1e27-ps1 A G 11: 73,556,160 (GRCm39) T242A probably damaging Het
P3h4 C A 11: 100,302,671 (GRCm39) A322S probably damaging Het
Piwil2 A C 14: 70,660,342 (GRCm39) probably null Het
Pkd2l2 A G 18: 34,561,297 (GRCm39) D435G probably damaging Het
Plekha6 A G 1: 133,207,145 (GRCm39) N567S probably null Het
Prss54 G A 8: 96,286,173 (GRCm39) P300L possibly damaging Het
Pxdn G A 12: 30,024,000 (GRCm39) R67Q probably damaging Het
Rapgef3 C A 15: 97,665,292 (GRCm39) probably benign Het
Sec24b C T 3: 129,782,550 (GRCm39) G1147S possibly damaging Het
Sh2b3 A T 5: 121,966,418 (GRCm39) probably null Het
Sh3glb1 A T 3: 144,397,664 (GRCm39) D358E probably damaging Het
Shmt2 C T 10: 127,353,731 (GRCm39) R478H probably benign Het
Slc1a6 A G 10: 78,637,671 (GRCm39) E399G probably benign Het
Slc22a23 T A 13: 34,528,542 (GRCm39) Y80F probably damaging Het
Slc25a19 A G 11: 115,506,377 (GRCm39) V272A probably benign Het
Stk32a A T 18: 43,446,474 (GRCm39) D308V probably damaging Het
Tenm3 T C 8: 48,707,657 (GRCm39) I1698V possibly damaging Het
Thoc5 G A 11: 4,865,497 (GRCm39) V359M probably benign Het
Tmpo C T 10: 90,998,800 (GRCm39) R329H probably benign Het
Trim8 T C 19: 46,503,626 (GRCm39) S393P probably benign Het
Vill A T 9: 118,895,932 (GRCm39) Y103F probably damaging Het
Zfp948 T G 17: 21,807,911 (GRCm39) F368V probably benign Het
Zpld1 C T 16: 55,053,962 (GRCm39) E277K probably damaging Het
Other mutations in Grip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Grip1 APN 10 119,767,207 (GRCm39) nonsense probably null
IGL01374:Grip1 APN 10 119,885,273 (GRCm39) missense probably benign 0.03
IGL01592:Grip1 APN 10 119,765,908 (GRCm39) missense probably damaging 1.00
IGL02207:Grip1 APN 10 119,911,214 (GRCm39) missense probably damaging 1.00
IGL02222:Grip1 APN 10 119,835,714 (GRCm39) missense probably damaging 1.00
IGL02225:Grip1 APN 10 119,885,358 (GRCm39) missense probably damaging 1.00
IGL02447:Grip1 APN 10 119,855,976 (GRCm39) missense probably damaging 1.00
IGL02492:Grip1 APN 10 119,765,945 (GRCm39) splice site probably benign
IGL02522:Grip1 APN 10 119,767,154 (GRCm39) missense probably damaging 1.00
IGL02574:Grip1 APN 10 119,778,818 (GRCm39) missense probably damaging 1.00
IGL02718:Grip1 APN 10 119,911,420 (GRCm39) makesense probably null
IGL02751:Grip1 APN 10 119,814,482 (GRCm39) missense probably benign 0.08
IGL03221:Grip1 APN 10 119,822,299 (GRCm39) missense probably benign 0.00
IGL03377:Grip1 APN 10 119,890,937 (GRCm39) missense probably damaging 0.98
PIT4403001:Grip1 UTSW 10 119,765,833 (GRCm39) missense probably damaging 1.00
R0304:Grip1 UTSW 10 119,911,376 (GRCm39) missense probably benign 0.31
R0681:Grip1 UTSW 10 119,846,135 (GRCm39) missense probably damaging 1.00
R0760:Grip1 UTSW 10 119,853,983 (GRCm39) missense probably damaging 0.96
R1457:Grip1 UTSW 10 119,822,255 (GRCm39) missense possibly damaging 0.73
R1506:Grip1 UTSW 10 119,814,356 (GRCm39) missense probably damaging 1.00
R1541:Grip1 UTSW 10 119,836,448 (GRCm39) missense probably damaging 0.99
R1553:Grip1 UTSW 10 119,890,756 (GRCm39) missense probably damaging 1.00
R1709:Grip1 UTSW 10 119,733,620 (GRCm39) missense probably damaging 0.98
R2055:Grip1 UTSW 10 119,885,416 (GRCm39) splice site probably benign
R2059:Grip1 UTSW 10 119,874,603 (GRCm39) missense possibly damaging 0.80
R2261:Grip1 UTSW 10 119,821,489 (GRCm39) missense probably benign 0.00
R2475:Grip1 UTSW 10 119,814,401 (GRCm39) missense probably benign 0.01
R3777:Grip1 UTSW 10 119,821,535 (GRCm39) critical splice donor site probably null
R3849:Grip1 UTSW 10 119,765,863 (GRCm39) missense probably damaging 1.00
R3956:Grip1 UTSW 10 119,765,931 (GRCm39) missense probably damaging 1.00
R4643:Grip1 UTSW 10 119,856,006 (GRCm39) missense probably damaging 1.00
R4693:Grip1 UTSW 10 119,836,459 (GRCm39) missense probably benign 0.10
R4724:Grip1 UTSW 10 119,874,588 (GRCm39) missense probably benign 0.02
R4843:Grip1 UTSW 10 119,765,920 (GRCm39) missense probably damaging 1.00
R4884:Grip1 UTSW 10 119,911,211 (GRCm39) missense probably damaging 1.00
R4912:Grip1 UTSW 10 119,767,153 (GRCm39) missense probably damaging 1.00
R5185:Grip1 UTSW 10 119,767,164 (GRCm39) missense probably benign 0.37
R5291:Grip1 UTSW 10 119,922,874 (GRCm39) missense probably benign 0.04
R5293:Grip1 UTSW 10 119,733,640 (GRCm39) missense probably damaging 0.99
R5296:Grip1 UTSW 10 119,765,833 (GRCm39) missense probably damaging 1.00
R5302:Grip1 UTSW 10 119,855,982 (GRCm39) missense probably damaging 1.00
R5541:Grip1 UTSW 10 119,908,623 (GRCm39) missense probably damaging 1.00
R5792:Grip1 UTSW 10 119,821,385 (GRCm39) missense probably benign 0.07
R5861:Grip1 UTSW 10 119,765,875 (GRCm39) missense probably damaging 1.00
R5905:Grip1 UTSW 10 119,821,397 (GRCm39) missense probably benign 0.02
R5949:Grip1 UTSW 10 119,886,147 (GRCm39) missense probably benign 0.00
R6112:Grip1 UTSW 10 119,829,137 (GRCm39) missense probably benign 0.00
R6166:Grip1 UTSW 10 119,908,623 (GRCm39) missense probably damaging 1.00
R6193:Grip1 UTSW 10 119,874,219 (GRCm39) missense probably damaging 1.00
R6218:Grip1 UTSW 10 119,822,251 (GRCm39) missense possibly damaging 0.95
R6267:Grip1 UTSW 10 119,911,369 (GRCm39) nonsense probably null
R6296:Grip1 UTSW 10 119,911,369 (GRCm39) nonsense probably null
R6490:Grip1 UTSW 10 119,822,329 (GRCm39) missense possibly damaging 0.82
R6543:Grip1 UTSW 10 119,821,499 (GRCm39) missense probably benign 0.00
R6558:Grip1 UTSW 10 119,290,288 (GRCm39) missense probably benign 0.00
R6995:Grip1 UTSW 10 119,822,375 (GRCm39) missense probably damaging 0.99
R7122:Grip1 UTSW 10 119,871,279 (GRCm39) missense possibly damaging 0.48
R7157:Grip1 UTSW 10 119,781,061 (GRCm39) missense probably damaging 1.00
R7410:Grip1 UTSW 10 119,855,925 (GRCm39) missense probably benign 0.01
R7447:Grip1 UTSW 10 119,922,871 (GRCm39) missense probably benign 0.01
R7539:Grip1 UTSW 10 119,890,776 (GRCm39) missense probably benign 0.17
R7586:Grip1 UTSW 10 119,913,043 (GRCm39) splice site probably null
R7768:Grip1 UTSW 10 119,874,302 (GRCm39) missense probably damaging 0.98
R7831:Grip1 UTSW 10 119,854,011 (GRCm39) missense probably damaging 1.00
R7896:Grip1 UTSW 10 119,814,450 (GRCm39) missense possibly damaging 0.53
R8103:Grip1 UTSW 10 119,814,440 (GRCm39) missense probably benign 0.00
R8254:Grip1 UTSW 10 119,890,810 (GRCm39) nonsense probably null
R8688:Grip1 UTSW 10 119,835,809 (GRCm39) missense probably benign 0.12
R8823:Grip1 UTSW 10 119,811,856 (GRCm39) missense
R8837:Grip1 UTSW 10 119,765,940 (GRCm39) missense probably damaging 1.00
R8885:Grip1 UTSW 10 119,290,192 (GRCm39) start gained probably benign
R8951:Grip1 UTSW 10 119,874,509 (GRCm39) missense possibly damaging 0.85
R9042:Grip1 UTSW 10 119,836,438 (GRCm39) missense probably benign 0.14
R9045:Grip1 UTSW 10 119,871,356 (GRCm39) missense probably damaging 0.97
R9237:Grip1 UTSW 10 119,911,310 (GRCm39) missense probably benign 0.07
R9254:Grip1 UTSW 10 119,780,961 (GRCm39) missense probably damaging 1.00
R9259:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9260:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9307:Grip1 UTSW 10 119,821,454 (GRCm39) missense probably benign 0.01
R9379:Grip1 UTSW 10 119,780,961 (GRCm39) missense probably damaging 1.00
R9546:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9547:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9548:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9549:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9583:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9584:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9610:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9611:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9612:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9684:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9687:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9690:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9691:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9742:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9744:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9752:Grip1 UTSW 10 119,871,256 (GRCm39) missense possibly damaging 0.46
R9758:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
R9762:Grip1 UTSW 10 119,811,906 (GRCm39) missense possibly damaging 0.92
R9764:Grip1 UTSW 10 119,874,569 (GRCm39) missense possibly damaging 0.63
RF011:Grip1 UTSW 10 119,767,220 (GRCm39) missense probably null 0.97
Z1176:Grip1 UTSW 10 119,655,388 (GRCm39) unclassified probably benign
Z1177:Grip1 UTSW 10 119,822,349 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGACTCGGGTCATCAACTCTTC -3'
(R):5'- GATGAATCCTCGTAGGTCGG -3'

Sequencing Primer
(F):5'- CTTATGACCTCTCTCTGGAAGAAGG -3'
(R):5'- AATCCTCGTAGGTCGGCAAGG -3'
Posted On 2017-10-10