Incidental Mutation 'R8885:Grip1'
ID 677256
Institutional Source Beutler Lab
Gene Symbol Grip1
Ensembl Gene ENSMUSG00000034813
Gene Name glutamate receptor interacting protein 1
Synonyms 4931400F03Rik, eb
MMRRC Submission 068751-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8885 (G1)
Quality Score 129.008
Status Validated
Chromosome 10
Chromosomal Location 119289810-119923172 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to T at 119290192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041962] [ENSMUST00000077871] [ENSMUST00000147356]
AlphaFold Q925T6
Predicted Effect probably benign
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 benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (104/104)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,471,525 (GRCm39) S977C possibly damaging Het
Abca8a T A 11: 109,960,305 (GRCm39) D646V probably damaging Het
Adss2 T A 1: 177,597,526 (GRCm39) Y378F probably damaging Het
Akap6 C T 12: 53,188,319 (GRCm39) A1911V probably benign Het
Alg2 T C 4: 47,474,159 (GRCm39) Y43C probably benign Het
Alk A C 17: 72,202,758 (GRCm39) V1159G probably damaging Het
Alx3 A T 3: 107,508,010 (GRCm39) Q173L probably damaging Het
Aqp9 A G 9: 71,069,593 (GRCm39) probably benign Het
Atf7ip C A 6: 136,564,141 (GRCm39) L787I probably benign Het
Bbs9 A T 9: 22,590,234 (GRCm39) E657D possibly damaging Het
Bean1 G A 8: 104,908,752 (GRCm39) probably null Het
Cactin G T 10: 81,157,082 (GRCm39) R13L unknown Het
Ccdc178 T C 18: 22,200,721 (GRCm39) E412G probably damaging Het
Ccdc30 A G 4: 119,181,759 (GRCm39) I583T probably damaging Het
Ccl8 T C 11: 82,006,933 (GRCm39) Y49H probably damaging Het
Clptm1 T A 7: 19,372,932 (GRCm39) K199N probably damaging Het
Cnbp G A 6: 87,822,646 (GRCm39) S39L probably benign Het
Cnih3 T A 1: 181,237,437 (GRCm39) probably benign Het
Cnksr3 A T 10: 7,090,201 (GRCm39) probably benign Het
Cntn1 A G 15: 92,159,380 (GRCm39) I512V probably benign Het
Col20a1 A G 2: 180,640,296 (GRCm39) probably benign Het
Col28a1 A T 6: 8,127,360 (GRCm39) probably benign Het
Col6a2 A T 10: 76,450,741 (GRCm39) Y63* probably null Het
Copa T G 1: 171,925,312 (GRCm39) F190V probably damaging Het
Crisp4 A C 1: 18,207,148 (GRCm39) probably benign Het
Cxcl2 C T 5: 91,052,085 (GRCm39) Q64* probably null Het
Cxcr5 T C 9: 44,425,549 (GRCm39) D36G probably benign Het
Cyp20a1 T A 1: 60,411,765 (GRCm39) V271E possibly damaging Het
D430041D05Rik T C 2: 104,071,538 (GRCm39) Y570C probably damaging Het
Ddi1 T G 9: 6,266,198 (GRCm39) D57A probably benign Het
Ddx11 T A 17: 66,450,460 (GRCm39) S492T probably benign Het
Dhx34 C T 7: 15,950,376 (GRCm39) R264H probably damaging Het
Dnah3 T A 7: 119,561,375 (GRCm39) I328F Het
Dnah5 C T 15: 28,327,886 (GRCm39) R2087C probably damaging Het
Dnah8 C G 17: 30,927,286 (GRCm39) S1314W possibly damaging Het
Dock2 T C 11: 34,260,396 (GRCm39) N982D probably benign Het
Dync1h1 A G 12: 110,583,172 (GRCm39) D423G probably damaging Het
Ect2l A C 10: 18,048,583 (GRCm39) L213V probably damaging Het
Fam210a T C 18: 68,409,215 (GRCm39) I32V probably benign Het
Fancg A G 4: 43,007,266 (GRCm39) probably null Het
Fastkd5 T C 2: 130,457,111 (GRCm39) E493G probably benign Het
Fbxo38 T C 18: 62,659,272 (GRCm39) M342V probably damaging Het
Flnc A C 6: 29,455,410 (GRCm39) K2020Q probably damaging Het
Flt4 A G 11: 49,527,160 (GRCm39) probably benign Het
Frmd4b G T 6: 97,389,480 (GRCm39) P129T probably benign Het
Galnt13 C A 2: 54,770,138 (GRCm39) A310E probably benign Het
Gm4884 T A 7: 40,694,108 (GRCm39) Y692* probably null Het
Gm6309 T A 5: 146,105,103 (GRCm39) D270V probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kdf1 G T 4: 133,255,505 (GRCm39) C74F probably damaging Het
Kdm1b T A 13: 47,207,184 (GRCm39) C169* probably null Het
Kmt2c G T 5: 25,520,077 (GRCm39) T2011K probably benign Het
Lama1 G A 17: 68,080,779 (GRCm39) G1269E Het
Lamb3 C T 1: 193,017,182 (GRCm39) A791V probably benign Het
Leng9 G T 7: 4,151,774 (GRCm39) R301S possibly damaging Het
Lgr6 C A 1: 134,915,342 (GRCm39) V746L probably benign Het
Lrp5 T A 19: 3,702,170 (GRCm39) S216C probably damaging Het
Ltn1 T C 16: 87,178,433 (GRCm39) T1599A probably damaging Het
Map2k1 G T 9: 64,094,606 (GRCm39) N345K probably damaging Het
Map4k1 T A 7: 28,688,862 (GRCm39) D304E probably benign Het
Mcpt1 C T 14: 56,256,522 (GRCm39) T86I probably damaging Het
Mcpt9 T C 14: 56,265,153 (GRCm39) K116R probably benign Het
Morc2a G T 11: 3,628,584 (GRCm39) A346S probably damaging Het
Mybpc3 A T 2: 90,954,237 (GRCm39) Q370L probably benign Het
Nars2 T C 7: 96,652,095 (GRCm39) S229P probably damaging Het
Ndufa10 A T 1: 92,397,693 (GRCm39) Y118N probably damaging Het
Nek11 A T 9: 105,172,571 (GRCm39) probably null Het
Notch4 T C 17: 34,803,470 (GRCm39) V1463A possibly damaging Het
Nrcam T C 12: 44,610,908 (GRCm39) I536T probably benign Het
Or6c202 T C 10: 128,996,334 (GRCm39) Y173C probably benign Het
Pbld1 A T 10: 62,912,226 (GRCm39) T285S probably benign Het
Pcdhgb8 A T 18: 37,896,177 (GRCm39) T416S possibly damaging Het
Plekhg6 T C 6: 125,351,523 (GRCm39) D242G probably damaging Het
Pnmt T A 11: 98,278,580 (GRCm39) V182D probably benign Het
Ppp1r13b G T 12: 111,799,871 (GRCm39) N758K probably damaging Het
Prex2 A G 1: 11,240,799 (GRCm39) probably benign Het
Prss3 A T 6: 41,354,512 (GRCm39) L7Q probably damaging Het
Prss43 T A 9: 110,660,046 (GRCm39) L370Q probably damaging Het
Rac1 A T 5: 143,493,885 (GRCm39) V104E probably damaging Het
Rgs9 T C 11: 109,166,449 (GRCm39) Y107C probably damaging Het
Rnase13 C T 14: 52,159,940 (GRCm39) W66* probably null Het
Rrp1b G A 17: 32,270,688 (GRCm39) V216I possibly damaging Het
Serinc1 A G 10: 57,395,864 (GRCm39) S309P probably benign Het
Serpine3 T A 14: 62,902,587 (GRCm39) L66Q probably damaging Het
Smc5 C T 19: 23,191,234 (GRCm39) V924M probably damaging Het
Spmip4 A T 6: 50,551,028 (GRCm39) Y474N possibly damaging Het
Srgap1 A T 10: 121,761,545 (GRCm39) probably benign Het
Stab1 T C 14: 30,883,771 (GRCm39) E262G possibly damaging Het
Ston2 A G 12: 91,606,498 (GRCm39) *896R probably null Het
Syt6 A G 3: 103,532,941 (GRCm39) M442V probably benign Het
Tap1 T C 17: 34,408,536 (GRCm39) probably null Het
Tbx3 A C 5: 119,818,624 (GRCm39) S420R probably benign Het
Tespa1 A T 10: 130,198,316 (GRCm39) Q446L probably benign Het
Tifab T C 13: 56,324,108 (GRCm39) M112V probably benign Het
Trpv5 A T 6: 41,630,192 (GRCm39) S633T possibly damaging Het
Ttn T C 2: 76,684,236 (GRCm39) K838R unknown Het
Ttn A T 2: 76,744,810 (GRCm39) V5413E probably damaging Het
Tub C A 7: 108,628,793 (GRCm39) N415K Het
Vmn2r3 T C 3: 64,182,383 (GRCm39) M439V probably benign Het
Vps13c A G 9: 67,850,736 (GRCm39) D2231G probably benign Het
Wbp1 C T 6: 83,096,913 (GRCm39) C118Y unknown Het
Zdhhc20 C T 14: 58,127,671 (GRCm39) probably benign Het
Zfp217 T A 2: 169,956,391 (GRCm39) N869I probably benign Het
Zfp677 T C 17: 21,618,350 (GRCm39) I469T probably benign Het
Zmym2 T A 14: 57,185,329 (GRCm39) probably benign Het
Zzef1 T G 11: 72,687,402 (GRCm39) S94A probably benign 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
R6167:Grip1 UTSW 10 119,733,702 (GRCm39) critical splice donor site probably null
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
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'- CAGCTCTGCCCGGTTACC -3'
(R):5'- CTCTCGGATTTCGCAAGGTGC -3'

Sequencing Primer
(F):5'- GTCGCCTCAATGTATCG -3'
(R):5'- AGGACAGGTCTCGGGGAGC -3'
Posted On 2021-08-02