Incidental Mutation 'R2261:Grip1'
ID 243812
Institutional Source Beutler Lab
Gene Symbol Grip1
Ensembl Gene ENSMUSG00000034813
Gene Name glutamate receptor interacting protein 1
Synonyms 4931400F03Rik, eb
MMRRC Submission 040261-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2261 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 119289810-119923172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119821489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 385 (V385M)
Ref Sequence ENSEMBL: ENSMUSP00000118073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041962] [ENSMUST00000077871] [ENSMUST00000105262] [ENSMUST00000138410] [ENSMUST00000144825] [ENSMUST00000147356] [ENSMUST00000144959] [ENSMUST00000147454] [ENSMUST00000148954]
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: 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 noncoding transcript
Transcript: ENSMUST00000127787
Predicted Effect probably benign
Transcript: ENSMUST00000138410
AA Change: V385M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813
AA Change: V385M

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 benign
Transcript: ENSMUST00000147356
AA Change: V386M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: V386M

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 benign
Transcript: ENSMUST00000144959
AA Change: V385M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: V385M

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 benign
Transcript: ENSMUST00000147454
AA Change: V385M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813
AA Change: V385M

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 noncoding transcript
Transcript: ENSMUST00000147598
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,242,288 (GRCm39) M1384L probably benign Het
Ahdc1 A G 4: 132,790,474 (GRCm39) T572A unknown Het
Arhgap31 T A 16: 38,429,639 (GRCm39) Q412L probably damaging Het
Arsi T C 18: 61,049,737 (GRCm39) Y207H probably damaging Het
Bco1 T C 8: 117,859,764 (GRCm39) L489S probably damaging Het
Cacna1g T A 11: 94,347,961 (GRCm39) H709L probably benign Het
Cacna1h T C 17: 25,652,139 (GRCm39) T2A possibly damaging Het
Casz1 G T 4: 149,013,556 (GRCm39) R40L probably damaging Het
Cdh23 A G 10: 60,152,907 (GRCm39) V2372A probably damaging Het
Cdk17 T A 10: 93,047,820 (GRCm39) S56T possibly damaging Het
Ces2h T A 8: 105,743,191 (GRCm39) M142K probably damaging Het
Cfap69 C A 5: 5,646,018 (GRCm39) V561F probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dnah11 T A 12: 117,843,760 (GRCm39) M4362L probably benign Het
Dnah11 T C 12: 117,930,374 (GRCm39) T3324A probably damaging Het
Dnajc3 A G 14: 119,198,232 (GRCm39) Q118R probably damaging Het
Dok4 A T 8: 95,593,140 (GRCm39) C182S probably damaging Het
Fam184a A G 10: 53,523,666 (GRCm39) probably null Het
Fanca A G 8: 124,016,098 (GRCm39) probably null Het
Flt3 G A 5: 147,284,873 (GRCm39) P748L probably benign Het
Gbp2b G A 3: 142,312,496 (GRCm39) S293N probably benign Het
Gbp8 T C 5: 105,163,999 (GRCm39) Q433R possibly damaging Het
Gm12874 G A 4: 122,487,533 (GRCm39) noncoding transcript Het
Golgb1 T A 16: 36,713,722 (GRCm39) F234L probably damaging Het
Gpr65 A T 12: 98,241,494 (GRCm39) N49I probably damaging Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Mast4 A G 13: 102,934,715 (GRCm39) probably benign Het
Mia3 A G 1: 183,115,647 (GRCm39) Y295H probably benign Het
Morc3 T A 16: 93,650,109 (GRCm39) probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Nell1 C T 7: 50,210,569 (GRCm39) T494I possibly damaging Het
Npy2r A G 3: 82,448,346 (GRCm39) V30A possibly damaging Het
Nsd2 A T 5: 34,042,871 (GRCm39) Q1045L probably damaging Het
Or51t4 T C 7: 102,598,464 (GRCm39) F254S probably damaging Het
Or5d40 T A 2: 88,015,965 (GRCm39) I248N probably damaging Het
Otub1 T A 19: 7,176,861 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,710 (GRCm39) L431H probably benign Het
Pdgfra T C 5: 75,346,184 (GRCm39) V778A probably benign Het
Plekhm2 C T 4: 141,370,043 (GRCm39) E29K probably damaging Het
Ralgapa2 T C 2: 146,184,603 (GRCm39) N1468S probably damaging Het
Rnf111 T C 9: 70,383,673 (GRCm39) S87G probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Saxo1 C T 4: 86,397,212 (GRCm39) D109N probably damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc20a1 A G 2: 129,048,394 (GRCm39) R260G possibly damaging Het
Slk T C 19: 47,625,791 (GRCm39) I1090T probably damaging Het
Spr-ps1 G T 6: 85,132,945 (GRCm39) noncoding transcript Het
Ssh1 T C 5: 114,080,764 (GRCm39) S867G possibly damaging Het
St18 T A 1: 6,915,796 (GRCm39) C814S probably damaging Het
Stmn2 T C 3: 8,606,955 (GRCm39) F25S probably damaging Het
Taar3 A G 10: 23,826,053 (GRCm39) I200V probably benign Het
Tmem184c A G 8: 78,323,672 (GRCm39) Y397H probably damaging Het
Tmem184c T C 8: 78,323,804 (GRCm39) T353A probably damaging Het
Tuba1c A G 15: 98,935,757 (GRCm39) H406R probably damaging Het
Ubr4 T C 4: 139,140,773 (GRCm39) S1231P probably damaging Het
Ubr5 A T 15: 37,988,528 (GRCm39) D2143E probably damaging Het
Vmn2r6 T C 3: 64,464,090 (GRCm39) N248S probably benign Het
Vmn2r63 G T 7: 42,578,031 (GRCm39) T169N probably benign Het
Zfp37 A T 4: 62,109,873 (GRCm39) L397Q probably damaging Het
Zmym2 G A 14: 57,165,719 (GRCm39) E681K 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
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
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'- GCAAGCAGCTCCCATTTCTG -3'
(R):5'- CAGAAACAACGTGGTGTTAGTAC -3'

Sequencing Primer
(F):5'- AAGCAGCTCCCATTTCTGTTAACG -3'
(R):5'- CGTGGTGTTAGTACAAAGAAAGGCAC -3'
Posted On 2014-10-16