Incidental Mutation 'R5792:Grip1'
ID 447033
Institutional Source Beutler Lab
Gene Symbol Grip1
Ensembl Gene ENSMUSG00000034813
Gene Name glutamate receptor interacting protein 1
Synonyms 4931400F03Rik, eb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5792 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 119289810-119923172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119821385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 350 (I350T)
Ref Sequence ENSEMBL: ENSMUSP00000122323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041962] [ENSMUST00000077871] [ENSMUST00000105262] [ENSMUST00000138410] [ENSMUST00000144959] [ENSMUST00000147356] [ENSMUST00000147454] [ENSMUST00000148954] [ENSMUST00000144825]
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: I350T

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123234
Gene: ENSMUSG00000034813
AA Change: I350T

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: ENSMUST00000144959
AA Change: I350T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122323
Gene: ENSMUSG00000034813
AA Change: I350T

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: ENSMUST00000147356
AA Change: I351T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115478
Gene: ENSMUSG00000034813
AA Change: I351T

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: ENSMUST00000147454
AA Change: I350T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118073
Gene: ENSMUSG00000034813
AA Change: I350T

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
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
Meta Mutation Damage Score 0.0903 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (56/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,945 (GRCm39) I296F possibly damaging Het
Adamts19 C T 18: 58,970,584 (GRCm39) T56M possibly damaging Het
Axdnd1 T G 1: 156,169,459 (GRCm39) E802D probably damaging Het
Birc6 T C 17: 74,938,048 (GRCm39) V2630A probably benign Het
Capn5 A T 7: 97,780,402 (GRCm39) F323I probably benign Het
Ccn1 T C 3: 145,354,413 (GRCm39) D166G probably benign Het
Cdc25b A G 2: 131,033,679 (GRCm39) E206G probably damaging Het
Cmah T G 13: 24,640,898 (GRCm39) N382K probably benign Het
Col11a1 A T 3: 113,925,242 (GRCm39) D25V probably damaging Het
Cyp2d41-ps G T 15: 82,663,421 (GRCm39) noncoding transcript Het
Cyp3a59 A G 5: 146,036,661 (GRCm39) K288E possibly damaging Het
Dclre1a A C 19: 56,518,022 (GRCm39) I1019S probably damaging Het
Fat2 G T 11: 55,153,151 (GRCm39) A3687D possibly damaging Het
Flg2 T A 3: 93,110,804 (GRCm39) V944E unknown Het
Galntl5 T C 5: 25,403,461 (GRCm39) V177A possibly damaging Het
Gm12695 T C 4: 96,616,520 (GRCm39) T438A probably benign Het
Gm14295 A T 2: 176,502,807 (GRCm39) N766Y probably benign Het
Gm15433 T A 1: 84,941,833 (GRCm39) noncoding transcript Het
Gm2431 C T 7: 141,812,069 (GRCm39) G8E unknown Het
Gm5435 T A 12: 82,542,200 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Guf1 T A 5: 69,717,829 (GRCm39) F196I probably damaging Het
Kcng4 G T 8: 120,353,018 (GRCm39) D297E probably damaging Het
Khdrbs2 G A 1: 32,511,773 (GRCm39) R246Q probably damaging Het
Layn T C 9: 50,979,461 (GRCm39) E148G probably damaging Het
Lrig3 T A 10: 125,845,788 (GRCm39) V739E probably damaging Het
Lyg1 A G 1: 37,986,348 (GRCm39) W129R probably benign Het
Nup210l C T 3: 90,107,164 (GRCm39) T1567I probably damaging Het
Nus1 T A 10: 52,305,352 (GRCm39) L12* probably null Het
Odad2 T C 18: 7,217,965 (GRCm39) N583S probably benign Het
Or1n2 A G 2: 36,797,113 (GRCm39) I52V probably benign Het
Or6a2 A T 7: 106,600,650 (GRCm39) V139D possibly damaging Het
Otop1 A G 5: 38,455,260 (GRCm39) N218S probably benign Het
Pcif1 T A 2: 164,727,299 (GRCm39) N90K probably damaging Het
Phf2 T C 13: 48,973,518 (GRCm39) probably null Het
Piezo2 T A 18: 63,279,927 (GRCm39) I215F probably damaging Het
Pitpnm2 G T 5: 124,268,384 (GRCm39) C553* probably null Het
Prdm1 A G 10: 44,326,224 (GRCm39) V115A probably damaging Het
Prkdc A G 16: 15,634,616 (GRCm39) D3587G probably damaging Het
Sez6l A T 5: 112,569,890 (GRCm39) Y883* probably null Het
Sh3rf2 A C 18: 42,244,203 (GRCm39) H223P probably damaging Het
Slco1a5 C T 6: 142,187,839 (GRCm39) C500Y probably damaging Het
Slf1 T A 13: 77,214,856 (GRCm39) H610L probably benign Het
Syn3 T C 10: 86,130,492 (GRCm39) *244W probably null Het
Sytl2 A T 7: 90,024,897 (GRCm39) D295V probably damaging Het
Tnfrsf1a T A 6: 125,335,040 (GRCm39) C44S probably damaging Het
Ttc6 T G 12: 57,719,990 (GRCm39) L854V possibly damaging Het
Ttn T C 2: 76,596,602 (GRCm39) I18358V probably benign Het
Vmn2r108 A G 17: 20,683,398 (GRCm39) V602A probably damaging Het
Zap70 A G 1: 36,818,090 (GRCm39) probably benign Het
Zfhx2 T C 14: 55,304,303 (GRCm39) E1227G possibly damaging Het
Znhit3 G A 11: 84,806,910 (GRCm39) probably null Het
Zpbp2 A G 11: 98,442,236 (GRCm39) 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
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'- CCCATGAAACCAGAGATGTAGTG -3'

Sequencing Primer
(F):5'- AAGCAGCTCCCATTTCTGTTAACG -3'
(R):5'- TGAAACCAGAGATGTAGTGTGTTAG -3'
Posted On 2016-12-15