Incidental Mutation 'R6192:Patj'
ID 502635
Institutional Source Beutler Lab
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Cipp, Inadl
MMRRC Submission 044332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6192 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 98284022-98607840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98344394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 569 (G569W)
Ref Sequence ENSEMBL: ENSMUSP00000102649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107029] [ENSMUST00000107030] [ENSMUST00000107033] [ENSMUST00000107034]
AlphaFold Q63ZW7
Predicted Effect probably damaging
Transcript: ENSMUST00000041284
AA Change: G573W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: G573W

DomainStartEndE-ValueType
L27 8 68 6.53e-9 SMART
PDZ 143 221 1.78e-20 SMART
PDZ 256 328 1.15e-23 SMART
PDZ 374 453 3.15e-21 SMART
coiled coil region 486 513 N/A INTRINSIC
PDZ 570 641 1.28e-12 SMART
PDZ 696 775 9.5e-16 SMART
low complexity region 980 991 N/A INTRINSIC
low complexity region 1054 1062 N/A INTRINSIC
PDZ 1083 1166 8.65e-19 SMART
PDZ 1253 1328 6.12e-19 SMART
low complexity region 1356 1366 N/A INTRINSIC
low complexity region 1410 1428 N/A INTRINSIC
PDZ 1480 1555 4.36e-24 SMART
PDZ 1577 1650 2.49e-19 SMART
PDZ 1718 1795 2.13e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107029
SMART Domains Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859

DomainStartEndE-ValueType
PDZ 1 68 1e-9 SMART
PDZ 123 202 4.7e-18 SMART
low complexity region 407 418 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
PDZ 510 593 4.3e-21 SMART
PDZ 680 755 2.9e-21 SMART
low complexity region 783 793 N/A INTRINSIC
low complexity region 837 855 N/A INTRINSIC
PDZ 907 982 2.2e-26 SMART
PDZ 1004 1077 1.2e-21 SMART
PDZ 1145 1222 1e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107030
SMART Domains Protein: ENSMUSP00000102645
Gene: ENSMUSG00000061859

DomainStartEndE-ValueType
L27 8 68 6.53e-9 SMART
PDZ 143 221 1.78e-20 SMART
PDZ 256 328 1.15e-23 SMART
PDZ 374 453 3.15e-21 SMART
coiled coil region 486 513 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107033
AA Change: G573W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859
AA Change: G573W

DomainStartEndE-ValueType
L27 8 68 6.53e-9 SMART
PDZ 143 221 1.78e-20 SMART
PDZ 256 328 1.15e-23 SMART
PDZ 374 453 3.15e-21 SMART
coiled coil region 486 513 N/A INTRINSIC
low complexity region 648 659 N/A INTRINSIC
low complexity region 722 730 N/A INTRINSIC
PDZ 751 834 8.65e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107034
AA Change: G569W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: G569W

DomainStartEndE-ValueType
L27 8 68 6.53e-9 SMART
PDZ 143 221 1.78e-20 SMART
PDZ 256 328 1.15e-23 SMART
PDZ 374 453 3.15e-21 SMART
coiled coil region 486 513 N/A INTRINSIC
PDZ 566 637 1.28e-12 SMART
PDZ 692 771 9.5e-16 SMART
low complexity region 976 987 N/A INTRINSIC
low complexity region 1050 1058 N/A INTRINSIC
PDZ 1079 1162 8.65e-19 SMART
PDZ 1249 1324 6.12e-19 SMART
low complexity region 1352 1362 N/A INTRINSIC
low complexity region 1382 1400 N/A INTRINSIC
PDZ 1452 1499 7.78e0 SMART
Predicted Effect unknown
Transcript: ENSMUST00000142103
AA Change: G51W
SMART Domains Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: G51W

DomainStartEndE-ValueType
PDZ 49 120 1.28e-12 SMART
PDZ 175 254 9.5e-16 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: This gene encodes a multivalent PDZ domain protein, which is expressed exclusively in brain and kidney. This protein selectively interacts with inward rectifier K+ (Kir) family members, N-methyl-D-aspartate receptor subunits, neurexins and neuroligins, as well as cell surface molecules enriched in synaptic membranes. Thus, this protein may serve as a scaffold that brings structurally diverse but functionally connected proteins into close proximity at the synapse. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,774,002 (GRCm39) E1137G probably damaging Het
Adcy9 T C 16: 4,105,818 (GRCm39) I1099V probably benign Het
Angptl4 A T 17: 33,996,015 (GRCm39) N320K probably benign Het
Atp6v0a2 G A 5: 124,767,268 (GRCm39) M10I probably benign Het
Bltp1 C T 3: 37,042,318 (GRCm39) T2768I probably benign Het
Cbfa2t3 A G 8: 123,361,135 (GRCm39) S395P probably benign Het
Cenpe C T 3: 134,954,291 (GRCm39) T1716I possibly damaging Het
Chsy1 T C 7: 65,820,625 (GRCm39) Y287H probably benign Het
Col4a4 G T 1: 82,462,151 (GRCm39) P1075T probably damaging Het
Cryab T A 9: 50,665,813 (GRCm39) M68K probably damaging Het
Cybrd1 T A 2: 70,967,858 (GRCm39) L143Q probably null Het
Dcaf7 T C 11: 105,942,584 (GRCm39) V177A probably damaging Het
Dclk2 T C 3: 86,722,457 (GRCm39) Y392C probably damaging Het
Ddx20 T C 3: 105,586,036 (GRCm39) T770A probably benign Het
Dennd1b T A 1: 139,095,456 (GRCm39) D501E probably benign Het
Dgkh A T 14: 78,865,504 (GRCm39) Y26* probably null Het
Dnajc2 A G 5: 21,973,646 (GRCm39) V196A probably damaging Het
Etl4 A G 2: 20,806,362 (GRCm39) K827E probably damaging Het
Fam8a1 C T 13: 46,823,099 (GRCm39) P13L probably damaging Het
Gfra3 T C 18: 34,837,582 (GRCm39) S139G possibly damaging Het
Ggnbp1 G A 17: 27,248,847 (GRCm39) V139I possibly damaging Het
Gja1 T A 10: 56,264,330 (GRCm39) Y230N probably damaging Het
Gldc A G 19: 30,111,172 (GRCm39) S535P probably damaging Het
Gm45871 A G 18: 90,610,357 (GRCm39) T532A probably benign Het
Gm5431 T A 11: 48,785,220 (GRCm39) D107V probably benign Het
Herc2 C T 7: 55,857,510 (GRCm39) T4031M probably damaging Het
Iffo2 G A 4: 139,333,769 (GRCm39) A282T probably damaging Het
Ifi44 T G 3: 151,451,276 (GRCm39) probably null Het
Igkv4-53 C T 6: 69,625,915 (GRCm39) R62H possibly damaging Het
Lrp11 A C 10: 7,474,454 (GRCm39) probably null Het
Lrp4 A G 2: 91,338,833 (GRCm39) T1755A probably benign Het
Mcm3ap A T 10: 76,336,934 (GRCm39) K1316M probably damaging Het
Mctp1 T G 13: 76,971,082 (GRCm39) probably null Het
Mroh5 A T 15: 73,662,630 (GRCm39) I396N probably damaging Het
Mrps5 T A 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Muc16 A T 9: 18,569,985 (GRCm39) S845T unknown Het
Mycbpap A T 11: 94,398,557 (GRCm39) V474E probably damaging Het
Mzt2 G C 16: 15,666,551 (GRCm39) S122W probably benign Het
Neb T C 2: 52,146,802 (GRCm39) I2821V probably benign Het
Ngef A T 1: 87,415,622 (GRCm39) D347E probably damaging Het
Nlrp14 T C 7: 106,781,646 (GRCm39) V281A probably benign Het
Obscn A T 11: 58,888,864 (GRCm39) Y7597N unknown Het
Or4k47 T C 2: 111,451,520 (GRCm39) R300G possibly damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Phf2 T A 13: 48,973,583 (GRCm39) T361S unknown Het
Pik3r6 A G 11: 68,434,455 (GRCm39) E552G probably damaging Het
Pitx2 A G 3: 129,009,521 (GRCm39) T147A probably benign Het
Pkmyt1 G A 17: 23,953,167 (GRCm39) G241D probably damaging Het
Pola2 A T 19: 6,003,802 (GRCm39) V191D possibly damaging Het
Ralgapb T A 2: 158,291,367 (GRCm39) probably null Het
Rapgef4 T C 2: 71,811,661 (GRCm39) S11P probably benign Het
Rnf10 G A 5: 115,395,136 (GRCm39) R151C probably damaging Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sbno2 A T 10: 79,895,850 (GRCm39) L977Q probably damaging Het
Sec14l3 G A 11: 4,025,566 (GRCm39) probably null Het
Serping1 A T 2: 84,600,612 (GRCm39) N243K possibly damaging Het
Slco2b1 T A 7: 99,334,779 (GRCm39) I231F probably damaging Het
Spag8 A G 4: 43,652,458 (GRCm39) F294S probably damaging Het
Speer4f1 G A 5: 17,684,493 (GRCm39) A174T probably damaging Het
Spred3 T C 7: 28,862,402 (GRCm39) D147G probably benign Het
Stard9 A G 2: 120,527,241 (GRCm39) D1166G probably damaging Het
Svep1 G T 4: 58,104,536 (GRCm39) T1229K possibly damaging Het
Tanc1 T A 2: 59,669,305 (GRCm39) probably null Het
Tmem232 T C 17: 65,737,800 (GRCm39) Y420C probably damaging Het
Tubd1 A T 11: 86,448,619 (GRCm39) M311L probably benign Het
Tulp3 G A 6: 128,332,703 (GRCm39) probably null Het
Usp42 T C 5: 143,702,942 (GRCm39) T560A possibly damaging Het
Vmn1r170 A T 7: 23,305,934 (GRCm39) Y112F probably damaging Het
Vmn2r4 A T 3: 64,322,699 (GRCm39) C7S probably benign Het
Wrn A G 8: 33,774,682 (GRCm39) M652T probably benign Het
Wsb1 G A 11: 79,139,336 (GRCm39) P120L possibly damaging Het
Zfp142 T C 1: 74,609,667 (GRCm39) E1376G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Patj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Patj APN 4 98,353,343 (GRCm39) missense probably damaging 1.00
IGL00095:Patj APN 4 98,423,799 (GRCm39) missense possibly damaging 0.78
IGL00517:Patj APN 4 98,329,308 (GRCm39) missense possibly damaging 0.95
IGL00802:Patj APN 4 98,312,643 (GRCm39) missense possibly damaging 0.93
IGL01064:Patj APN 4 98,385,210 (GRCm39) missense possibly damaging 0.95
IGL01110:Patj APN 4 98,301,261 (GRCm39) missense probably damaging 0.99
IGL01407:Patj APN 4 98,301,287 (GRCm39) missense possibly damaging 0.49
IGL01821:Patj APN 4 98,344,448 (GRCm39) missense probably damaging 1.00
IGL02399:Patj APN 4 98,480,173 (GRCm39) missense probably damaging 1.00
IGL02494:Patj APN 4 98,592,224 (GRCm39) splice site probably benign
IGL02803:Patj APN 4 98,314,301 (GRCm39) missense probably damaging 0.99
IGL02931:Patj APN 4 98,299,410 (GRCm39) splice site probably benign
IGL03017:Patj APN 4 98,353,264 (GRCm39) splice site probably benign
IGL03115:Patj APN 4 98,332,040 (GRCm39) missense probably damaging 1.00
IGL03209:Patj APN 4 98,353,377 (GRCm39) missense probably null 1.00
IGL03377:Patj APN 4 98,353,341 (GRCm39) missense probably damaging 1.00
D4186:Patj UTSW 4 98,526,999 (GRCm39) missense probably benign 0.17
PIT4531001:Patj UTSW 4 98,329,327 (GRCm39) missense probably damaging 0.98
R0136:Patj UTSW 4 98,555,885 (GRCm39) missense probably damaging 1.00
R0294:Patj UTSW 4 98,385,285 (GRCm39) missense probably damaging 0.99
R0376:Patj UTSW 4 98,457,224 (GRCm39) missense probably damaging 1.00
R0463:Patj UTSW 4 98,562,545 (GRCm39) missense probably damaging 1.00
R0465:Patj UTSW 4 98,423,744 (GRCm39) splice site probably null
R0466:Patj UTSW 4 98,576,393 (GRCm39) missense probably damaging 1.00
R0544:Patj UTSW 4 98,457,347 (GRCm39) missense probably damaging 1.00
R0624:Patj UTSW 4 98,569,472 (GRCm39) splice site probably benign
R0657:Patj UTSW 4 98,555,885 (GRCm39) missense probably damaging 1.00
R1281:Patj UTSW 4 98,304,932 (GRCm39) missense probably damaging 1.00
R1393:Patj UTSW 4 98,312,648 (GRCm39) missense probably benign 0.01
R1480:Patj UTSW 4 98,357,819 (GRCm39) missense probably damaging 1.00
R1667:Patj UTSW 4 98,301,264 (GRCm39) missense probably damaging 1.00
R1728:Patj UTSW 4 98,320,017 (GRCm39) missense possibly damaging 0.50
R1729:Patj UTSW 4 98,320,017 (GRCm39) missense possibly damaging 0.50
R1797:Patj UTSW 4 98,575,675 (GRCm39) missense probably damaging 1.00
R1818:Patj UTSW 4 98,511,885 (GRCm39) missense possibly damaging 0.85
R1835:Patj UTSW 4 98,379,827 (GRCm39) missense probably benign 0.00
R1880:Patj UTSW 4 98,385,477 (GRCm39) missense probably benign 0.00
R2009:Patj UTSW 4 98,344,406 (GRCm39) missense probably damaging 1.00
R2090:Patj UTSW 4 98,325,560 (GRCm39) unclassified probably benign
R2120:Patj UTSW 4 98,344,462 (GRCm39) missense probably benign 0.01
R2180:Patj UTSW 4 98,411,739 (GRCm39) critical splice donor site probably null
R2655:Patj UTSW 4 98,325,687 (GRCm39) missense possibly damaging 0.64
R3156:Patj UTSW 4 98,562,465 (GRCm39) missense probably damaging 1.00
R3749:Patj UTSW 4 98,357,837 (GRCm39) missense probably damaging 1.00
R3767:Patj UTSW 4 98,569,456 (GRCm39) nonsense probably null
R3913:Patj UTSW 4 98,457,338 (GRCm39) missense probably damaging 0.99
R3917:Patj UTSW 4 98,480,245 (GRCm39) nonsense probably null
R3918:Patj UTSW 4 98,344,455 (GRCm39) missense probably damaging 1.00
R4299:Patj UTSW 4 98,565,558 (GRCm39) missense possibly damaging 0.89
R4355:Patj UTSW 4 98,538,691 (GRCm39) missense possibly damaging 0.87
R4471:Patj UTSW 4 98,423,816 (GRCm39) missense probably damaging 1.00
R4762:Patj UTSW 4 98,293,807 (GRCm39) nonsense probably null
R4877:Patj UTSW 4 98,457,295 (GRCm39) missense possibly damaging 0.94
R4945:Patj UTSW 4 98,383,301 (GRCm39) missense probably damaging 0.97
R5274:Patj UTSW 4 98,407,218 (GRCm39) missense probably damaging 0.99
R5343:Patj UTSW 4 98,564,430 (GRCm39) missense probably damaging 1.00
R5554:Patj UTSW 4 98,342,633 (GRCm39) missense possibly damaging 0.79
R5688:Patj UTSW 4 98,409,047 (GRCm39) nonsense probably null
R5880:Patj UTSW 4 98,299,382 (GRCm39) missense probably damaging 0.96
R5972:Patj UTSW 4 98,457,290 (GRCm39) missense probably damaging 0.98
R6149:Patj UTSW 4 98,312,562 (GRCm39) missense possibly damaging 0.72
R6265:Patj UTSW 4 98,357,804 (GRCm39) missense probably benign 0.08
R6350:Patj UTSW 4 98,293,855 (GRCm39) missense probably benign 0.26
R6363:Patj UTSW 4 98,320,097 (GRCm39) missense probably benign 0.25
R6434:Patj UTSW 4 98,379,866 (GRCm39) missense probably damaging 1.00
R6496:Patj UTSW 4 98,304,989 (GRCm39) missense probably damaging 1.00
R6896:Patj UTSW 4 98,314,287 (GRCm39) missense possibly damaging 0.87
R7039:Patj UTSW 4 98,457,315 (GRCm39) missense probably damaging 0.96
R7040:Patj UTSW 4 98,329,317 (GRCm39) missense probably benign 0.02
R7052:Patj UTSW 4 98,565,497 (GRCm39) missense probably benign 0.03
R7066:Patj UTSW 4 98,301,434 (GRCm39) missense probably benign 0.24
R7236:Patj UTSW 4 98,299,294 (GRCm39) missense probably damaging 1.00
R7242:Patj UTSW 4 98,480,170 (GRCm39) missense probably benign 0.26
R7260:Patj UTSW 4 98,304,970 (GRCm39) missense possibly damaging 0.94
R7412:Patj UTSW 4 98,299,376 (GRCm39) missense probably damaging 0.98
R7493:Patj UTSW 4 98,383,298 (GRCm39) missense probably benign 0.41
R7570:Patj UTSW 4 98,312,737 (GRCm39) splice site probably null
R7571:Patj UTSW 4 98,457,217 (GRCm39) missense probably damaging 1.00
R7626:Patj UTSW 4 98,435,224 (GRCm39) missense probably benign 0.35
R7658:Patj UTSW 4 98,576,416 (GRCm39) missense probably damaging 1.00
R7664:Patj UTSW 4 98,385,187 (GRCm39) missense possibly damaging 0.92
R7669:Patj UTSW 4 98,407,179 (GRCm39) missense probably damaging 1.00
R7796:Patj UTSW 4 98,435,220 (GRCm39) start codon destroyed probably benign 0.05
R7870:Patj UTSW 4 98,312,553 (GRCm39) missense probably damaging 1.00
R7883:Patj UTSW 4 98,499,372 (GRCm39) missense probably benign 0.00
R7948:Patj UTSW 4 98,312,547 (GRCm39) missense probably damaging 0.99
R8050:Patj UTSW 4 98,427,201 (GRCm39) missense probably benign 0.00
R8183:Patj UTSW 4 98,562,466 (GRCm39) missense probably damaging 0.96
R8239:Patj UTSW 4 98,570,308 (GRCm39) missense possibly damaging 0.90
R8483:Patj UTSW 4 98,312,539 (GRCm39) missense probably damaging 1.00
R8546:Patj UTSW 4 98,325,634 (GRCm39) missense probably benign 0.00
R8746:Patj UTSW 4 98,394,067 (GRCm39) intron probably benign
R8844:Patj UTSW 4 98,480,206 (GRCm39) missense probably damaging 1.00
R8905:Patj UTSW 4 98,385,412 (GRCm39) missense probably damaging 1.00
R8912:Patj UTSW 4 98,385,565 (GRCm39) missense
R8959:Patj UTSW 4 98,480,212 (GRCm39) missense probably damaging 0.99
R9083:Patj UTSW 4 98,401,871 (GRCm39) missense probably benign 0.03
R9173:Patj UTSW 4 98,526,958 (GRCm39) missense probably benign
R9206:Patj UTSW 4 98,427,310 (GRCm39) missense unknown
R9208:Patj UTSW 4 98,427,310 (GRCm39) missense unknown
R9347:Patj UTSW 4 98,576,484 (GRCm39) missense probably benign 0.19
R9560:Patj UTSW 4 98,570,289 (GRCm39) missense probably benign 0.29
R9609:Patj UTSW 4 98,576,473 (GRCm39) missense probably benign 0.00
R9617:Patj UTSW 4 98,393,991 (GRCm39) missense probably benign 0.03
R9658:Patj UTSW 4 98,353,377 (GRCm39) missense probably null 1.00
R9756:Patj UTSW 4 98,565,535 (GRCm39) missense probably benign
Z1176:Patj UTSW 4 98,564,555 (GRCm39) nonsense probably null
Z1176:Patj UTSW 4 98,499,367 (GRCm39) missense probably benign 0.11
Z1177:Patj UTSW 4 98,385,411 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTTTCCTGTGCTGGGAATC -3'
(R):5'- CTGTATTACCCAGTAAGCTGTTGG -3'

Sequencing Primer
(F):5'- CCTGTGCTGGGAATCTTAGG -3'
(R):5'- GCCTGGCATTAGTGACATTGTCAATC -3'
Posted On 2018-02-27