Incidental Mutation 'R4945:Patj'
ID 381290
Institutional Source Beutler Lab
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Cipp, Inadl
MMRRC Submission 042542-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4945 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 98284022-98607840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98383301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 268 (N268Y)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107029] [ENSMUST00000107033] [ENSMUST00000107034]
AlphaFold Q63ZW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041284
AA Change: N790Y

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: N790Y

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 possibly damaging
Transcript: ENSMUST00000107029
AA Change: N217Y

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: N217Y

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: ENSMUST00000107033
SMART Domains Protein: ENSMUSP00000102648
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
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 possibly damaging
Transcript: ENSMUST00000107034
AA Change: N786Y

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: N786Y

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 noncoding transcript
Transcript: ENSMUST00000135606
Predicted Effect probably damaging
Transcript: ENSMUST00000142103
AA Change: N268Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: N268Y

DomainStartEndE-ValueType
PDZ 49 120 1.28e-12 SMART
PDZ 175 254 9.5e-16 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 G A 2: 26,876,622 (GRCm39) R512H probably damaging Het
Adgrl2 T A 3: 148,528,672 (GRCm39) M1158L probably damaging Het
Adgrl3 C A 5: 81,659,895 (GRCm39) H153Q probably damaging Het
Aldh1a2 C A 9: 71,123,198 (GRCm39) Q24K probably benign Het
Atp1b1 A G 1: 164,265,867 (GRCm39) V298A probably damaging Het
Casp8ap2 T A 4: 32,631,163 (GRCm39) N74K possibly damaging Het
Cep135 A G 5: 76,745,275 (GRCm39) D229G probably benign Het
Cerk C G 15: 86,040,802 (GRCm39) D186H probably benign Het
Cmtr2 T C 8: 110,948,065 (GRCm39) F125S probably damaging Het
Col6a1 A G 10: 76,548,106 (GRCm39) V650A unknown Het
Cuzd1 A G 7: 130,918,350 (GRCm39) F196L probably damaging Het
Esm1 T G 13: 113,346,679 (GRCm39) probably null Het
Fbn2 T A 18: 58,183,325 (GRCm39) I1787F possibly damaging Het
Gm1110 T C 9: 26,831,891 (GRCm39) M87V possibly damaging Het
Gpr179 T C 11: 97,240,544 (GRCm39) H293R probably damaging Het
Grk2 A G 19: 4,340,475 (GRCm39) I302T probably damaging Het
Hoxb6 A G 11: 96,190,085 (GRCm39) Y28C possibly damaging Het
Ift27 A G 15: 78,048,454 (GRCm39) V110A probably damaging Het
Igfbp7 T C 5: 77,499,104 (GRCm39) D267G probably benign Het
Ighv1-49 C A 12: 115,019,028 (GRCm39) V56L possibly damaging Het
Ighv8-8 C T 12: 115,257,881 (GRCm39) M53I probably benign Het
Kcnj3 T A 2: 55,327,590 (GRCm39) N126K probably damaging Het
Kif12 C T 4: 63,086,730 (GRCm39) probably null Het
Lrif1 A C 3: 106,643,069 (GRCm39) I725L probably damaging Het
Lrrk2 T C 15: 91,689,123 (GRCm39) V2265A probably benign Het
Med25 T C 7: 44,532,526 (GRCm39) N438S possibly damaging Het
Mex3b A T 7: 82,519,382 (GRCm39) T566S probably benign Het
Mkx T C 18: 7,000,657 (GRCm39) N95S possibly damaging Het
Morc3 A T 16: 93,668,082 (GRCm39) D820V probably damaging Het
Mroh4 G T 15: 74,483,857 (GRCm39) N562K probably benign Het
Ndst3 A T 3: 123,346,201 (GRCm39) I276N probably damaging Het
Notch2 A G 3: 98,019,037 (GRCm39) N733S probably benign Het
Or10a5 A T 7: 106,635,526 (GRCm39) M55L probably benign Het
Or2l13b C A 16: 19,349,307 (GRCm39) R121L probably benign Het
Or51k1 G A 7: 103,661,585 (GRCm39) T108I possibly damaging Het
Or5ak24 T C 2: 85,260,895 (GRCm39) T93A probably benign Het
Or5m13 T A 2: 85,748,917 (GRCm39) I216N possibly damaging Het
Or8b38 G T 9: 37,973,068 (GRCm39) G151C probably damaging Het
Or8b44 A T 9: 38,410,585 (GRCm39) I207F probably damaging Het
Or8k37 T C 2: 86,469,833 (GRCm39) Y73C probably damaging Het
Pbrm1 T A 14: 30,774,173 (GRCm39) D446E probably damaging Het
Pcdhga11 A G 18: 37,891,085 (GRCm39) T698A probably benign Het
Pde6a T C 18: 61,367,790 (GRCm39) V266A probably damaging Het
Phax G T 18: 56,709,063 (GRCm39) R209L probably damaging Het
Pld2 T A 11: 70,446,524 (GRCm39) M20K probably damaging Het
Rabl3 T C 16: 37,362,220 (GRCm39) S20P probably damaging Het
Rad51 T A 2: 118,957,629 (GRCm39) V174E probably damaging Het
Rb1cc1 A G 1: 6,319,851 (GRCm39) E1090G probably benign Het
Rfc3 T C 5: 151,566,450 (GRCm39) E333G probably damaging Het
Rfx6 T G 10: 51,602,947 (GRCm39) Y821* probably null Het
Riok3 A G 18: 12,261,972 (GRCm39) D2G probably damaging Het
Rtn1 G T 12: 72,264,258 (GRCm39) A183E probably damaging Het
Skint8 T C 4: 111,796,805 (GRCm39) L303P probably damaging Het
Slc36a2 C A 11: 55,065,520 (GRCm39) V162L probably benign Het
Sorcs3 T C 19: 48,752,587 (GRCm39) V794A possibly damaging Het
Sspo A G 6: 48,444,021 (GRCm39) probably null Het
Tbk1 T C 10: 121,387,174 (GRCm39) N707S probably damaging Het
Tchhl1 A T 3: 93,378,883 (GRCm39) H529L probably benign Het
Tgfbr2 A T 9: 115,960,633 (GRCm39) H106Q probably benign Het
Trim8 A G 19: 46,491,214 (GRCm39) E111G probably benign Het
Tshz2 A G 2: 169,725,794 (GRCm39) Y130C probably damaging Het
Txndc15 T A 13: 55,865,978 (GRCm39) D147E probably benign Het
Vmn1r172 T A 7: 23,359,745 (GRCm39) L210H possibly damaging Het
Vmn1r55 A G 7: 5,150,105 (GRCm39) V106A probably damaging Het
Vmn2r49 T A 7: 9,720,214 (GRCm39) K426* probably null Het
Wnk2 C T 13: 49,210,722 (GRCm39) R206Q probably damaging Het
Zfp1007 A T 5: 109,824,941 (GRCm39) C170S possibly damaging Het
Zfp473 T C 7: 44,383,988 (GRCm39) N115S probably benign Het
Zfp536 G T 7: 37,269,161 (GRCm39) A85D probably damaging Het
Zfp853 C A 5: 143,274,584 (GRCm39) Q345H unknown 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
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
R6192:Patj UTSW 4 98,344,394 (GRCm39) missense probably damaging 1.00
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'- AGTTGTGGCCTACAGTTCATTTTC -3'
(R):5'- AACTATTTAACCGAGTGAGTGGC -3'

Sequencing Primer
(F):5'- ACAGTTCATTTTCTTTTCATTGTTGG -3'
(R):5'- TGTCCTCTTACACACACACAC -3'
Posted On 2016-04-27