Incidental Mutation 'R7570:Patj'
ID 586024
Institutional Source Beutler Lab
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Inadl, Cipp
MMRRC Submission 045631-MU
Accession Numbers

Genbank: NM_172696; MGI: 1277960

Essential gene? Non essential (E-score: 0.000) question?
Stock # R7570 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 98395785-98719603 bp(+) (GRCm38)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 98424500 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107030] [ENSMUST00000107033] [ENSMUST00000107034]
AlphaFold Q63ZW7
Predicted Effect probably null
Transcript: ENSMUST00000041284
SMART Domains Protein: ENSMUSP00000049176
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
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 null
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 null
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 probably null
Transcript: ENSMUST00000107034
SMART Domains Protein: ENSMUSP00000102649
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
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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (104/106)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,934,610 (GRCm38) T613I probably benign Het
9130019O22Rik T A 7: 127,385,283 (GRCm38) S216C probably benign Het
Ajuba T C 14: 54,576,402 (GRCm38) E288G probably damaging Het
Ankrd12 C T 17: 65,985,360 (GRCm38) R1026K probably benign Het
Apol7b T C 15: 77,423,474 (GRCm38) T274A probably benign Het
Arid4a A T 12: 71,063,142 (GRCm38) R86* probably null Het
Asnsd1 C T 1: 53,348,258 (GRCm38) G70D probably damaging Het
Atg4c T A 4: 99,228,560 (GRCm38) V313D possibly damaging Het
Atp13a5 A C 16: 29,266,963 (GRCm38) C885G probably damaging Het
Bpifb9a A T 2: 154,262,263 (GRCm38) I209F possibly damaging Het
Bsn T C 9: 108,113,543 (GRCm38) D1670G probably damaging Het
Cct8 T A 16: 87,491,322 (GRCm38) I121F probably benign Het
Cd209a T G 8: 3,744,151 (GRCm38) D217A probably damaging Het
Cdk19 C T 10: 40,477,958 (GRCm38) S456L possibly damaging Het
Chd9 C T 8: 90,994,580 (GRCm38) H999Y unknown Het
Col5a1 G A 2: 27,951,383 (GRCm38) V339M unknown Het
Cr2 G A 1: 195,169,340 (GRCm38) R115* probably null Het
Cyb561 A T 11: 105,937,644 (GRCm38) F62I probably damaging Het
Cyp2c38 A T 19: 39,404,743 (GRCm38) N293K possibly damaging Het
Cyp2c69 A T 19: 39,859,898 (GRCm38) D293E probably damaging Het
Dcbld2 T A 16: 58,424,569 (GRCm38) C69S possibly damaging Het
Dcdc2a T C 13: 25,119,373 (GRCm38) S296P probably benign Het
Dmxl1 T A 18: 49,893,957 (GRCm38) I2044K possibly damaging Het
Dnah5 A G 15: 28,346,952 (GRCm38) D2527G probably damaging Het
Dnah6 T C 6: 73,149,430 (GRCm38) T1305A probably benign Het
Dnajc9 A G 14: 20,388,644 (GRCm38) V47A probably benign Het
Dnmt3b A G 2: 153,676,699 (GRCm38) Y594C probably damaging Het
Dph7 A G 2: 24,965,630 (GRCm38) D147G probably damaging Het
Drap1 T C 19: 5,423,352 (GRCm38) H164R possibly damaging Het
Dsg3 T A 18: 20,527,780 (GRCm38) V392E possibly damaging Het
Dxo A G 17: 34,837,640 (GRCm38) D81G probably benign Het
E230025N22Rik G T 18: 36,695,592 (GRCm38) T11K probably benign Het
Esyt1 A G 10: 128,518,932 (GRCm38) V533A possibly damaging Het
Etv3 T A 3: 87,536,031 (GRCm38) C307* probably null Het
Fam114a1 T A 5: 65,030,059 (GRCm38) probably null Het
Fam208b A G 13: 3,573,621 (GRCm38) Y2110H probably damaging Het
Fam3c T A 6: 22,326,405 (GRCm38) probably benign Het
Fbn1 G T 2: 125,397,852 (GRCm38) T305K probably benign Het
Ggt1 A T 10: 75,585,594 (GRCm38) I484F probably damaging Het
Gm10639 A T 9: 78,304,469 (GRCm38) D171V possibly damaging Het
Gpatch1 T C 7: 35,293,812 (GRCm38) D536G probably damaging Het
Gpx4 T C 10: 80,055,041 (GRCm38) I189T probably damaging Het
Gsr T A 8: 33,669,165 (GRCm38) C85S probably damaging Het
Havcr1 T A 11: 46,770,542 (GRCm38) probably null Het
Heatr4 T C 12: 83,979,644 (GRCm38) T280A probably benign Het
Hmcn2 A T 2: 31,423,911 (GRCm38) E3532D probably benign Het
Hnrnpc T C 14: 52,075,099 (GRCm38) N308S possibly damaging Het
Ighv8-9 A G 12: 115,468,738 (GRCm38) V13A probably benign Het
Itgb2l A T 16: 96,426,239 (GRCm38) F535I probably benign Het
Kdm5a T G 6: 120,427,842 (GRCm38) D1348E probably damaging Het
Kndc1 CT C 7: 139,923,775 (GRCm38) probably null Het
Ky A G 9: 102,542,329 (GRCm38) I512V probably benign Het
Lamc1 A T 1: 153,243,275 (GRCm38) F866Y possibly damaging Het
Lbx1 C A 19: 45,235,248 (GRCm38) probably benign Het
Magel2 A G 7: 62,378,910 (GRCm38) T521A possibly damaging Het
Mgam A T 6: 40,746,433 (GRCm38) I491L probably benign Het
Mitd1 T C 1: 37,890,192 (GRCm38) E40G probably damaging Het
Mpzl3 A G 9: 45,070,687 (GRCm38) T218A probably benign Het
Mrpl42 A G 10: 95,480,965 (GRCm38) S77P probably benign Het
Mup5 C T 4: 61,834,674 (GRCm38) W37* probably null Het
Myh14 T C 7: 44,632,426 (GRCm38) I803V probably benign Het
Ncor2 T A 5: 125,030,089 (GRCm38) T744S Het
Ndufv3 A G 17: 31,527,622 (GRCm38) D162G probably damaging Het
Nostrin A G 2: 69,175,806 (GRCm38) E278G probably damaging Het
Nrxn1 T G 17: 90,162,379 (GRCm38) E1288A probably benign Het
Olfr1205 A G 2: 88,831,128 (GRCm38) N4D possibly damaging Het
Olfr623 C A 7: 103,660,881 (GRCm38) R123L probably damaging Het
Olfr648 T A 7: 104,179,748 (GRCm38) Y220F probably damaging Het
Olfr972 A T 9: 39,873,455 (GRCm38) Y60F possibly damaging Het
Pcm1 T G 8: 41,267,344 (GRCm38) I314R possibly damaging Het
Pcsk6 A G 7: 66,033,898 (GRCm38) T754A probably benign Het
Pde2a A T 7: 101,502,834 (GRCm38) N326I probably benign Het
Plekhg4 T C 8: 105,378,684 (GRCm38) S594P possibly damaging Het
Plekhm3 T C 1: 64,937,906 (GRCm38) D135G probably damaging Het
Plin4 A T 17: 56,106,776 (GRCm38) M283K probably benign Het
Ppfia3 T C 7: 45,340,748 (GRCm38) probably null Het
Prdm9 T C 17: 15,555,652 (GRCm38) N179S probably benign Het
Prrt3 T C 6: 113,494,488 (GRCm38) S908G probably damaging Het
Psg22 C A 7: 18,722,735 (GRCm38) S181Y possibly damaging Het
Rcor3 C A 1: 192,137,876 (GRCm38) G8V probably damaging Het
Rp1l1 T A 14: 64,031,574 (GRCm38) C1536* probably null Het
Rpp25l T C 4: 41,712,529 (GRCm38) H82R probably damaging Het
Rps3a1 T A 3: 86,139,089 (GRCm38) M172L probably benign Het
Rtbdn T C 8: 84,952,927 (GRCm38) L110P probably damaging Het
Ryr1 T A 7: 29,078,585 (GRCm38) Q2169L probably damaging Het
Scn4a A T 11: 106,320,473 (GRCm38) C1573S possibly damaging Het
Sec16b A T 1: 157,531,395 (GRCm38) probably null Het
Serpina1a A T 12: 103,853,837 (GRCm38) D383E possibly damaging Het
Sh3gl3 T C 7: 82,285,077 (GRCm38) M262T probably benign Het
Sos2 G A 12: 69,590,880 (GRCm38) T1052M probably damaging Het
Spag16 G A 1: 69,996,841 (GRCm38) V343I probably benign Het
Spocd1 T G 4: 129,930,164 (GRCm38) D251E Het
Stc2 G T 11: 31,367,798 (GRCm38) N74K probably damaging Het
Thbs3 C T 3: 89,219,052 (GRCm38) Q227* probably null Het
Tmem92 A C 11: 94,778,990 (GRCm38) I105R probably benign Het
Tmod1 T A 4: 46,083,632 (GRCm38) N20K probably benign Het
Tns1 T C 1: 73,953,479 (GRCm38) D53G probably damaging Het
Tspan33 T A 6: 29,717,338 (GRCm38) L246Q probably damaging Het
Ttc16 A G 2: 32,768,968 (GRCm38) L392P probably damaging Het
Uggt1 T A 1: 36,185,838 (GRCm38) T572S probably benign Het
Usp17la A T 7: 104,860,397 (GRCm38) T70S probably damaging Het
Usp31 C T 7: 121,674,963 (GRCm38) R370H probably damaging Het
Wdr83 C T 8: 85,079,834 (GRCm38) V112M probably damaging Het
Zbtb25 T A 12: 76,369,592 (GRCm38) probably benign Het
Zfp110 T A 7: 12,849,340 (GRCm38) N638K possibly damaging Het
Zfp820 T C 17: 21,819,013 (GRCm38) T445A probably benign Het
Other mutations in Patj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Patj APN 4 98,465,106 (GRCm38) missense probably damaging 1.00
IGL00095:Patj APN 4 98,535,562 (GRCm38) missense possibly damaging 0.78
IGL00517:Patj APN 4 98,441,071 (GRCm38) missense possibly damaging 0.95
IGL00802:Patj APN 4 98,424,406 (GRCm38) missense possibly damaging 0.93
IGL01064:Patj APN 4 98,496,973 (GRCm38) missense possibly damaging 0.95
IGL01110:Patj APN 4 98,413,024 (GRCm38) missense probably damaging 0.99
IGL01407:Patj APN 4 98,413,050 (GRCm38) missense possibly damaging 0.49
IGL01821:Patj APN 4 98,456,211 (GRCm38) missense probably damaging 1.00
IGL02399:Patj APN 4 98,591,936 (GRCm38) missense probably damaging 1.00
IGL02494:Patj APN 4 98,703,987 (GRCm38) splice site probably benign
IGL02803:Patj APN 4 98,426,064 (GRCm38) missense probably damaging 0.99
IGL02931:Patj APN 4 98,411,173 (GRCm38) splice site probably benign
IGL03017:Patj APN 4 98,465,027 (GRCm38) splice site probably benign
IGL03115:Patj APN 4 98,443,803 (GRCm38) missense probably damaging 1.00
IGL03209:Patj APN 4 98,465,140 (GRCm38) missense probably null 1.00
IGL03377:Patj APN 4 98,465,104 (GRCm38) missense probably damaging 1.00
D4186:Patj UTSW 4 98,638,762 (GRCm38) missense probably benign 0.17
PIT4531001:Patj UTSW 4 98,441,090 (GRCm38) missense probably damaging 0.98
R0136:Patj UTSW 4 98,667,648 (GRCm38) missense probably damaging 1.00
R0294:Patj UTSW 4 98,497,048 (GRCm38) missense probably damaging 0.99
R0376:Patj UTSW 4 98,568,987 (GRCm38) missense probably damaging 1.00
R0463:Patj UTSW 4 98,674,308 (GRCm38) missense probably damaging 1.00
R0465:Patj UTSW 4 98,535,507 (GRCm38) splice site probably null
R0466:Patj UTSW 4 98,688,156 (GRCm38) missense probably damaging 1.00
R0544:Patj UTSW 4 98,569,110 (GRCm38) missense probably damaging 1.00
R0624:Patj UTSW 4 98,681,235 (GRCm38) splice site probably benign
R0657:Patj UTSW 4 98,667,648 (GRCm38) missense probably damaging 1.00
R1281:Patj UTSW 4 98,416,695 (GRCm38) missense probably damaging 1.00
R1393:Patj UTSW 4 98,424,411 (GRCm38) missense probably benign 0.01
R1480:Patj UTSW 4 98,469,582 (GRCm38) missense probably damaging 1.00
R1667:Patj UTSW 4 98,413,027 (GRCm38) missense probably damaging 1.00
R1728:Patj UTSW 4 98,431,780 (GRCm38) missense possibly damaging 0.50
R1729:Patj UTSW 4 98,431,780 (GRCm38) missense possibly damaging 0.50
R1797:Patj UTSW 4 98,687,438 (GRCm38) missense probably damaging 1.00
R1818:Patj UTSW 4 98,623,648 (GRCm38) missense possibly damaging 0.85
R1835:Patj UTSW 4 98,491,590 (GRCm38) missense probably benign 0.00
R1880:Patj UTSW 4 98,497,240 (GRCm38) missense probably benign 0.00
R2009:Patj UTSW 4 98,456,169 (GRCm38) missense probably damaging 1.00
R2090:Patj UTSW 4 98,437,323 (GRCm38) unclassified probably benign
R2120:Patj UTSW 4 98,456,225 (GRCm38) missense probably benign 0.01
R2180:Patj UTSW 4 98,523,502 (GRCm38) critical splice donor site probably null
R2655:Patj UTSW 4 98,437,450 (GRCm38) missense possibly damaging 0.64
R3156:Patj UTSW 4 98,674,228 (GRCm38) missense probably damaging 1.00
R3749:Patj UTSW 4 98,469,600 (GRCm38) missense probably damaging 1.00
R3767:Patj UTSW 4 98,681,219 (GRCm38) nonsense probably null
R3913:Patj UTSW 4 98,569,101 (GRCm38) missense probably damaging 0.99
R3917:Patj UTSW 4 98,592,008 (GRCm38) nonsense probably null
R3918:Patj UTSW 4 98,456,218 (GRCm38) missense probably damaging 1.00
R4299:Patj UTSW 4 98,677,321 (GRCm38) missense possibly damaging 0.89
R4355:Patj UTSW 4 98,650,454 (GRCm38) missense possibly damaging 0.87
R4471:Patj UTSW 4 98,535,579 (GRCm38) missense probably damaging 1.00
R4762:Patj UTSW 4 98,405,570 (GRCm38) nonsense probably null
R4877:Patj UTSW 4 98,569,058 (GRCm38) missense possibly damaging 0.94
R4945:Patj UTSW 4 98,495,064 (GRCm38) missense probably damaging 0.97
R5274:Patj UTSW 4 98,518,981 (GRCm38) missense probably damaging 0.99
R5343:Patj UTSW 4 98,676,193 (GRCm38) missense probably damaging 1.00
R5554:Patj UTSW 4 98,454,396 (GRCm38) missense possibly damaging 0.79
R5688:Patj UTSW 4 98,520,810 (GRCm38) nonsense probably null
R5880:Patj UTSW 4 98,411,145 (GRCm38) missense probably damaging 0.96
R5972:Patj UTSW 4 98,569,053 (GRCm38) missense probably damaging 0.98
R6149:Patj UTSW 4 98,424,325 (GRCm38) missense possibly damaging 0.72
R6192:Patj UTSW 4 98,456,157 (GRCm38) missense probably damaging 1.00
R6265:Patj UTSW 4 98,469,567 (GRCm38) missense probably benign 0.08
R6350:Patj UTSW 4 98,405,618 (GRCm38) missense probably benign 0.26
R6363:Patj UTSW 4 98,431,860 (GRCm38) missense probably benign 0.25
R6434:Patj UTSW 4 98,491,629 (GRCm38) missense probably damaging 1.00
R6496:Patj UTSW 4 98,416,752 (GRCm38) missense probably damaging 1.00
R6896:Patj UTSW 4 98,426,050 (GRCm38) missense possibly damaging 0.87
R7039:Patj UTSW 4 98,569,078 (GRCm38) missense probably damaging 0.96
R7040:Patj UTSW 4 98,441,080 (GRCm38) missense probably benign 0.02
R7052:Patj UTSW 4 98,677,260 (GRCm38) missense probably benign 0.03
R7066:Patj UTSW 4 98,413,197 (GRCm38) missense probably benign 0.24
R7236:Patj UTSW 4 98,411,057 (GRCm38) missense probably damaging 1.00
R7242:Patj UTSW 4 98,591,933 (GRCm38) missense probably benign 0.26
R7260:Patj UTSW 4 98,416,733 (GRCm38) missense possibly damaging 0.94
R7412:Patj UTSW 4 98,411,139 (GRCm38) missense probably damaging 0.98
R7493:Patj UTSW 4 98,495,061 (GRCm38) missense probably benign 0.41
R7571:Patj UTSW 4 98,568,980 (GRCm38) missense probably damaging 1.00
R7626:Patj UTSW 4 98,546,987 (GRCm38) missense probably benign 0.35
R7658:Patj UTSW 4 98,688,179 (GRCm38) missense probably damaging 1.00
R7664:Patj UTSW 4 98,496,950 (GRCm38) missense possibly damaging 0.92
R7669:Patj UTSW 4 98,518,942 (GRCm38) missense probably damaging 1.00
R7796:Patj UTSW 4 98,546,983 (GRCm38) start codon destroyed probably benign 0.05
R7870:Patj UTSW 4 98,424,316 (GRCm38) missense probably damaging 1.00
R7883:Patj UTSW 4 98,611,135 (GRCm38) missense probably benign 0.00
R7948:Patj UTSW 4 98,424,310 (GRCm38) missense probably damaging 0.99
R8050:Patj UTSW 4 98,538,964 (GRCm38) missense probably benign 0.00
R8183:Patj UTSW 4 98,674,229 (GRCm38) missense probably damaging 0.96
R8239:Patj UTSW 4 98,682,071 (GRCm38) missense possibly damaging 0.90
R8483:Patj UTSW 4 98,424,302 (GRCm38) missense probably damaging 1.00
R8546:Patj UTSW 4 98,437,397 (GRCm38) missense probably benign 0.00
R8746:Patj UTSW 4 98,505,830 (GRCm38) intron probably benign
R8844:Patj UTSW 4 98,591,969 (GRCm38) missense probably damaging 1.00
R8905:Patj UTSW 4 98,497,175 (GRCm38) missense probably damaging 1.00
R8912:Patj UTSW 4 98,497,328 (GRCm38) missense
R8959:Patj UTSW 4 98,591,975 (GRCm38) missense probably damaging 0.99
R9083:Patj UTSW 4 98,513,634 (GRCm38) missense probably benign 0.03
R9173:Patj UTSW 4 98,638,721 (GRCm38) missense probably benign
R9206:Patj UTSW 4 98,539,073 (GRCm38) missense unknown
R9208:Patj UTSW 4 98,539,073 (GRCm38) missense unknown
R9347:Patj UTSW 4 98,688,247 (GRCm38) missense probably benign 0.19
R9560:Patj UTSW 4 98,682,052 (GRCm38) missense probably benign 0.29
R9609:Patj UTSW 4 98,688,236 (GRCm38) missense probably benign 0.00
R9617:Patj UTSW 4 98,505,754 (GRCm38) missense probably benign 0.03
R9658:Patj UTSW 4 98,465,140 (GRCm38) missense probably null 1.00
R9756:Patj UTSW 4 98,677,298 (GRCm38) missense probably benign
Z1176:Patj UTSW 4 98,676,318 (GRCm38) nonsense probably null
Z1176:Patj UTSW 4 98,611,130 (GRCm38) missense probably benign 0.11
Z1177:Patj UTSW 4 98,497,174 (GRCm38) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTTCAAGGGATGACCAGTG -3'
(R):5'- CCTGCTTTTATTCATGGGGAAG -3'

Sequencing Primer
(F):5'- TGACCAGTGAACAAGTTGCTC -3'
(R):5'- TCTTGTCAAAAAGGCAGGCTCTC -3'
Posted On 2019-10-18