Incidental Mutation 'R0624:Patj'
ID 58786
Institutional Source Beutler Lab
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Cipp, Inadl
MMRRC Submission 038813-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0624 (G1)
Quality Score 205
Status Validated
Chromosome 4
Chromosomal Location 98284022-98607840 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 98569472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030290] [ENSMUST00000041284] [ENSMUST00000102792] [ENSMUST00000107029]
AlphaFold Q63ZW7
Predicted Effect probably benign
Transcript: ENSMUST00000030290
SMART Domains Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859

DomainStartEndE-ValueType
PDZ 31 106 6.12e-19 SMART
low complexity region 134 144 N/A INTRINSIC
low complexity region 188 206 N/A INTRINSIC
PDZ 258 333 4.36e-24 SMART
PDZ 355 428 2.49e-19 SMART
PDZ 496 573 1.73e-18 SMART
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000102792
SMART Domains Protein: ENSMUSP00000099854
Gene: ENSMUSG00000061859

DomainStartEndE-ValueType
PDZ 31 106 6.12e-19 SMART
low complexity region 134 144 N/A INTRINSIC
low complexity region 188 206 N/A INTRINSIC
PDZ 258 333 4.36e-24 SMART
PDZ 355 428 2.49e-19 SMART
PDZ 496 573 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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.2%
Validation Efficiency 98% (88/90)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,030,446 (GRCm39) D767V probably damaging Het
Add1 T A 5: 34,763,197 (GRCm39) N128K probably damaging Het
Ado A T 10: 67,384,058 (GRCm39) D182E probably benign Het
Anapc4 T A 5: 53,002,761 (GRCm39) probably benign Het
Ano10 A G 9: 122,088,661 (GRCm39) probably benign Het
Apba2 A G 7: 64,364,263 (GRCm39) probably null Het
Apc2 A G 10: 80,150,417 (GRCm39) T1795A probably benign Het
Atp4a A G 7: 30,418,424 (GRCm39) N571D probably benign Het
Birc6 A G 17: 74,887,344 (GRCm39) N891D probably benign Het
Bltp2 G A 11: 78,159,283 (GRCm39) E494K probably damaging Het
Car3 G T 3: 14,931,864 (GRCm39) M78I probably benign Het
Cc2d2a A T 5: 43,887,371 (GRCm39) H1267L probably benign Het
Cdk18 A G 1: 132,046,610 (GRCm39) L192P probably damaging Het
Cdk9 A T 2: 32,599,836 (GRCm39) Y134N probably damaging Het
Ceacam5 A T 7: 17,448,888 (GRCm39) T85S probably benign Het
Cenpe A G 3: 134,952,347 (GRCm39) T1403A probably benign Het
Chd8 C T 14: 52,457,214 (GRCm39) G918D possibly damaging Het
Csnk1e T A 15: 79,304,098 (GRCm39) probably benign Het
Dctpp1 A T 7: 126,856,365 (GRCm39) I119N probably damaging Het
Defb34 T A 8: 19,173,784 (GRCm39) F6Y unknown Het
Dnai4 T C 4: 102,930,054 (GRCm39) probably benign Het
Dvl1 C G 4: 155,939,232 (GRCm39) N248K probably damaging Het
Dync1h1 T C 12: 110,618,181 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,211,910 (GRCm39) D199G probably damaging Het
Eml5 T A 12: 98,831,738 (GRCm39) R407W probably damaging Het
Epb41l5 T C 1: 119,551,688 (GRCm39) D99G probably damaging Het
Fat1 A T 8: 45,504,205 (GRCm39) N4566I possibly damaging Het
Gm21834 T C 17: 58,049,015 (GRCm39) E67G possibly damaging Het
Gsap T A 5: 21,458,949 (GRCm39) probably null Het
Guf1 T C 5: 69,715,923 (GRCm39) I108T probably damaging Het
Hsd3b5 T C 3: 98,526,720 (GRCm39) D242G probably damaging Het
Kcna7 A G 7: 45,059,114 (GRCm39) D467G probably null Het
Lars1 A G 18: 42,375,849 (GRCm39) probably benign Het
Lrrc56 A T 7: 140,786,366 (GRCm39) D248V probably damaging Het
Map3k14 T A 11: 103,133,117 (GRCm39) E27V possibly damaging Het
Med12l G A 3: 58,945,123 (GRCm39) W116* probably null Het
Mgll A G 6: 88,702,799 (GRCm39) R33G probably damaging Het
Mmp13 A G 9: 7,280,221 (GRCm39) S384G possibly damaging Het
Nalcn C T 14: 123,607,444 (GRCm39) C675Y probably benign Het
Nrxn1 A G 17: 91,396,117 (GRCm39) L13P unknown Het
Ocstamp A G 2: 165,239,772 (GRCm39) V138A probably damaging Het
Or12e8 T G 2: 87,188,026 (GRCm39) Y79* probably null Het
Or2z8 T A 8: 72,812,006 (GRCm39) S161T possibly damaging Het
Or4a68 A G 2: 89,270,482 (GRCm39) V47A possibly damaging Het
Or4f7 T C 2: 111,645,056 (GRCm39) N5S probably damaging Het
Or5p51 A G 7: 107,444,323 (GRCm39) S206P possibly damaging Het
Or9i1b T G 19: 13,896,808 (GRCm39) C141W probably damaging Het
Pcdhb22 A G 18: 37,651,780 (GRCm39) I83V probably benign Het
Pclo A G 5: 14,719,670 (GRCm39) E1269G unknown Het
Plagl2 T C 2: 153,077,973 (GRCm39) T3A probably benign Het
Plcb1 C T 2: 135,136,831 (GRCm39) P309S possibly damaging Het
Pld3 A T 7: 27,239,000 (GRCm39) L175Q possibly damaging Het
Prrx1 A G 1: 163,075,974 (GRCm39) probably benign Het
Psap T G 10: 60,135,345 (GRCm39) probably benign Het
Ptgfr G A 3: 151,540,839 (GRCm39) T223M probably damaging Het
Reep2 A T 18: 34,973,824 (GRCm39) I6F probably benign Het
Rraga A G 4: 86,494,454 (GRCm39) E100G probably benign Het
Rrm2b T C 15: 37,931,889 (GRCm39) D37G probably benign Het
Rtl1 T C 12: 109,559,153 (GRCm39) I895M probably damaging Het
Ryr1 G A 7: 28,774,034 (GRCm39) A2445V probably damaging Het
Sbf1 C T 15: 89,186,532 (GRCm39) D898N possibly damaging Het
Sh3d19 G A 3: 86,022,213 (GRCm39) V548I possibly damaging Het
Shf C A 2: 122,199,116 (GRCm39) probably benign Het
Sipa1l3 T C 7: 29,086,676 (GRCm39) E638G probably damaging Het
Slc13a3 G T 2: 165,253,807 (GRCm39) P449T probably damaging Het
Slc2a13 C T 15: 91,234,215 (GRCm39) V374I possibly damaging Het
Slc4a7 T C 14: 14,794,059 (GRCm38) probably null Het
Slc7a2 T A 8: 41,361,568 (GRCm39) S414T probably benign Het
Slc9c1 A G 16: 45,393,719 (GRCm39) E554G probably benign Het
Smad2 T C 18: 76,433,064 (GRCm39) I332T probably damaging Het
Snrnp40 C T 4: 130,256,451 (GRCm39) P59S probably damaging Het
Sorcs2 A T 5: 36,222,777 (GRCm39) I154N probably damaging Het
Sort1 G A 3: 108,255,946 (GRCm39) G631S probably damaging Het
Sox10 T C 15: 79,043,586 (GRCm39) D149G possibly damaging Het
Spn C T 7: 126,735,380 (GRCm39) V376M possibly damaging Het
Tacc2 A G 7: 130,179,239 (GRCm39) D9G probably damaging Het
Tapt1 T G 5: 44,334,448 (GRCm39) L514F possibly damaging Het
Tcf3 A G 10: 80,249,168 (GRCm39) L480P probably damaging Het
Tenm4 G C 7: 96,423,227 (GRCm39) G637A probably damaging Het
Tex14 T A 11: 87,411,525 (GRCm39) N950K probably benign Het
Tgfbrap1 T G 1: 43,098,289 (GRCm39) H497P probably benign Het
Tnfrsf18 A T 4: 156,110,986 (GRCm39) Y48F possibly damaging Het
Tnxb A C 17: 34,902,522 (GRCm39) H1002P probably damaging Het
Ttn A G 2: 76,593,571 (GRCm39) probably benign Het
Ugt2b34 C G 5: 87,041,591 (GRCm39) probably null Het
Vldlr A G 19: 27,215,663 (GRCm39) D220G possibly damaging Het
Vmn1r33 A T 6: 66,589,121 (GRCm39) Y144* probably null Het
Xrcc4 T C 13: 90,140,594 (GRCm39) E205G possibly damaging 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
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
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'- GCACATAAGTGACCACAGTGTCTCC -3'
(R):5'- CCTGCTTCCTCTTGAAATAGGCCAC -3'

Sequencing Primer
(F):5'- CTTTTCAGGGGGATCAGCAC -3'
(R):5'- tttccttccttccttccttcc -3'
Posted On 2013-07-11