Incidental Mutation 'R0463:Patj'
ID 41469
Institutional Source Beutler Lab
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Cipp, Inadl
MMRRC Submission 038663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0463 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 98284022-98607840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98562545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1505 (E1505K)
Ref Sequence ENSEMBL: ENSMUSP00000102649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030290] [ENSMUST00000041284] [ENSMUST00000102792] [ENSMUST00000107029] [ENSMUST00000107034]
AlphaFold Q63ZW7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030290
AA Change: E339K

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859
AA Change: E339K

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 damaging
Transcript: ENSMUST00000041284
AA Change: E1561K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: E1561K

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 damaging
Transcript: ENSMUST00000102792
AA Change: E339K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099854
Gene: ENSMUSG00000061859
AA Change: E339K

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 damaging
Transcript: ENSMUST00000107029
AA Change: E988K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: E988K

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 damaging
Transcript: ENSMUST00000107034
AA Change: E1505K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: E1505K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.5%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,926 (GRCm39) probably benign Het
Abcd2 C T 15: 91,043,327 (GRCm39) M620I probably benign Het
Ada T A 2: 163,572,271 (GRCm39) I243F probably benign Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Adarb2 A T 13: 8,253,224 (GRCm39) probably benign Het
Adk A C 14: 21,473,604 (GRCm39) Q287P probably benign Het
Ahnak A G 19: 8,986,771 (GRCm39) probably benign Het
Aoc3 C T 11: 101,222,432 (GRCm39) R223W probably damaging Het
Aqp11 T C 7: 97,378,228 (GRCm39) D229G probably benign Het
Arhgap28 A G 17: 68,203,220 (GRCm39) S78P probably damaging Het
Bfsp2 T A 9: 103,303,854 (GRCm39) E383D possibly damaging Het
Bmpr1b A T 3: 141,563,191 (GRCm39) V251D possibly damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Catsperd A G 17: 56,966,554 (GRCm39) D508G probably damaging Het
Cfap54 A G 10: 92,710,805 (GRCm39) probably null Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chga A T 12: 102,529,210 (GRCm39) R396* probably null Het
Cntnap3 T C 13: 64,926,690 (GRCm39) E560G probably damaging Het
Csmd1 T C 8: 15,971,759 (GRCm39) T3024A probably damaging Het
Csrnp1 CCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTC 9: 119,801,841 (GRCm39) probably benign Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah2 A T 11: 69,313,952 (GRCm39) M4140K probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Eftud2 A T 11: 102,755,597 (GRCm39) D203E probably damaging Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Faf1 C T 4: 109,748,138 (GRCm39) A481V probably benign Het
Fat2 A T 11: 55,153,655 (GRCm39) V3519D probably damaging Het
Fbln7 C A 2: 128,719,431 (GRCm39) A76E probably benign Het
Galnt1 A T 18: 24,387,582 (GRCm39) K49N probably benign Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Grk1 T C 8: 13,459,279 (GRCm39) Y277H probably damaging Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Ier3 T C 17: 36,133,000 (GRCm39) I94T possibly damaging Het
Il11 T C 7: 4,779,023 (GRCm39) T36A probably damaging Het
Il5ra A T 6: 106,708,851 (GRCm39) D296E probably damaging Het
Itk A T 11: 46,222,816 (GRCm39) V551E probably damaging Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Kif5a A T 10: 127,071,521 (GRCm39) S776T probably benign Het
Klrb1c T C 6: 128,757,366 (GRCm39) E233G probably benign Het
Kpna7 T C 5: 144,944,804 (GRCm39) K12R possibly damaging Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lhx8 A T 3: 154,033,808 (GRCm39) probably null Het
Magel2 T A 7: 62,027,778 (GRCm39) H227Q possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mapkbp1 T A 2: 119,853,632 (GRCm39) M1152K probably benign Het
Mcoln3 T A 3: 145,846,331 (GRCm39) L547* probably null Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Myom2 T C 8: 15,154,123 (GRCm39) V687A probably benign Het
Nav1 C A 1: 135,379,945 (GRCm39) V1586F possibly damaging Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Nfam1 T C 15: 82,885,684 (GRCm39) T223A probably damaging Het
Nrcam T A 12: 44,598,124 (GRCm39) V371E probably damaging Het
Nup210l A G 3: 90,087,518 (GRCm39) Q1097R probably null Het
Obox5 T A 7: 15,491,571 (GRCm39) M37K probably damaging Het
Obscn A T 11: 58,952,356 (GRCm39) N4270K probably benign Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Or5ak25 T A 2: 85,268,630 (GRCm39) S291C probably damaging Het
Or6c1 A G 10: 129,517,708 (GRCm39) M300T probably benign Het
Or8c15 G A 9: 38,120,360 (GRCm39) A2T probably benign Het
Or8k16 T C 2: 85,520,183 (GRCm39) S137P possibly damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Ppp1r36 G A 12: 76,465,741 (GRCm39) E43K probably damaging Het
Ptch1 C T 13: 63,668,121 (GRCm39) V939I probably damaging Het
Rgs22 C A 15: 36,093,084 (GRCm39) K396N probably damaging Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Ryr3 A T 2: 112,492,046 (GRCm39) F3743L probably damaging Het
Scn7a C T 2: 66,506,084 (GRCm39) G1602R probably benign Het
Sftpc A T 14: 70,760,110 (GRCm39) V49E probably damaging Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slco4c1 A C 1: 96,795,645 (GRCm39) S138A possibly damaging Het
Snd1 T C 6: 28,724,955 (GRCm39) I501T probably benign Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tbc1d9b G A 11: 50,035,894 (GRCm39) G130E probably benign Het
Tdrd6 T A 17: 43,936,452 (GRCm39) D1532V probably damaging Het
Tekt1 T C 11: 72,242,778 (GRCm39) D243G probably damaging Het
Tet2 A G 3: 133,192,427 (GRCm39) L669S possibly damaging Het
Tnnt3 A G 7: 142,066,072 (GRCm39) N201S probably benign Het
Trdn A G 10: 33,342,417 (GRCm39) probably null Het
Trim36 T C 18: 46,311,523 (GRCm39) E259G possibly damaging Het
Trpm1 C T 7: 63,870,002 (GRCm39) P436S probably benign Het
Vmn1r183 T A 7: 23,754,926 (GRCm39) L243Q probably damaging Het
Vps13b T C 15: 35,597,555 (GRCm39) S1032P probably damaging Het
Vps37d T C 5: 135,105,395 (GRCm39) E76G probably damaging Het
Vps72 A G 3: 95,028,615 (GRCm39) H202R probably benign Het
Wdr75 T C 1: 45,858,762 (GRCm39) S644P probably damaging Het
Wrn T A 8: 33,770,843 (GRCm39) E697V possibly damaging Het
Xirp2 A G 2: 67,345,262 (GRCm39) D2501G probably benign Het
Zfp472 T C 17: 33,194,936 (GRCm39) W24R probably damaging Het
Zmym6 T C 4: 127,016,565 (GRCm39) V782A probably 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
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
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'- CTGAAGCCTCTGTTGTAAGACACCC -3'
(R):5'- CTTACTGTGGAGCTGAGTGCAGAC -3'

Sequencing Primer
(F):5'- GTTGTAAGACACCCGTCTCAG -3'
(R):5'- CCCAGCTAGAATCAGGTGTG -3'
Posted On 2013-05-23