Incidental Mutation 'R9756:Patj'
ID 732722
Institutional Source Beutler Lab
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Cipp, Inadl
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9756 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 98284022-98607840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98565535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1656 (A1656S)
Ref Sequence ENSEMBL: ENSMUSP00000049176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030290] [ENSMUST00000041284] [ENSMUST00000102792] [ENSMUST00000107029] [ENSMUST00000107034]
AlphaFold Q63ZW7
Predicted Effect probably benign
Transcript: ENSMUST00000030290
AA Change: A434S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859
AA Change: A434S

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
AA Change: A1656S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: A1656S

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
AA Change: A434S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099854
Gene: ENSMUSG00000061859
AA Change: A434S

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
AA Change: A1083S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: A1083S

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: 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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.3%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,906 (GRCm39) Y94F possibly damaging Het
Abcb5 A G 12: 118,881,873 (GRCm39) S619P probably damaging Het
Adgrf5 A G 17: 43,761,137 (GRCm39) N944S probably benign Het
Ano1 T A 7: 144,162,666 (GRCm39) M689L probably benign Het
Antxr1 T A 6: 87,217,936 (GRCm39) H314L probably benign Het
Atp13a5 CA C 16: 29,051,583 (GRCm39) probably null Het
Blmh T A 11: 76,859,509 (GRCm39) M370K probably damaging Het
Cdh8 G A 8: 99,759,976 (GRCm39) T591M probably damaging Het
Cep290 G A 10: 100,352,034 (GRCm39) E747K probably damaging Het
Chd6 T C 2: 160,802,259 (GRCm39) S2192G probably benign Het
Cldn8 T G 16: 88,359,917 (GRCm39) T3P probably benign Het
Crtac1 A G 19: 42,286,780 (GRCm39) L421P probably damaging Het
Ddx59 G T 1: 136,345,069 (GRCm39) A247S probably damaging Het
Defa38 C T 8: 21,585,943 (GRCm39) V42I possibly damaging Het
Dennd5a A G 7: 109,496,174 (GRCm39) V1164A possibly damaging Het
Dnhd1 A T 7: 105,353,135 (GRCm39) T2763S probably benign Het
Evpl T C 11: 116,112,077 (GRCm39) D1871G probably damaging Het
Fat1 T A 8: 45,496,974 (GRCm39) I4153N probably damaging Het
Fbxl17 A G 17: 63,367,310 (GRCm39) Y688H probably damaging Het
Fntb A G 12: 76,966,938 (GRCm39) E424G probably benign Het
Gabra4 A G 5: 71,729,067 (GRCm39) M571T probably damaging Het
Hoxb5 T C 11: 96,194,449 (GRCm39) Y4H probably damaging Het
Htr1a T C 13: 105,581,450 (GRCm39) V230A probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv3-4 T C 12: 114,217,448 (GRCm39) T48A probably damaging Het
Il15ra A G 2: 11,728,259 (GRCm39) M53V probably benign Het
Ipo9 A C 1: 135,314,057 (GRCm39) D945E probably benign Het
Klk1b22 A T 7: 43,765,254 (GRCm39) probably null Het
Klkb1 T C 8: 45,735,811 (GRCm39) N184S possibly damaging Het
Lbhd2 G A 12: 111,376,774 (GRCm39) A74T probably damaging Het
Lpcat3 A G 6: 124,679,967 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Mbd5 C A 2: 49,169,283 (GRCm39) P1485T probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mical2 C T 7: 111,902,928 (GRCm39) T133I probably damaging Het
Mylk T C 16: 34,734,387 (GRCm39) S663P probably damaging Het
Or2ag13 A T 7: 106,313,002 (GRCm39) N295K probably benign Het
Or2j3 A G 17: 38,615,971 (GRCm39) V127A probably benign Het
Or4x11 A T 2: 89,867,674 (GRCm39) N137I probably benign Het
Or5ak22 T A 2: 85,230,682 (GRCm39) H65L probably damaging Het
Or5b119 G A 19: 13,456,986 (GRCm39) T192I probably benign Het
Or8b12 G A 9: 37,658,314 (GRCm39) D295N possibly damaging Het
Peg10 GC GCGCC 6: 4,756,452 (GRCm39) probably benign Het
Pigz G T 16: 31,763,787 (GRCm39) G282C probably damaging Het
Pomk G A 8: 26,472,918 (GRCm39) T345M possibly damaging Het
Psap T C 10: 60,130,784 (GRCm39) S205P possibly damaging Het
Ptpn6 A T 6: 124,705,592 (GRCm39) F186L probably damaging Het
Rnase2b T C 14: 51,400,302 (GRCm39) S128P probably damaging Het
Rnf112 C T 11: 61,340,667 (GRCm39) V536I probably damaging Het
Rnf31 A T 14: 55,836,582 (GRCm39) E805D probably damaging Het
Rps6kc1 A T 1: 190,604,021 (GRCm39) D200E probably benign Het
Rufy2 T C 10: 62,818,519 (GRCm39) L25P probably damaging Het
Sec14l2 T A 11: 4,053,978 (GRCm39) K230* probably null Het
Senp1 A G 15: 97,957,806 (GRCm39) I364T possibly damaging Het
Sod1 T A 16: 90,017,753 (GRCm39) M3K probably benign Het
Stab2 T C 10: 86,803,553 (GRCm39) D332G possibly damaging Het
Tcf4 G T 18: 69,790,830 (GRCm39) E408* probably null Het
Tdrd1 T C 19: 56,831,662 (GRCm39) M351T probably benign Het
Tmem39a T C 16: 38,396,126 (GRCm39) Y120H probably benign Het
Trav16 C A 14: 53,980,886 (GRCm39) T25K possibly damaging Het
Unc13c T A 9: 73,839,526 (GRCm39) N442Y probably benign Het
Vmn2r71 A T 7: 85,268,573 (GRCm39) K259* probably null Het
Yipf1 T C 4: 107,176,247 (GRCm39) V47A probably benign Het
Zeb2 T C 2: 44,887,414 (GRCm39) T548A possibly damaging Het
Zmym4 A G 4: 126,771,502 (GRCm39) F1291L 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
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
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
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'- ACCTGGTTATCCTCTGGTAAACC -3'
(R):5'- TGCGCACAGGCAATATTGAAC -3'

Sequencing Primer
(F):5'- TGGTAAACCTCTGCTGCAG -3'
(R):5'- CAGGCAATATTGAACACCGAG -3'
Posted On 2022-11-14