Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Patj'

724082

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 #

R9609 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98284022-98607840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98576473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 570 (F570L)

Ref Sequence

ENSEMBL: ENSMUSP00000030290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030290] [ENSMUST00000041284] [ENSMUST00000102792] [ENSMUST00000107029]

AlphaFold

Q63ZW7

Predicted Effect

probably benign
Transcript: ENSMUST00000030290
AA Change: F570L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859
AA Change: F570L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,208,549 (GRCm39)	S241P	probably damaging	Het
Adam23	A	T	1: 63,576,102 (GRCm39)	M295L	probably benign	Het
Ano8	T	A	8: 71,933,726 (GRCm39)	D522V	unknown	Het
Asgr2	T	C	11: 69,988,667 (GRCm39)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,573,580 (GRCm39)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,847,958 (GRCm39)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,884,513 (GRCm39)	E145G		Het
Cad	T	C	5: 31,228,018 (GRCm39)		probably null	Het
Dhrs7b	A	G	11: 60,735,121 (GRCm39)	R51G	possibly damaging	Het
Dnah3	A	T	7: 119,670,236 (GRCm39)	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,616,644 (GRCm39)	G216S	probably null	Het
Dync1h1	T	C	12: 110,607,362 (GRCm39)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,167,515 (GRCm39)	T81A	probably benign	Het
Fga	A	T	3: 82,940,064 (GRCm39)	I573F	probably damaging	Het
Fgd6	T	A	10: 93,879,674 (GRCm39)	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653 (GRCm39)	C41*	probably null	Het
Fibcd1	A	G	2: 31,728,653 (GRCm39)	V68A	probably benign	Het
Fign	T	C	2: 63,810,286 (GRCm39)	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,607,396 (GRCm39)	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,555,346 (GRCm39)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,060,221 (GRCm39)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,226,869 (GRCm39)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,474,677 (GRCm39)	I473T	probably benign	Het
Lcn3	A	G	2: 25,657,596 (GRCm39)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,401,298 (GRCm39)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mlip	T	A	9: 77,045,797 (GRCm39)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,577,234 (GRCm39)	T175S		Het
Nkpd1	A	C	7: 19,257,462 (GRCm39)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,540,203 (GRCm39)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,843,599 (GRCm39)	T99A	probably benign	Het
Piwil4	T	C	9: 14,614,443 (GRCm39)	T107A		Het
Ppp1r12b	G	A	1: 134,824,084 (GRCm39)	Q180*	probably null	Het
Prpf4b	A	G	13: 35,068,032 (GRCm39)	D287G	unknown	Het
Rab17	T	C	1: 90,891,907 (GRCm39)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,179,565 (GRCm39)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,402,222 (GRCm39)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,616,518 (GRCm39)	L257P	probably benign	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,834,407 (GRCm39)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm39)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,530,035 (GRCm39)	T248S	possibly damaging	Het
Spen	A	G	4: 141,215,419 (GRCm39)	I471T	unknown	Het
Tbpl2	C	T	2: 23,977,197 (GRCm39)	D274N	probably damaging	Het
Timm23	A	G	14: 31,902,543 (GRCm39)	M200T	probably benign	Het
Tlr3	T	C	8: 45,850,117 (GRCm39)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,113,208 (GRCm39)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,667,618 (GRCm39)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,855,964 (GRCm39)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,758,148 (GRCm39)	T829A	probably damaging	Het
Ugt3a1	A	C	15: 9,361,905 (GRCm39)	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,320,839 (GRCm39)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,743,732 (GRCm39)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,841,831 (GRCm39)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,900,258 (GRCm39)	D38G	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,150,751 (GRCm39)	V23D	unknown	Het
Zkscan8	C	A	13: 21,709,434 (GRCm39)	V155F	possibly damaging	Het

Other mutations in Patj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Posted On

2022-09-12