Mutagenetix > Incidental Mutation

Incidental Mutation 'R0465:Patj'

41562

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Cipp, Inadl

MMRRC Submission

038665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0465 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98284022-98607840 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 98423744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107029] [ENSMUST00000107033] [ENSMUST00000107034] [ENSMUST00000134901]

AlphaFold

Q63ZW7

Predicted Effect

probably null
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 null
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

Predicted Effect

probably null
Transcript: ENSMUST00000107033

SMART Domains

Protein: ENSMUSP00000102648
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
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

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	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

Predicted Effect

probably null
Transcript: ENSMUST00000134901

SMART Domains

Protein: ENSMUSP00000115936
Gene: ENSMUSG00000061859

Domain	Start	End	E-Value	Type
PDZ	20	103	8.65e-19	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (71/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	A	17: 56,092,137 (GRCm39)		probably benign	Het
Ankrd13a	T	A	5: 114,942,295 (GRCm39)	I526N	probably damaging	Het
Aox1	G	A	1: 58,101,366 (GRCm39)	V446I	probably damaging	Het
Arid1b	G	A	17: 5,046,535 (GRCm39)	G441D	possibly damaging	Het
Bdkrb2	A	T	12: 105,558,118 (GRCm39)	N120Y	possibly damaging	Het
Bud31	G	A	5: 145,083,396 (GRCm39)	V80I	probably damaging	Het
Camkmt	T	A	17: 85,738,950 (GRCm39)	F225L	probably damaging	Het
Carf	T	C	1: 60,171,142 (GRCm39)	M200T	probably damaging	Het
Carmil3	T	C	14: 55,737,318 (GRCm39)	L767P	probably damaging	Het
Cdk14	T	A	5: 5,143,019 (GRCm39)	R237S	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cfap65	G	A	1: 74,956,043 (GRCm39)	R1093C	possibly damaging	Het
Cnot8	T	A	11: 58,004,886 (GRCm39)	V195E	probably damaging	Het
Copa	T	C	1: 171,945,872 (GRCm39)	F936S	probably damaging	Het
Cstdc1	A	G	2: 148,625,345 (GRCm39)	N93S	probably benign	Het
Dnai1	T	A	4: 41,629,988 (GRCm39)		probably null	Het
Dsel	T	C	1: 111,789,992 (GRCm39)	N181S	probably benign	Het
Enpp7	A	G	11: 118,879,607 (GRCm39)	N87S	probably damaging	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gm12695	T	C	4: 96,673,312 (GRCm39)	Y29C	probably damaging	Het
Gm5592	T	A	7: 40,805,481 (GRCm39)		probably benign	Het
Gmnc	T	G	16: 26,781,702 (GRCm39)	N109T	probably damaging	Het
Gstcd	A	G	3: 132,688,905 (GRCm39)	I615T	probably benign	Het
Hal	A	C	10: 93,352,146 (GRCm39)	K646Q	probably benign	Het
Hbs1l	A	G	10: 21,227,940 (GRCm39)	I472V	probably null	Het
Ift27	A	T	15: 78,057,958 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,503,783 (GRCm39)	I163N	probably damaging	Het
Isg20l2	T	A	3: 87,838,987 (GRCm39)	V66E	probably benign	Het
Itgb4	T	C	11: 115,870,582 (GRCm39)	M137T	probably damaging	Het
Lca5	T	A	9: 83,277,920 (GRCm39)	K475*	probably null	Het
Lyve1	A	G	7: 110,452,034 (GRCm39)		probably null	Het
Map3k19	T	C	1: 127,766,264 (GRCm39)	D220G	probably damaging	Het
Mdn1	T	A	4: 32,699,204 (GRCm39)		probably benign	Het
Mmp15	T	C	8: 96,094,626 (GRCm39)	W167R	probably damaging	Het
Ms4a13	A	G	19: 11,149,957 (GRCm39)	C135R	probably benign	Het
Myh1	A	G	11: 67,101,243 (GRCm39)	H673R	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Oas2	A	G	5: 120,873,120 (GRCm39)	I645T	probably damaging	Het
Or52s6	A	T	7: 103,092,042 (GRCm39)	F96Y	possibly damaging	Het
Pard3b	T	G	1: 62,250,877 (GRCm39)		probably benign	Het
Pcare	A	G	17: 72,057,155 (GRCm39)	C841R	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 110,350,295 (GRCm39)	S380N	probably benign	Het
Rab34	C	A	11: 78,081,337 (GRCm39)	C67*	probably null	Het
Rimbp3	T	C	16: 17,029,644 (GRCm39)	S1023P	possibly damaging	Het
Rnf148	T	C	6: 23,654,684 (GRCm39)	N104S	probably benign	Het
Rpa1	T	C	11: 75,203,921 (GRCm39)	T288A	probably damaging	Het
Scn9a	A	G	2: 66,357,340 (GRCm39)	L976P	probably damaging	Het
Serpina12	T	A	12: 104,004,104 (GRCm39)	D176V	probably benign	Het
Sik1	C	T	17: 32,073,996 (GRCm39)	V10I	possibly damaging	Het
Sntb1	C	A	15: 55,612,672 (GRCm39)	R302L	probably benign	Het
Stambp	A	G	6: 83,547,321 (GRCm39)	I56T	probably benign	Het
Tac2	A	G	10: 127,565,039 (GRCm39)		probably benign	Het
Tecta	A	T	9: 42,270,714 (GRCm39)	I1198K	possibly damaging	Het
Tfip11	C	T	5: 112,481,130 (GRCm39)	R369C	probably benign	Het
Tnpo1	A	G	13: 99,021,142 (GRCm39)	I79T	probably damaging	Het
Ttll5	A	T	12: 85,980,100 (GRCm39)	N895Y	probably benign	Het
Ube2u	T	A	4: 100,389,293 (GRCm39)		probably benign	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Vmn2r100	G	A	17: 19,751,792 (GRCm39)	V612I	probably damaging	Het
Vmn2r59	G	T	7: 41,696,332 (GRCm39)	H137N	probably benign	Het
Vsig10l	T	C	7: 43,116,866 (GRCm39)	V467A	probably damaging	Het
Vwde	A	G	6: 13,215,805 (GRCm39)		probably benign	Het
Xrra1	T	A	7: 99,528,578 (GRCm39)	D139E	probably benign	Het
Zc3h15	T	C	2: 83,494,159 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,310,716 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,509,413 (GRCm39)		probably benign	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
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'- CCTGAGCCACAGAGTGAGAAAAGTC -3'
(R):5'- CTCATGCCTCATCCTGTCAAGAACC -3'

Sequencing Primer
(F):5'- ttcctcctgcctccacc -3'
(R):5'- TCCTGTCAAGAACCAAGCTC -3'

Posted On

2013-05-23