Mutagenetix > Incidental Mutations

Incidental Mutation 'R2090:Patj'

231697

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Inadl, Cipp

MMRRC Submission

040095-MU

Accession Numbers

Genbank: NM_172696; MGI: 1277960

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98395785-98719603 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 98437323 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107030] [ENSMUST00000107033] [ENSMUST00000107034]

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: ENSMUST00000107030

SMART Domains

Protein: ENSMUSP00000102645
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

Predicted Effect

probably benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000141965

Predicted Effect

probably benign
Transcript: ENSMUST00000142103

SMART Domains

Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859

Domain	Start	End	E-Value	Type
PDZ	49	120	1.28e-12	SMART
PDZ	175	254	9.5e-16	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,550,676	S283P	probably benign	Het
Adam32	A	G	8: 24,901,440		probably null	Het
Adcy7	A	T	8: 88,315,857	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,039,930	T410S	possibly damaging	Het
Alg11	G	T	8: 22,065,630	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,298,046	V310A	possibly damaging	Het
Atg16l2	C	T	7: 101,293,368		probably null	Het
AY761184	A	T	8: 21,702,789	W64R	possibly damaging	Het
B3gnt2	A	G	11: 22,836,291	V299A	probably benign	Het
Birc6	A	G	17: 74,662,796	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,364,014	K196E	probably benign	Het
Cdr2l	A	G	11: 115,391,001	K111E	probably damaging	Het
Crtam	T	C	9: 40,984,316	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,090,268	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,097,771	Y571*	probably null	Het
Dpy19l4	T	C	4: 11,304,344	Y99C	probably benign	Het
Edem3	C	T	1: 151,804,826		probably benign	Het
Enpp6	A	T	8: 47,065,370		probably null	Het
Fam26f	A	G	10: 34,126,362	S242P	probably damaging	Het
Foxf2	T	A	13: 31,626,841	D254E	probably benign	Het
Gjb5	T	C	4: 127,356,001	N117D	probably benign	Het
Glmn	G	A	5: 107,561,928	L337F	probably damaging	Het
Gsdmc2	T	A	15: 63,826,826	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,866,782	M144L	probably benign	Het
Ibtk	A	G	9: 85,720,993	I653T	probably benign	Het
Il24	T	G	1: 130,884,837	D99A	possibly damaging	Het
Intu	A	G	3: 40,683,536	Q484R	probably benign	Het
Lsp1	T	C	7: 142,491,807		probably benign	Het
Mad1l1	A	G	5: 140,009,256	S672P	probably benign	Het
Man2a2	A	T	7: 80,364,110		probably benign	Het
Morc3	C	A	16: 93,866,453	H515N	probably benign	Het
Nav1	T	C	1: 135,607,165		probably benign	Het
Ndor1	A	G	2: 25,249,218	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,816,455	F494L	probably benign	Het
Nr1d1	G	A	11: 98,770,610	P277S	probably damaging	Het
Nrg2	T	C	18: 36,018,443	D682G	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Oasl1	G	A	5: 114,935,934	D301N	probably damaging	Het
Olfr1118	A	T	2: 87,309,418	I230F	probably benign	Het
Olfr196	A	G	16: 59,168,140	M1T	probably null	Het
Olfr304	A	T	7: 86,386,081	I193N	probably benign	Het
Palmd	A	G	3: 116,927,434	S123P	probably damaging	Het
Pcsk4	T	C	10: 80,325,821	D162G	probably benign	Het
Plppr5	A	G	3: 117,575,871	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,461,882	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,740,469	T363A	probably benign	Het
Poll	A	T	19: 45,558,838	I65N	probably benign	Het
Prox1	T	A	1: 190,160,812	S479C	probably damaging	Het
Prss50	A	T	9: 110,862,293	S222C	probably damaging	Het
Rasa3	A	C	8: 13,582,381		probably benign	Het
Sec14l3	T	C	11: 4,075,481	V335A	probably benign	Het
Setbp1	C	T	18: 78,856,720	S1244N	probably benign	Het
Sgcg	A	T	14: 61,245,764	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,516,492	I176F	probably benign	Het
Smc6	A	G	12: 11,289,986	T432A	probably benign	Het
Snx25	G	A	8: 46,056,113	P478L	probably damaging	Het
Taf2	A	T	15: 55,016,486	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,259,657	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,484,777	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,936,017	Y410H	probably damaging	Het
Vav3	T	C	3: 109,647,739		probably null	Het
Vmn1r224	T	C	17: 20,419,262	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,754,008	D240G	probably benign	Het
Zfp963	A	T	8: 69,743,346	C152*	probably null	Het

Other mutations in Patj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Patj	APN	4	98465106	missense	probably damaging	1.00
IGL00095:Patj	APN	4	98535562	missense	possibly damaging	0.78
IGL00517:Patj	APN	4	98441071	missense	possibly damaging	0.95
IGL00802:Patj	APN	4	98424406	missense	possibly damaging	0.93
IGL01064:Patj	APN	4	98496973	missense	possibly damaging	0.95
IGL01110:Patj	APN	4	98413024	missense	probably damaging	0.99
IGL01407:Patj	APN	4	98413050	missense	possibly damaging	0.49
IGL01821:Patj	APN	4	98456211	missense	probably damaging	1.00
IGL02399:Patj	APN	4	98591936	missense	probably damaging	1.00
IGL02494:Patj	APN	4	98703987	splice site	probably benign
IGL02803:Patj	APN	4	98426064	missense	probably damaging	0.99
IGL02931:Patj	APN	4	98411173	splice site	probably benign
IGL03017:Patj	APN	4	98465027	splice site	probably benign
IGL03115:Patj	APN	4	98443803	missense	probably damaging	1.00
IGL03209:Patj	APN	4	98465140	missense	probably null	1.00
IGL03377:Patj	APN	4	98465104	missense	probably damaging	1.00
D4186:Patj	UTSW	4	98638762	missense	probably benign	0.17
PIT4531001:Patj	UTSW	4	98441090	missense	probably damaging	0.98
R0136:Patj	UTSW	4	98667648	missense	probably damaging	1.00
R0294:Patj	UTSW	4	98497048	missense	probably damaging	0.99
R0376:Patj	UTSW	4	98568987	missense	probably damaging	1.00
R0463:Patj	UTSW	4	98674308	missense	probably damaging	1.00
R0465:Patj	UTSW	4	98535507	splice site	probably null
R0466:Patj	UTSW	4	98688156	missense	probably damaging	1.00
R0544:Patj	UTSW	4	98569110	missense	probably damaging	1.00
R0624:Patj	UTSW	4	98681235	splice site	probably benign
R0657:Patj	UTSW	4	98667648	missense	probably damaging	1.00
R1281:Patj	UTSW	4	98416695	missense	probably damaging	1.00
R1393:Patj	UTSW	4	98424411	missense	probably benign	0.01
R1480:Patj	UTSW	4	98469582	missense	probably damaging	1.00
R1667:Patj	UTSW	4	98413027	missense	probably damaging	1.00
R1728:Patj	UTSW	4	98431780	missense	possibly damaging	0.50
R1729:Patj	UTSW	4	98431780	missense	possibly damaging	0.50
R1797:Patj	UTSW	4	98687438	missense	probably damaging	1.00
R1818:Patj	UTSW	4	98623648	missense	possibly damaging	0.85
R1835:Patj	UTSW	4	98491590	missense	probably benign	0.00
R1880:Patj	UTSW	4	98497240	missense	probably benign	0.00
R2009:Patj	UTSW	4	98456169	missense	probably damaging	1.00
R2120:Patj	UTSW	4	98456225	missense	probably benign	0.01
R2180:Patj	UTSW	4	98523502	critical splice donor site	probably null
R2655:Patj	UTSW	4	98437450	missense	possibly damaging	0.64
R3156:Patj	UTSW	4	98674228	missense	probably damaging	1.00
R3749:Patj	UTSW	4	98469600	missense	probably damaging	1.00
R3767:Patj	UTSW	4	98681219	nonsense	probably null
R3913:Patj	UTSW	4	98569101	missense	probably damaging	0.99
R3917:Patj	UTSW	4	98592008	nonsense	probably null
R3918:Patj	UTSW	4	98456218	missense	probably damaging	1.00
R4299:Patj	UTSW	4	98677321	missense	possibly damaging	0.89
R4355:Patj	UTSW	4	98650454	missense	possibly damaging	0.87
R4471:Patj	UTSW	4	98535579	missense	probably damaging	1.00
R4762:Patj	UTSW	4	98405570	nonsense	probably null
R4877:Patj	UTSW	4	98569058	missense	possibly damaging	0.94
R4945:Patj	UTSW	4	98495064	missense	probably damaging	0.97
R5274:Patj	UTSW	4	98518981	missense	probably damaging	0.99
R5343:Patj	UTSW	4	98676193	missense	probably damaging	1.00
R5554:Patj	UTSW	4	98454396	missense	possibly damaging	0.79
R5688:Patj	UTSW	4	98520810	nonsense	probably null
R5880:Patj	UTSW	4	98411145	missense	probably damaging	0.96
R5972:Patj	UTSW	4	98569053	missense	probably damaging	0.98
R6149:Patj	UTSW	4	98424325	missense	possibly damaging	0.72
R6192:Patj	UTSW	4	98456157	missense	probably damaging	1.00
R6265:Patj	UTSW	4	98469567	missense	probably benign	0.08
R6350:Patj	UTSW	4	98405618	missense	probably benign	0.26
R6363:Patj	UTSW	4	98431860	missense	probably benign	0.25
R6434:Patj	UTSW	4	98491629	missense	probably damaging	1.00
R6496:Patj	UTSW	4	98416752	missense	probably damaging	1.00
R6896:Patj	UTSW	4	98426050	missense	possibly damaging	0.87
R7039:Patj	UTSW	4	98569078	missense	probably damaging	0.96
R7040:Patj	UTSW	4	98441080	missense	probably benign	0.02
R7052:Patj	UTSW	4	98677260	missense	probably benign	0.03
R7066:Patj	UTSW	4	98413197	missense	probably benign	0.24
R7236:Patj	UTSW	4	98411057	missense	probably damaging	1.00
R7242:Patj	UTSW	4	98591933	missense	probably benign	0.26
R7260:Patj	UTSW	4	98416733	missense	possibly damaging	0.94
R7412:Patj	UTSW	4	98411139	missense	probably damaging	0.98
R7493:Patj	UTSW	4	98495061	missense	probably benign	0.41
R7570:Patj	UTSW	4	98424500	splice site	probably null
R7571:Patj	UTSW	4	98568980	missense	probably damaging	1.00
R7626:Patj	UTSW	4	98546987	missense	probably benign	0.35
R7658:Patj	UTSW	4	98688179	missense	probably damaging	1.00
R7664:Patj	UTSW	4	98496950	missense	possibly damaging	0.92
R7669:Patj	UTSW	4	98518942	missense	probably damaging	1.00
R7796:Patj	UTSW	4	98546983	start codon destroyed	probably benign	0.05
R7870:Patj	UTSW	4	98424316	missense	probably damaging	1.00
R7883:Patj	UTSW	4	98611135	missense	probably benign	0.00
R7948:Patj	UTSW	4	98424310	missense	probably damaging	0.99
R8050:Patj	UTSW	4	98538964	missense	probably benign	0.00
R8483:Patj	UTSW	4	98424302	missense	probably damaging	1.00
R8546:Patj	UTSW	4	98437397	missense	probably benign	0.00
Z1176:Patj	UTSW	4	98611130	missense	probably benign	0.11
Z1176:Patj	UTSW	4	98676318	nonsense	probably null
Z1177:Patj	UTSW	4	98497174	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTTTGTCGTGGTTCAACCC -3'
(R):5'- AGTCTGACTGTGTATGCCAC -3'

Sequencing Primer
(F):5'- GTCGTGGTTCAACCCTTTTCAC -3'
(R):5'- TGTATGCCACACCATATTAACTACAG -3'

Posted On

2014-09-18