Mutagenetix > Incidental Mutations

Incidental Mutation 'R3913:Patj'

309497

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Inadl, Cipp

MMRRC Submission

040911-MU

Accession Numbers

Genbank: NM_172696; MGI: 1277960

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98395785-98719603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98569101 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1280 (D1280G)

Ref Sequence

ENSEMBL: ENSMUSP00000102649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030290] [ENSMUST00000041284] [ENSMUST00000102792] [ENSMUST00000107029] [ENSMUST00000107034]

Predicted Effect

probably benign
Transcript: ENSMUST00000030290
AA Change: D62G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030290
Gene: ENSMUSG00000061859
AA Change: D62G

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 damaging
Transcript: ENSMUST00000041284
AA Change: D1284G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: D1284G

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
AA Change: D62G

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099854
Gene: ENSMUSG00000061859
AA Change: D62G

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 damaging
Transcript: ENSMUST00000107029
AA Change: D711G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: D711G

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 damaging
Transcript: ENSMUST00000107034
AA Change: D1280G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: D1280G

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

Meta Mutation Damage Score

0.8592

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
Adh7	T	A	3: 138,221,780	V29E	probably damaging	Het
Adra1d	T	A	2: 131,562,155	D5V	probably damaging	Het
Arid1b	A	G	17: 5,342,257	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,573,613	R462*	probably null	Het
Cchcr1	T	C	17: 35,525,336	V341A	probably damaging	Het
Crybg1	T	C	10: 43,998,763	D783G	possibly damaging	Het
Dcaf15	T	C	8: 84,099,165	Y271C	probably damaging	Het
Dcun1d2	A	C	8: 13,281,082	M16R	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Dnttip2	T	C	3: 122,275,391	V85A	possibly damaging	Het
Eprs	G	A	1: 185,379,742		probably null	Het
Exoc7	T	C	11: 116,306,905	D27G	probably benign	Het
Gdpd5	A	G	7: 99,438,339	D70G	probably null	Het
Glyr1	A	G	16: 5,031,913	F199L	probably damaging	Het
Golga4	T	A	9: 118,538,971	M414K	probably damaging	Het
Gpr132	C	A	12: 112,853,020	W62L	probably benign	Het
Gpr179	A	T	11: 97,334,765	V2188E	probably benign	Het
Ilf3	C	T	9: 21,398,126	A526V	possibly damaging	Het
Ints10	T	A	8: 68,813,620	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,395,232	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,296,470	T317I	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhl30	T	C	1: 91,359,444	V484A	possibly damaging	Het
Krt90	G	A	15: 101,562,783	R15W	probably damaging	Het
Liph	G	T	16: 21,962,259		probably benign	Het
Lrrc7	G	A	3: 158,291,952	L158F	probably damaging	Het
Maml1	T	C	11: 50,263,432	T602A	probably benign	Het
Mast4	A	G	13: 102,758,669	L782P	probably damaging	Het
Mei4	A	G	9: 81,890,263	K43R	probably benign	Het
Mettl4	A	G	17: 94,740,532	V227A	probably benign	Het
Mst1r	G	A	9: 107,914,746	R827Q	probably benign	Het
Olfm1	A	G	2: 28,208,174	T83A	possibly damaging	Het
Olfr1022	T	C	2: 85,868,771	Y60H	probably damaging	Het
Olfr390	G	T	11: 73,787,696	G253W	probably damaging	Het
Parp4	A	G	14: 56,620,518	E869G	probably damaging	Het
Pate4	C	A	9: 35,611,844	M1I	probably null	Het
Ppargc1b	T	C	18: 61,311,376	S255G	probably damaging	Het
Rev3l	A	G	10: 39,820,556	I521M	probably damaging	Het
Rlim	T	C	X: 103,962,661	T545A	probably benign	Het
Robo2	A	T	16: 74,035,005	D262E	probably damaging	Het
Sec14l5	A	G	16: 5,147,856		probably benign	Het
Sema4b	A	G	7: 80,220,474	S467G	probably benign	Het
Setd2	C	T	9: 110,551,046	R1310C	probably damaging	Het
Sh3d19	T	C	3: 86,084,776	I37T	probably damaging	Het
Slc23a3	T	A	1: 75,128,922	I422F	probably benign	Het
Snap91	T	C	9: 86,792,557	T534A	possibly damaging	Het
Son	A	T	16: 91,660,111		probably benign	Het
Tnks	A	T	8: 34,873,074	S463R	probably damaging	Het
Tubb3	A	G	8: 123,421,009	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,259,035	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,734,743	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,226,723	L311P	possibly damaging	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
R2090:Patj	UTSW	4	98437323	unclassified	probably benign
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
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'- TCCTTAATGCAGACTCATGCTC -3'
(R):5'- GGCTATGTGACCCTAACAAGTTAC -3'

Sequencing Primer
(F):5'- AAGATATGCAGACCTGCC -3'
(R):5'- GATGGCTCAAGCTCACTATGTAGC -3'

Posted On

2015-04-17