Mutagenetix > Incidental Mutation

Incidental Mutation 'R3913:Patj'

309497

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Cipp, Inadl

MMRRC Submission

040911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98284022-98607840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98457338 bp (GRCm39)

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]

AlphaFold

Q63ZW7

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
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Adra1d	T	A	2: 131,404,075 (GRCm39)	D5V	probably damaging	Het
Arid1b	A	G	17: 5,392,532 (GRCm39)	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,880,608 (GRCm39)	R462*	probably null	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,874,759 (GRCm39)	D783G	possibly damaging	Het
Dcaf15	T	C	8: 84,825,794 (GRCm39)	Y271C	probably damaging	Het
Dcun1d2	A	C	8: 13,331,082 (GRCm39)	M16R	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,069,040 (GRCm39)	V85A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Gdpd5	A	G	7: 99,087,546 (GRCm39)	D70G	probably null	Het
Glyr1	A	G	16: 4,849,777 (GRCm39)	F199L	probably damaging	Het
Golga4	T	A	9: 118,368,039 (GRCm39)	M414K	probably damaging	Het
Gpr132	C	A	12: 112,816,640 (GRCm39)	W62L	probably benign	Het
Gpr179	A	T	11: 97,225,591 (GRCm39)	V2188E	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,479,689 (GRCm39)	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl30	T	C	1: 91,287,166 (GRCm39)	V484A	possibly damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Liph	G	T	16: 21,781,009 (GRCm39)		probably benign	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Maml1	T	C	11: 50,154,259 (GRCm39)	T602A	probably benign	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mei4	A	G	9: 81,772,316 (GRCm39)	K43R	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mst1r	G	A	9: 107,791,945 (GRCm39)	R827Q	probably benign	Het
Olfm1	A	G	2: 28,098,186 (GRCm39)	T83A	possibly damaging	Het
Or1e30	G	T	11: 73,678,522 (GRCm39)	G253W	probably damaging	Het
Or5m10b	T	C	2: 85,699,115 (GRCm39)	Y60H	probably damaging	Het
Parp4	A	G	14: 56,857,975 (GRCm39)	E869G	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Ppargc1b	T	C	18: 61,444,447 (GRCm39)	S255G	probably damaging	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Robo2	A	T	16: 73,831,893 (GRCm39)	D262E	probably damaging	Het
Sec14l5	A	G	16: 4,965,720 (GRCm39)		probably benign	Het
Sema4b	A	G	7: 79,870,222 (GRCm39)	S467G	probably benign	Het
Setd2	C	T	9: 110,380,114 (GRCm39)	R1310C	probably damaging	Het
Sh3d19	T	C	3: 85,992,083 (GRCm39)	I37T	probably damaging	Het
Slc23a3	T	A	1: 75,105,566 (GRCm39)	I422F	probably benign	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Son	A	T	16: 91,456,999 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,340,228 (GRCm39)	S463R	probably damaging	Het
Tubb3	A	G	8: 124,147,748 (GRCm39)	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,287,876 (GRCm39)	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,044,587 (GRCm39)	L311P	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
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'- TCCTTAATGCAGACTCATGCTC -3'
(R):5'- GGCTATGTGACCCTAACAAGTTAC -3'

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

Posted On

2015-04-17