Mutagenetix > Incidental Mutation

Incidental Mutation 'R1880:Patj'

209022

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Cipp, Inadl

MMRRC Submission

039901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1880 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98284022-98607840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98385477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 364 (P364S)

Ref Sequence

ENSEMBL: ENSMUSP00000102644 (fasta)

Gene Model

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

AlphaFold

Q63ZW7

Predicted Effect

probably benign
Transcript: ENSMUST00000041284
AA Change: P937S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: P937S

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: ENSMUST00000107029
AA Change: P364S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: P364S

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

unknown
Transcript: ENSMUST00000107033
AA Change: P605S

SMART Domains

Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859
AA Change: P605S

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
AA Change: P933S

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

SMART Domains

Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: P933S

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: ENSMUST00000135606

Predicted Effect

unknown
Transcript: ENSMUST00000142103
AA Change: P415S

SMART Domains

Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: P415S

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.2%

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
Afdn	A	G	17: 14,072,615 (GRCm39)	D846G	possibly damaging	Het
Arhgef5	C	A	6: 43,250,022 (GRCm39)	Q258K	possibly damaging	Het
Atp10b	G	T	11: 43,150,259 (GRCm39)	G1319V	probably damaging	Het
Axl	T	C	7: 25,473,973 (GRCm39)	T315A	probably damaging	Het
Brd10	C	A	19: 29,695,523 (GRCm39)	L1323F	probably benign	Het
Btnl2	A	G	17: 34,584,337 (GRCm39)	E420G	possibly damaging	Het
Capn2	A	G	1: 182,316,581 (GRCm39)	W293R	probably damaging	Het
Cd209f	A	G	8: 4,155,464 (GRCm39)		probably null	Het
Cltc	A	G	11: 86,603,457 (GRCm39)	Y790H	probably damaging	Het
Col1a1	A	G	11: 94,841,394 (GRCm39)	K1259R	unknown	Het
Dpysl3	A	T	18: 43,462,939 (GRCm39)		probably null	Het
Dus4l	T	C	12: 31,690,869 (GRCm39)	I261V	probably benign	Het
Ell3	T	C	2: 121,270,792 (GRCm39)	D247G	probably benign	Het
Erg	G	A	16: 95,178,168 (GRCm39)	T246I	probably benign	Het
Eva1c	T	C	16: 90,694,303 (GRCm39)	I196T	possibly damaging	Het
Fbxo43	T	C	15: 36,162,661 (GRCm39)	D182G	probably benign	Het
Frrs1	T	C	3: 116,690,444 (GRCm39)		probably null	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gata4	G	T	14: 63,442,144 (GRCm39)	P20Q	probably damaging	Het
Gmnc	T	C	16: 26,784,361 (GRCm39)	D48G	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Habp2	A	G	19: 56,306,260 (GRCm39)	I481V	possibly damaging	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Hnrnpul1	A	G	7: 25,432,523 (GRCm39)	V380A	possibly damaging	Het
Hspa2	G	A	12: 76,452,694 (GRCm39)	D463N	possibly damaging	Het
Itga11	A	G	9: 62,585,231 (GRCm39)	D2G	probably benign	Het
Kel	G	A	6: 41,664,479 (GRCm39)	L653F	possibly damaging	Het
Lgr5	T	C	10: 115,288,184 (GRCm39)	Y748C	probably damaging	Het
Lpxn	A	G	19: 12,781,452 (GRCm39)	K57E	probably benign	Het
Ltbp2	G	T	12: 84,876,045 (GRCm39)	H501N	probably benign	Het
Macf1	G	A	4: 123,332,384 (GRCm39)	A2419V	probably damaging	Het
Map3k12	A	G	15: 102,410,499 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,034,285 (GRCm39)	V668I	possibly damaging	Het
Mmp10	T	C	9: 7,505,575 (GRCm39)	S280P	probably benign	Het
Neb	C	A	2: 52,148,743 (GRCm39)	M2601I	probably damaging	Het
Nsd1	T	A	13: 55,361,606 (GRCm39)	N191K	probably damaging	Het
Or2w1	A	T	13: 21,317,802 (GRCm39)	N286Y	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Or5w14	C	A	2: 87,541,639 (GRCm39)	G204C	probably damaging	Het
Or6c214	A	G	10: 129,591,290 (GRCm39)	F10L	probably benign	Het
Pex1	T	C	5: 3,655,770 (GRCm39)	V39A	probably benign	Het
Pira13	C	T	7: 3,827,950 (GRCm39)		probably null	Het
Pkhd1l1	A	T	15: 44,388,638 (GRCm39)	I1332F	probably benign	Het
Polq	T	C	16: 36,906,954 (GRCm39)	V2026A	possibly damaging	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Ppp4r4	T	A	12: 103,571,294 (GRCm39)	Y678N	possibly damaging	Het
Rpf2	T	C	10: 40,109,154 (GRCm39)	D95G	possibly damaging	Het
Sema3c	A	T	5: 17,932,464 (GRCm39)	K656*	probably null	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Snap25	G	A	2: 136,619,305 (GRCm39)	V153M	probably damaging	Het
Snrnp70	T	C	7: 45,026,786 (GRCm39)		probably null	Het
Tas2r144	C	T	6: 42,193,004 (GRCm39)	T248I	probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Usp38	T	C	8: 81,727,695 (GRCm39)	E346G	probably damaging	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r91	A	T	7: 19,835,698 (GRCm39)	S206C	probably damaging	Het
Vps36	T	C	8: 22,703,578 (GRCm39)		probably null	Het
Wdfy3	T	C	5: 102,065,301 (GRCm39)	N1289S	probably benign	Het
Zfp759	T	C	13: 67,287,276 (GRCm39)	C276R	probably damaging	Het
Zkscan17	G	A	11: 59,378,455 (GRCm39)	Q243*	probably null	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
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'- TTATCAAGATCACCTCCGGGCC -3'
(R):5'- TTCCAGAGAAGCGGTGAGAC -3'

Sequencing Primer
(F):5'- TCCGGGCCATGGAGTCAAAC -3'
(R):5'- AGGACACAGCTCAGCTCCTG -3'

Posted On

2014-06-30