Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Patj'

546986

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Cipp, Inadl

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98284022-98607840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98329317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 524 (S524P)

Ref Sequence

ENSEMBL: ENSMUSP00000102648 (fasta)

Gene Model

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

AlphaFold

Q63ZW7

Predicted Effect

probably benign
Transcript: ENSMUST00000041284
AA Change: S524P

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

SMART Domains

Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: S524P

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
AA Change: S524P

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

SMART Domains

Protein: ENSMUSP00000102645
Gene: ENSMUSG00000061859
AA Change: S524P

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
AA Change: S524P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859
AA Change: S524P

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: S520P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: S520P

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

SMART Domains

Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: S2P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 127,835,897 (GRCm39)	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,178,104 (GRCm39)	V312A	probably damaging	Het
Bmp2	A	G	2: 133,403,604 (GRCm39)	D385G	probably damaging	Het
C1qtnf9	T	C	14: 61,017,241 (GRCm39)	V257A	probably damaging	Het
Cd3d	G	A	9: 44,896,991 (GRCm39)	V122I	probably damaging	Het
Cdc37	T	C	9: 21,053,519 (GRCm39)	E199G	probably damaging	Het
Crb2	T	A	2: 37,677,696 (GRCm39)	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,318,781 (GRCm39)	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,520,184 (GRCm39)	D472A	probably damaging	Het
Dab2	A	C	15: 6,451,732 (GRCm39)	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,275,969 (GRCm39)	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,584,909 (GRCm39)	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,184,040 (GRCm39)	V521G	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,403,196 (GRCm39)	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362 (GRCm39)	S101G	probably damaging	Het
Kif15	T	A	9: 122,840,679 (GRCm39)	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,936,158 (GRCm39)	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,104,909 (GRCm39)	*123R	probably null	Het
Map4k3	A	C	17: 80,988,344 (GRCm39)	V36G	probably damaging	Het
Mme	T	A	3: 63,276,344 (GRCm39)	I707N	probably damaging	Het
Muc2	A	G	7: 141,305,194 (GRCm39)	E166G	unknown	Het
Mucl1	T	A	15: 103,783,844 (GRCm39)	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,497,805 (GRCm39)	D53V	possibly damaging	Het
Naa15	T	A	3: 51,380,205 (GRCm39)	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,525,267 (GRCm39)	T1487A	probably benign	Het
Nme8	A	T	13: 19,878,498 (GRCm39)	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,444,374 (GRCm39)	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,881,974 (GRCm39)	F291Y	possibly damaging	Het
Ooep	T	C	9: 78,285,683 (GRCm39)	N43S	possibly damaging	Het
Or10ak13	T	C	4: 118,639,183 (GRCm39)	M200V	probably benign	Het
Or4e1	T	C	14: 52,700,932 (GRCm39)	D178G	possibly damaging	Het
Or52i2	A	T	7: 102,319,937 (GRCm39)	Q270L	probably benign	Het
Or52n2c	A	T	7: 104,574,717 (GRCm39)	C85S	probably benign	Het
Ovch2	A	T	7: 107,395,772 (GRCm39)	I82N	probably damaging	Het
Palb2	A	T	7: 121,713,622 (GRCm39)	M524K	possibly damaging	Het
Patl1	T	A	19: 11,907,318 (GRCm39)	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,637,770 (GRCm39)	T99S	probably benign	Het
Plcb4	G	A	2: 135,774,182 (GRCm39)	A155T	probably benign	Het
Rpap3	A	G	15: 97,576,993 (GRCm39)	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spen	T	A	4: 141,221,693 (GRCm39)	T302S	unknown	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Ube2o	T	C	11: 116,432,686 (GRCm39)	E760G	probably benign	Het
Uimc1	T	A	13: 55,223,267 (GRCm39)		probably null	Het
Usp16	C	T	16: 87,277,817 (GRCm39)	A689V	probably damaging	Het
Vmn2r60	G	A	7: 41,791,666 (GRCm39)	A530T	probably benign	Het
Vps8	T	A	16: 21,393,772 (GRCm39)	M1185K	probably damaging	Het
Vwa8	T	C	14: 79,149,645 (GRCm39)	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,967,529 (GRCm39)	N175S	probably benign	Het
Zfp160	A	T	17: 21,246,794 (GRCm39)	H448L	probably damaging	Het
Zfp90	T	A	8: 107,151,641 (GRCm39)	C451*	probably null	Het
Zfp945	A	G	17: 23,071,264 (GRCm39)	C212R	probably 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
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
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'- AGCCCCTTTACAGTTTAACCAC -3'
(R):5'- GAAAACAATAAAGGCAGTCTGTGTC -3'

Sequencing Primer
(F):5'- TATTAGTCTCGCAAGCCACTGGG -3'
(R):5'- AGTCTGTGTCTGCTTTGACTC -3'

Posted On

2019-05-13