Mutagenetix > Incidental Mutation

Incidental Mutation 'R8483:Patj'

657611

Institutional Source

Beutler Lab

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Cipp, Inadl

MMRRC Submission

067927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98284022-98607840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98312539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 292 (H292Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102649 (fasta)

Gene Model

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

AlphaFold

Q63ZW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041284
AA Change: H292Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: H292Q

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 damaging
Transcript: ENSMUST00000107030
AA Change: H292Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102645
Gene: ENSMUSG00000061859
AA Change: H292Q

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 damaging
Transcript: ENSMUST00000107033
AA Change: H292Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859
AA Change: H292Q

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 damaging
Transcript: ENSMUST00000107034
AA Change: H292Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: H292Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	A	G	14: 44,239,285 (GRCm39)	*148Q	probably null	Het
Ankrd28	A	T	14: 31,457,048 (GRCm39)		probably null	Het
Ark2c	G	A	18: 77,556,034 (GRCm39)	A174V	probably benign	Het
Aurkc	T	A	7: 6,999,664 (GRCm39)	L57*	probably null	Het
Brca1	T	C	11: 101,416,802 (GRCm39)	D444G	probably damaging	Het
Cd200l1	T	A	16: 45,240,235 (GRCm39)	I134F	possibly damaging	Het
Cdhr4	T	C	9: 107,872,198 (GRCm39)	V204A	probably damaging	Het
Chd7	A	G	4: 8,822,412 (GRCm39)	D835G	possibly damaging	Het
Cux1	C	A	5: 136,303,944 (GRCm39)	A1328S	possibly damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp39a1	A	G	17: 43,993,898 (GRCm39)	D186G	probably benign	Het
Dnah3	T	C	7: 119,536,253 (GRCm39)	I3677V	probably benign	Het
Dnmt3b	A	G	2: 153,516,306 (GRCm39)	D477G	probably damaging	Het
Drc1	A	T	5: 30,507,785 (GRCm39)	Y269F	probably benign	Het
Esco2	T	C	14: 66,069,118 (GRCm39)	H64R	probably benign	Het
Gcnt3	A	T	9: 69,941,959 (GRCm39)	V203E	probably damaging	Het
Gpam	A	C	19: 55,077,374 (GRCm39)	V139G	probably damaging	Het
Gsta3	G	A	1: 21,333,063 (GRCm39)	S104N	probably damaging	Het
Hsd17b13	C	T	5: 104,125,049 (GRCm39)	G45R	probably damaging	Het
Ighe	T	C	12: 113,235,808 (GRCm39)	M173V		Het
Ipo5	A	G	14: 121,183,560 (GRCm39)	E1046G	probably benign	Het
Kank4	T	A	4: 98,659,615 (GRCm39)	Q821L	probably damaging	Het
Kat6b	G	T	14: 21,719,461 (GRCm39)	S1271I	probably damaging	Het
Klhl1	A	G	14: 96,619,370 (GRCm39)	S176P	probably benign	Het
Lbhd2	G	A	12: 111,378,190 (GRCm39)	D86N	probably damaging	Het
Lrp1	G	A	10: 127,394,519 (GRCm39)	R2565C	probably damaging	Het
Lrrc55	A	T	2: 85,022,295 (GRCm39)	C299S	probably benign	Het
Mtres1	T	C	10: 43,408,915 (GRCm39)	Y76C	probably benign	Het
Nprl3	T	A	11: 32,213,083 (GRCm39)	S44C	probably damaging	Het
Nucks1	A	G	1: 131,855,829 (GRCm39)	H86R	possibly damaging	Het
Or14j3	A	G	17: 37,900,866 (GRCm39)	V126A	possibly damaging	Het
Or4s2	A	G	2: 88,473,678 (GRCm39)	D189G	probably benign	Het
Or6c219	T	A	10: 129,780,998 (GRCm39)	H311L	probably benign	Het
Ovgp1	T	A	3: 105,894,311 (GRCm39)		probably benign	Het
Oxa1l	G	A	14: 54,606,001 (GRCm39)		probably null	Het
Pcdha9	A	G	18: 37,131,636 (GRCm39)	N235S	probably benign	Het
Pcdhb12	A	T	18: 37,570,590 (GRCm39)	T579S	possibly damaging	Het
Pde3b	A	G	7: 114,118,803 (GRCm39)	I647M	probably benign	Het
Pdp1	T	C	4: 11,961,982 (GRCm39)	R110G	probably benign	Het
Prb1a	T	G	6: 132,185,398 (GRCm39)	R78S	unknown	Het
Prmt8	A	C	6: 127,680,976 (GRCm39)		probably null	Het
Semp2l2a	T	A	8: 13,888,229 (GRCm39)		probably benign	Het
Slc35f2	T	A	9: 53,716,985 (GRCm39)	Y249*	probably null	Het
Smok2b	A	C	17: 13,453,908 (GRCm39)	M23L	probably benign	Het
Sra1	A	G	18: 36,800,879 (GRCm39)	I153T	probably benign	Het
Stk38l	T	A	6: 146,660,017 (GRCm39)	H16Q	possibly damaging	Het
Tent5c	T	A	3: 100,379,784 (GRCm39)	H324L	probably damaging	Het
Unc80	T	C	1: 66,732,869 (GRCm39)	S3073P	possibly damaging	Het
Usp24	T	C	4: 106,230,953 (GRCm39)	I844T	probably damaging	Het
V1ra8	A	T	6: 90,179,916 (GRCm39)	I40F	probably benign	Het
Vmn2r88	T	A	14: 51,650,530 (GRCm39)	M81K	possibly damaging	Het
Vps8	T	C	16: 21,393,763 (GRCm39)	I1182T	probably damaging	Het
Wdr54	A	G	6: 83,130,591 (GRCm39)	V181A	probably benign	Het
Zbed4	A	G	15: 88,665,990 (GRCm39)	Y686C	probably damaging	Het
Zfyve28	T	C	5: 34,393,480 (GRCm39)	N62S	possibly damaging	Het
Zic1	T	C	9: 91,246,424 (GRCm39)	Y216C	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
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
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'- CTTTATCTTTTGCCAGCTGAGTAG -3'
(R):5'- CTATACTCACAGAATCAAGGGTCC -3'

Sequencing Primer
(F):5'- TGCCAGCTGAGTAGATCATTAG -3'
(R):5'- CAAGGGTCCTTGTGGCTACAG -3'

Posted On

2021-01-18