Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Pard3b'

285754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

PAR3beta, 1810008K04Rik, 2810455B10Rik, PAR3B, 2010002N16Rik, Als2cr19, PAR3L

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62166382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 445 (T445I)

Ref Sequence

ENSEMBL: ENSMUSP00000092510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046673] [ENSMUST00000075374] [ENSMUST00000094906]

AlphaFold

Q9CSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046673
AA Change: T445I

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: T445I

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	1.2e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
internal_repeat_1	479	515	4.63e-5	PROSPERO
low complexity region	527	537	N/A	INTRINSIC
low complexity region	594	601	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
coiled coil region	761	808	N/A	INTRINSIC
coiled coil region	839	866	N/A	INTRINSIC
low complexity region	1075	1083	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075374
AA Change: T445I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: T445I

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	8.2e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
low complexity region	487	498	N/A	INTRINSIC
PDZ	507	592	6.17e-15	SMART
low complexity region	656	663	N/A	INTRINSIC
low complexity region	739	750	N/A	INTRINSIC
coiled coil region	823	870	N/A	INTRINSIC
coiled coil region	901	928	N/A	INTRINSIC
low complexity region	1137	1145	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094906
AA Change: T445I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: T445I

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	1.1e-66	PFAM
PDZ	211	291	1.5e-4	SMART
low complexity region	376	388	N/A	INTRINSIC
PDZ	391	470	2.5e-24	SMART
low complexity region	487	498	N/A	INTRINSIC
PDZ	507	592	6.17e-15	SMART
low complexity region	656	663	N/A	INTRINSIC
low complexity region	739	750	N/A	INTRINSIC
coiled coil region	823	870	N/A	INTRINSIC
low complexity region	901	913	N/A	INTRINSIC
low complexity region	1038	1046	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188325

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,664,525	V199A	possibly damaging	Het
Aco1	T	C	4: 40,175,996	M210T	probably damaging	Het
Actr10	G	A	12: 70,943,515	E114K	probably benign	Het
Adam6b	T	C	12: 113,491,144	M527T	probably benign	Het
Ahi1	C	T	10: 20,981,375	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,395,646	W424R	probably damaging	Het
Apeh	A	T	9: 108,091,872	S299T	probably benign	Het
Bbs5	A	C	2: 69,655,551	I147L	probably benign	Het
Bmp2k	T	G	5: 97,031,250		probably benign	Het
C2cd6	A	G	1: 59,062,492	F336S	probably damaging	Het
Ccdc129	A	G	6: 55,967,937	T548A	unknown	Het
Cd274	T	A	19: 29,382,538	L248M	probably damaging	Het
Chsy3	T	A	18: 59,409,311	M507K	possibly damaging	Het
Clip2	T	C	5: 134,503,130	N572S	probably damaging	Het
Commd9	A	G	2: 101,900,979	T170A	probably benign	Het
Cpt1c	G	A	7: 44,960,156	S674L	probably damaging	Het
Dhx33	C	A	11: 70,987,204	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,240	E1583K	probably damaging	Het
Eed	G	T	7: 89,972,285	N51K	probably damaging	Het
Efcab14	A	G	4: 115,760,064		probably benign	Het
Ephb2	A	C	4: 136,657,451	M884R	probably damaging	Het
Foxn2	G	T	17: 88,463,051	A109S	probably benign	Het
Fut1	A	T	7: 45,619,447	D220V	probably damaging	Het
Gm6468	C	T	5: 95,281,207		noncoding transcript	Het
Gm7964	A	T	7: 83,756,307		noncoding transcript	Het
Gm9772	C	T	17: 22,007,050		probably benign	Het
Golph3	G	T	15: 12,349,492	M199I	probably benign	Het
Itpr1	A	G	6: 108,417,923	N1666D	probably damaging	Het
Kif12	C	T	4: 63,166,495	E529K	probably benign	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,466,380	N112I	probably damaging	Het
Msi1	T	A	5: 115,441,447		probably null	Het
Nasp	T	G	4: 116,604,800	E170A	probably damaging	Het
Necab2	T	A	8: 119,462,652	V187E	probably damaging	Het
Obscn	T	C	11: 59,038,978	E5790G	probably damaging	Het
Olfr461	A	G	6: 40,544,046	L311P	probably damaging	Het
Olfr872	A	T	9: 20,260,215	D125V	probably damaging	Het
Pcdh10	A	G	3: 45,380,942	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,520,549	L690Q	probably damaging	Het
Pemt	T	A	11: 59,976,854	T115S	probably damaging	Het
Plcl2	A	G	17: 50,606,641	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,633,342	S750P	probably damaging	Het
Prtg	T	C	9: 72,851,489	V375A	probably damaging	Het
Psd3	A	C	8: 67,904,145	M673R	probably damaging	Het
Ptprt	T	C	2: 161,530,517	I1392V	probably damaging	Het
Rlf	G	A	4: 121,182,614	T200I	probably benign	Het
Robo1	G	A	16: 72,971,984	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,604,351	D87G	possibly damaging	Het
Sema3g	T	C	14: 31,221,224	V148A	probably damaging	Het
Sgms2	G	A	3: 131,323,184	P341S	probably benign	Het
Skint7	A	T	4: 111,982,028	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,436,670	A150V	probably benign	Het
Slc35c2	A	G	2: 165,282,881	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,196,574	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,886,438	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,564	T601I	probably benign	Het
Spink8	A	T	9: 109,820,597	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,175,254	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,353,116	M1K	probably null	Het
Stxbp5l	A	G	16: 37,329,895	L116P	probably damaging	Het
Tlr9	T	C	9: 106,224,937	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,978,753	V108A	probably damaging	Het
Tra2b	A	G	16: 22,249,040		probably benign	Het
Trio	G	T	15: 27,902,561	H271Q	probably benign	Het
Ttn	A	G	2: 76,892,919		probably benign	Het
Usp51	A	T	X: 153,008,673	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,241,811	W355R	probably damaging	Het
Vpreb1	T	C	16: 16,868,739	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zp3r	C	A	1: 130,596,667	C213F	probably damaging	Het

Other mutations in Pard3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Pard3b	APN	1	62161198	missense	probably damaging	0.99
IGL01363:Pard3b	APN	1	62637640	missense	probably damaging	1.00
IGL01509:Pard3b	APN	1	62161248	missense	possibly damaging	0.54
IGL01611:Pard3b	APN	1	62637862	missense	probably damaging	0.96
IGL01651:Pard3b	APN	1	62479804	intron	probably benign
IGL01670:Pard3b	APN	1	62211648	missense	probably damaging	1.00
IGL02156:Pard3b	APN	1	61767950	missense	possibly damaging	0.84
IGL02450:Pard3b	APN	1	62532676	missense	possibly damaging	0.68
IGL03064:Pard3b	APN	1	62198771	splice site	probably benign
R0040:Pard3b	UTSW	1	62637820	missense	probably damaging	1.00
R0040:Pard3b	UTSW	1	62637820	missense	probably damaging	1.00
R0060:Pard3b	UTSW	1	61639315	missense	probably damaging	0.97
R0157:Pard3b	UTSW	1	62211633	missense	probably damaging	0.96
R0333:Pard3b	UTSW	1	62230212	missense	probably benign	0.00
R0448:Pard3b	UTSW	1	62166469	missense	probably damaging	1.00
R0465:Pard3b	UTSW	1	62211718	splice site	probably benign
R0497:Pard3b	UTSW	1	62440008	splice site	probably null
R1264:Pard3b	UTSW	1	62164157	missense	probably damaging	1.00
R1468:Pard3b	UTSW	1	62345029	missense	probably benign	0.00
R1468:Pard3b	UTSW	1	62345029	missense	probably benign	0.00
R1482:Pard3b	UTSW	1	62166367	missense	probably damaging	1.00
R1554:Pard3b	UTSW	1	62637894	missense	probably damaging	0.97
R1836:Pard3b	UTSW	1	62637604	missense	probably benign	0.03
R2005:Pard3b	UTSW	1	62144891	missense	probably benign	0.12
R2220:Pard3b	UTSW	1	62479683	nonsense	probably null
R2435:Pard3b	UTSW	1	62587738	missense	probably damaging	1.00
R3015:Pard3b	UTSW	1	62344878	missense	probably damaging	1.00
R3688:Pard3b	UTSW	1	62479569	missense	probably benign
R3712:Pard3b	UTSW	1	62343978	missense	probably damaging	1.00
R3799:Pard3b	UTSW	1	62161229	missense	probably benign	0.06
R3942:Pard3b	UTSW	1	62159452	missense	probably damaging	1.00
R4683:Pard3b	UTSW	1	62216516	missense	probably benign
R4729:Pard3b	UTSW	1	62211684	missense	probably damaging	1.00
R4898:Pard3b	UTSW	1	61768000	missense	probably damaging	1.00
R4981:Pard3b	UTSW	1	62344060	missense	probably damaging	1.00
R5049:Pard3b	UTSW	1	62161161	missense	probably benign	0.01
R5223:Pard3b	UTSW	1	62344113	missense	probably damaging	1.00
R5476:Pard3b	UTSW	1	62010406	missense	probably benign	0.10
R5541:Pard3b	UTSW	1	61639343	missense	probably damaging	1.00
R5672:Pard3b	UTSW	1	62010466	missense	probably benign	0.11
R5714:Pard3b	UTSW	1	62637916	missense	probably null	0.99
R5722:Pard3b	UTSW	1	62440001	splice site	probably null
R5793:Pard3b	UTSW	1	61767973	missense	probably damaging	1.00
R5930:Pard3b	UTSW	1	61768130	intron	probably benign
R5950:Pard3b	UTSW	1	62216531	missense	probably benign	0.04
R5997:Pard3b	UTSW	1	62076409	missense	probably damaging	1.00
R6646:Pard3b	UTSW	1	62161121	missense	probably benign	0.32
R6720:Pard3b	UTSW	1	62159470	missense	probably damaging	0.99
R6809:Pard3b	UTSW	1	62161181	missense	probably damaging	1.00
R7148:Pard3b	UTSW	1	62440032	missense	probably benign	0.01
R7847:Pard3b	UTSW	1	62343934	missense	probably benign	0.00
R7879:Pard3b	UTSW	1	62159511	missense	possibly damaging	0.65
R8048:Pard3b	UTSW	1	62153989	missense	probably damaging	1.00
R8125:Pard3b	UTSW	1	61767984	missense	probably damaging	1.00
R8329:Pard3b	UTSW	1	62637798	missense	probably benign	0.30
R8766:Pard3b	UTSW	1	62159478	missense	probably benign	0.35
R8833:Pard3b	UTSW	1	62344999	missense	probably benign	0.00
R8889:Pard3b	UTSW	1	62637867	missense	probably damaging	0.97
R8892:Pard3b	UTSW	1	62637867	missense	probably damaging	0.97
R8907:Pard3b	UTSW	1	62344135	missense	probably benign	0.39
R8909:Pard3b	UTSW	1	62344135	missense	probably benign	0.39
R9215:Pard3b	UTSW	1	62164185	missense	probably damaging	1.00
R9310:Pard3b	UTSW	1	62166369	missense	probably damaging	0.99
R9542:Pard3b	UTSW	1	62211627	nonsense	probably null
Z1176:Pard3b	UTSW	1	62238892	missense	probably benign	0.00

Posted On

2015-04-16