Mutagenetix > Incidental Mutation

Incidental Mutation 'R3712:Pard3b'

259638

Institutional Source

Beutler Lab

Gene Symbol

Pard3b

Ensembl Gene

ENSMUSG00000052062

Gene Name

par-3 family cell polarity regulator beta

Synonyms

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

MMRRC Submission

040705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62343978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 744 (S744P)

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: S682P

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

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: S682P

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: S744P

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: S744P

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: S744P

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: S744P

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

Meta Mutation Damage Score

0.1685

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	C	A	16: 88,627,523	V27F	unknown	Het
Akr1c20	T	C	13: 4,510,223	E152G	probably damaging	Het
Alx4	G	A	2: 93,642,789	G44D	possibly damaging	Het
Arhgap31	T	A	16: 38,602,533	E1057V	possibly damaging	Het
Arhgef26	A	T	3: 62,423,629	D588V	probably damaging	Het
Bag2	T	A	1: 33,746,916	E108D	probably benign	Het
Ccdc162	C	T	10: 41,587,379	V183I	probably benign	Het
Ccdc58	T	C	16: 36,081,405		probably null	Het
Ccdc83	A	G	7: 90,236,355		probably benign	Het
Ccnyl1	G	A	1: 64,714,668	E137K	probably damaging	Het
Celsr2	T	C	3: 108,400,839	T1849A	probably benign	Het
Cep192	C	A	18: 67,820,329	D472E	probably benign	Het
Cep57l1	A	G	10: 41,743,114	Y86H	probably damaging	Het
Cep95	G	T	11: 106,811,286	E370*	probably null	Het
Cldn10	A	G	14: 118,855,110	T41A	probably damaging	Het
Clptm1l	T	A	13: 73,616,038	Y426N	probably benign	Het
Eps15	T	C	4: 109,309,177	V89A	probably damaging	Het
Fam53b	A	G	7: 132,759,925	S125P	probably damaging	Het
Fam69b	T	C	2: 26,632,638	L33S	possibly damaging	Het
Fbxo44	A	T	4: 148,156,004	W256R	probably benign	Het
Gnl2	T	C	4: 125,046,274	V313A	probably damaging	Het
Hyal4	A	G	6: 24,756,514	R244G	probably damaging	Het
Irf6	G	T	1: 193,162,623	W134L	probably benign	Het
Kcnu1	A	G	8: 25,881,420	T286A	probably damaging	Het
Lpcat2	T	C	8: 92,918,170	V529A	possibly damaging	Het
Lrfn2	A	G	17: 49,071,160	E423G	possibly damaging	Het
Lrp8	G	T	4: 107,848,302	R209L	probably benign	Het
Mgll	T	C	6: 88,764,588		probably benign	Het
Mta3	A	G	17: 83,762,988	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,209,719	V909I	possibly damaging	Het
Olfr121	T	A	17: 37,752,380	C175*	probably null	Het
Olfr411	A	T	11: 74,347,197	I129N	probably damaging	Het
Olfr490	A	T	7: 108,286,456	Y223*	probably null	Het
Olfr776	A	T	10: 129,261,224	K88*	probably null	Het
Orc1	T	C	4: 108,604,021	V526A	probably damaging	Het
Pcnx3	G	A	19: 5,683,339	Q155*	probably null	Het
Pcnx3	C	G	19: 5,683,340	L1F	probably null	Het
Pdcd11	T	A	19: 47,127,245		probably benign	Het
Pi4k2a	G	A	19: 42,090,692	R64Q	probably damaging	Het
Pigt	A	G	2: 164,501,645	D347G	probably benign	Het
Rbm27	T	C	18: 42,292,112		probably benign	Het
Rpl7a-ps10	A	G	9: 97,179,873	E232G	probably damaging	Het
Rprd2	A	G	3: 95,764,560	L1177P	probably damaging	Het
Rrn3	T	A	16: 13,784,095	L71*	probably null	Het
Sbspon	A	G	1: 15,892,445	C70R	probably damaging	Het
Smtn	A	T	11: 3,532,865		probably null	Het
Son	A	G	16: 91,656,726	D787G	probably damaging	Het
Sphkap	C	T	1: 83,277,112	S972N	probably benign	Het
Spopl	C	T	2: 23,537,380	R221Q	probably damaging	Het
Srp14	A	C	2: 118,478,959	L58V	probably null	Het
Sun2	A	G	15: 79,727,913	S522P	possibly damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Trdn	T	C	10: 33,157,166	I129T	probably benign	Het
Trpv3	A	G	11: 73,278,954	K117R	probably benign	Het
Ubqlnl	A	T	7: 104,149,138	I384N	probably benign	Het
Ush2a	G	A	1: 188,810,292	G3352S	probably benign	Het
Vmn1r59	A	T	7: 5,454,638	I41K	probably damaging	Het
Vmn2r125	T	A	4: 156,350,124	Y68*	probably null	Het
Zpld1	A	T	16: 55,226,436	L390*	probably null	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
IGL02232:Pard3b	APN	1	62166382	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTCATCTAAAATCTTACCACAGCTG -3'
(R):5'- TGAGATGAAGAGCCCACTTAAG -3'

Sequencing Primer
(F):5'- TTTCAGAGATGGCAGCCTAC -3'
(R):5'- CCCACTTAAGGGGGCATATG -3'

Posted On

2015-01-23