Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Pard3b'

480591

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

044176-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61638824-62642284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62076409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 140 (S140I)

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: S140I

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

SMART Domains

Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: S140I

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: S140I

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

SMART Domains

Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: S140I

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: S140I

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

SMART Domains

Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: S140I

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: ENSMUST00000138768

SMART Domains

Protein: ENSMUSP00000116912
Gene: ENSMUSG00000052062

Domain	Start	End	E-Value	Type
Pfam:DUF3534	1	143	7e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188325

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,373	D38V	probably benign	Het
Abcb9	A	T	5: 124,089,815	V121E	possibly damaging	Het
Adamts20	T	A	15: 94,379,747	Y278F	probably damaging	Het
Adcy7	A	T	8: 88,326,392	D972V	probably benign	Het
Adgrf3	C	A	5: 30,198,362		probably null	Het
Ahdc1	G	T	4: 133,063,895	G816C	probably benign	Het
Aifm3	A	G	16: 17,502,130	K283E	probably benign	Het
Akap6	T	C	12: 52,937,233		probably null	Het
Ank1	T	C	8: 23,099,662	L593P	probably damaging	Het
Apol11b	T	A	15: 77,635,497	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,616,085	T235K	probably damaging	Het
Camk2a	A	T	18: 60,977,957	I73F	probably damaging	Het
Cd109	G	T	9: 78,705,062	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,769,463	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,604,575	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,496,100	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,459,391	K405*	probably null	Het
Dchs1	T	C	7: 105,754,095	D3080G	probably benign	Het
Ddx1	T	C	12: 13,237,799	D168G	probably damaging	Het
Dhx57	T	G	17: 80,245,806	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,770,105	N3640D	probably benign	Het
Dock4	T	A	12: 40,755,834	L935Q	probably damaging	Het
Dus2	A	T	8: 106,046,066	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,689,108	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,583,185	T269M	probably damaging	Het
Fam71f2	T	A	6: 29,290,424	L267*	probably null	Het
Fbxo43	T	C	15: 36,162,093	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061	H233R	probably benign	Het
Ftsj3	A	T	11: 106,252,251	D412E	probably damaging	Het
Fzd7	A	T	1: 59,484,544	M529L	probably benign	Het
Fzr1	T	A	10: 81,370,826		probably null	Het
Ganc	T	G	2: 120,430,605	V257G	possibly damaging	Het
Gm4131	T	C	14: 62,464,758	K254E	probably damaging	Het
Gm6583	C	T	5: 112,355,008	V277M	possibly damaging	Het
Gm7347	G	T	5: 26,057,249	Y91*	probably null	Het
Gm9857	G	A	3: 108,940,165		probably benign	Het
Grpel1	T	C	5: 36,465,248	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,833,711	K670E	possibly damaging	Het
Hist1h2bf	G	A	13: 23,574,103		probably benign	Het
Hmcn1	G	T	1: 150,704,173	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,399,157	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,767,979	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,663,704	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,335,914	T92S	possibly damaging	Het
Krt8	C	T	15: 102,000,594	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,480,388	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,701,028	L135S	probably benign	Het
Lrguk	A	G	6: 34,129,143	Y701C	probably damaging	Het
Mcc	G	T	18: 44,449,321	L588M	probably damaging	Het
Mcidas	T	A	13: 112,998,586	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,280,614	L208Q	probably damaging	Het
Myof	A	G	19: 37,905,299	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 107,182,496	T300K	probably benign	Het
Olfr1474	A	G	19: 13,471,506	I179V	probably benign	Het
Olfr165	T	A	16: 19,407,944	H24L	probably benign	Het
Olfr716	A	T	7: 107,147,328	E4V	possibly damaging	Het
Olfr890	A	T	9: 38,143,801	Y217F	probably damaging	Het
Orc2	A	G	1: 58,472,388	I354T	probably damaging	Het
Pcgf5	A	G	19: 36,434,603	D49G	probably benign	Het
Pcsk6	T	C	7: 65,959,293	F388S	probably damaging	Het
Prokr2	A	C	2: 132,381,442	I60S	probably damaging	Het
Rab33b	A	G	3: 51,484,479	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,719,389	D61G	probably damaging	Het
Rhcg	T	A	7: 79,600,514	K274*	probably null	Het
Rnf112	C	T	11: 61,451,022	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,682,800	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,722,058	D168G	probably damaging	Het
Sik2	A	G	9: 50,895,342		probably null	Het
Slco1a5	T	A	6: 142,253,113	L275F	probably benign	Het
Smtnl1	T	C	2: 84,815,378	H383R	probably damaging	Het
Spns3	T	G	11: 72,539,078	T175P	probably damaging	Het
Togaram1	A	G	12: 64,995,538	T1174A	probably benign	Het
Tradd	C	T	8: 105,260,645	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,373,560	Y579N	probably damaging	Het
Uncx	G	A	5: 139,547,589	G470R	probably damaging	Het
Vav3	T	A	3: 109,501,461	M177K	probably damaging	Het
Wfs1	A	T	5: 36,967,750	I599N	probably damaging	Het
Zfp454	G	A	11: 50,873,622	H217Y	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
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
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
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'- GTGTATGCATGCTACCCTACCTAG -3'
(R):5'- GCATTTCATCAAAAGGCCTGTATC -3'

Sequencing Primer
(F):5'- TATGCATGCTACCCTACCTAGAGAAG -3'
(R):5'- AGGCCTGTATCTAATTATCAGCTC -3'

Posted On

2017-06-26