Incidental Mutation 'R0497:Pard3b'
| ID |
40511 |
| 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 |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
61638824-62642284 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 62440008 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
| AlphaFold |
Q9CSB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046673
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
| 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 null
Transcript: ENSMUST00000075374
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
| 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 null
Transcript: ENSMUST00000094906
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530053A07Rik |
T |
A |
7: 28,147,465 |
C1158S |
probably damaging |
Het |
| Aatk |
A |
C |
11: 120,018,780 |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,597,725 |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,629,121 |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,930,209 |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,790,618 |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,452,163 |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,054,631 |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,640,549 |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,114,360 |
R47Q |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,012,093 |
V972A |
probably benign |
Het |
| Car9 |
T |
A |
4: 43,511,881 |
L300H |
probably damaging |
Het |
| Chmp3 |
T |
C |
6: 71,552,411 |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,571,782 |
N79S |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,498,355 |
I335N |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 112,570,151 |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 105,675,040 |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,039,986 |
|
probably benign |
Het |
| Dirc2 |
A |
T |
16: 35,735,604 |
V162D |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,856,640 |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,181,586 |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,135,233 |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,096,119 |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,283,402 |
T2162S |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,470,387 |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,532,167 |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,623,510 |
N49Y |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,224,159 |
V974E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 181,229,656 |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,956,966 |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,802,230 |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,282,874 |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,272,892 |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,276,983 |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,892,100 |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,664,892 |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 111,327,873 |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 101,101,294 |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,806,343 |
W1090L |
probably damaging |
Het |
| Olfr1281 |
A |
G |
2: 111,328,830 |
D137G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,328,231 |
|
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,341,315 |
L652P |
probably damaging |
Het |
| Prdm15 |
G |
A |
16: 97,794,334 |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 16,954,953 |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,549,608 |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,792,249 |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,584,967 |
M255R |
probably damaging |
Het |
| Smg8 |
C |
T |
11: 87,086,084 |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,718,058 |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,573,804 |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 67,025,922 |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,864,351 |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,380,884 |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,281,039 |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,613,254 |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 80,984,424 |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,846,806 |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,805,948 |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,634,026 |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,375,132 |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,091,889 |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,412,676 |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 74,083,480 |
V192L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,638,333 |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,584,650 |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,779,994 |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 167,055,411 |
Q531L |
probably benign |
Het |
|
| Other mutations in Pard3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Pard3b
|
APN |
1 |
62,161,198 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01363:Pard3b
|
APN |
1 |
62,637,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01509:Pard3b
|
APN |
1 |
62,161,248 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL01611:Pard3b
|
APN |
1 |
62,637,862 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01651:Pard3b
|
APN |
1 |
62,479,804 (GRCm38) |
intron |
probably benign |
|
|
IGL01670:Pard3b
|
APN |
1 |
62,211,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02156:Pard3b
|
APN |
1 |
61,767,950 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02232:Pard3b
|
APN |
1 |
62,166,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02450:Pard3b
|
APN |
1 |
62,532,676 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL03064:Pard3b
|
APN |
1 |
62,198,771 (GRCm38) |
splice site |
probably benign |
|
|
R0040:Pard3b
|
UTSW |
1 |
62,637,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0040:Pard3b
|
UTSW |
1 |
62,637,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0060:Pard3b
|
UTSW |
1 |
61,639,315 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0157:Pard3b
|
UTSW |
1 |
62,211,633 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0333:Pard3b
|
UTSW |
1 |
62,230,212 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0448:Pard3b
|
UTSW |
1 |
62,166,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0465:Pard3b
|
UTSW |
1 |
62,211,718 (GRCm38) |
splice site |
probably benign |
|
|
R1264:Pard3b
|
UTSW |
1 |
62,164,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1468:Pard3b
|
UTSW |
1 |
62,345,029 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1468:Pard3b
|
UTSW |
1 |
62,345,029 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1482:Pard3b
|
UTSW |
1 |
62,166,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1554:Pard3b
|
UTSW |
1 |
62,637,894 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1836:Pard3b
|
UTSW |
1 |
62,637,604 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2005:Pard3b
|
UTSW |
1 |
62,144,891 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2220:Pard3b
|
UTSW |
1 |
62,479,683 (GRCm38) |
nonsense |
probably null |
|
|
R2435:Pard3b
|
UTSW |
1 |
62,587,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3015:Pard3b
|
UTSW |
1 |
62,344,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3688:Pard3b
|
UTSW |
1 |
62,479,569 (GRCm38) |
missense |
probably benign |
|
|
R3712:Pard3b
|
UTSW |
1 |
62,343,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3799:Pard3b
|
UTSW |
1 |
62,161,229 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3942:Pard3b
|
UTSW |
1 |
62,159,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4683:Pard3b
|
UTSW |
1 |
62,216,516 (GRCm38) |
missense |
probably benign |
|
|
R4729:Pard3b
|
UTSW |
1 |
62,211,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4898:Pard3b
|
UTSW |
1 |
61,768,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4981:Pard3b
|
UTSW |
1 |
62,344,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5049:Pard3b
|
UTSW |
1 |
62,161,161 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5223:Pard3b
|
UTSW |
1 |
62,344,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5476:Pard3b
|
UTSW |
1 |
62,010,406 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5541:Pard3b
|
UTSW |
1 |
61,639,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5672:Pard3b
|
UTSW |
1 |
62,010,466 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5714:Pard3b
|
UTSW |
1 |
62,637,916 (GRCm38) |
missense |
probably null |
0.99 |
|
R5722:Pard3b
|
UTSW |
1 |
62,440,001 (GRCm38) |
splice site |
probably null |
|
|
R5793:Pard3b
|
UTSW |
1 |
61,767,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5930:Pard3b
|
UTSW |
1 |
61,768,130 (GRCm38) |
intron |
probably benign |
|
|
R5950:Pard3b
|
UTSW |
1 |
62,216,531 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5997:Pard3b
|
UTSW |
1 |
62,076,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6646:Pard3b
|
UTSW |
1 |
62,161,121 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6720:Pard3b
|
UTSW |
1 |
62,159,470 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6809:Pard3b
|
UTSW |
1 |
62,161,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7148:Pard3b
|
UTSW |
1 |
62,440,032 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7847:Pard3b
|
UTSW |
1 |
62,343,934 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7879:Pard3b
|
UTSW |
1 |
62,159,511 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8048:Pard3b
|
UTSW |
1 |
62,153,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8125:Pard3b
|
UTSW |
1 |
61,767,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8329:Pard3b
|
UTSW |
1 |
62,637,798 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8766:Pard3b
|
UTSW |
1 |
62,159,478 (GRCm38) |
missense |
probably benign |
0.35 |
|
R8833:Pard3b
|
UTSW |
1 |
62,344,999 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8889:Pard3b
|
UTSW |
1 |
62,637,867 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8892:Pard3b
|
UTSW |
1 |
62,637,867 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8907:Pard3b
|
UTSW |
1 |
62,344,135 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8909:Pard3b
|
UTSW |
1 |
62,344,135 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9215:Pard3b
|
UTSW |
1 |
62,164,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9310:Pard3b
|
UTSW |
1 |
62,166,369 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9542:Pard3b
|
UTSW |
1 |
62,211,627 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Pard3b
|
UTSW |
1 |
62,238,892 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTAAAGTGTGGCAATGGACTGC -3'
(R):5'- AGGTCCCAGTTCTCTGGTATGCTTC -3'
Sequencing Primer
(F):5'- GAGGGTCTCATTAGAAAATTGTTCAG -3'
(R):5'- TCCCTCCAGTTGATTATTGGAAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation