Incidental Mutation 'R8892:Pard3b'
ID |
677723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pard3b
|
Ensembl Gene |
ENSMUSG00000052062 |
Gene Name |
par-3 family cell polarity regulator beta |
Synonyms |
PAR3L, PAR3B, 1810008K04Rik, 2010002N16Rik, PAR3beta, Als2cr19, 2810455B10Rik |
MMRRC Submission |
068695-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8892 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62677026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1186
(Y1186N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
AlphaFold |
Q9CSB4 |
PDB Structure |
Solution structure of PDZ domain in protein XP_110852 [SOLUTION NMR]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046673
AA Change: Y1124N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062 AA Change: Y1124N
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: Y1186N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062 AA Change: Y1186N
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 |
possibly damaging
Transcript: ENSMUST00000094906
AA Change: Y1087N
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062 AA Change: Y1087N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.6%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
A |
7: 119,815,606 (GRCm39) |
L285I |
probably damaging |
Het |
Abcc2 |
T |
G |
19: 43,795,571 (GRCm39) |
S442R |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
Adpgk |
A |
G |
9: 59,217,623 (GRCm39) |
Y212C |
probably damaging |
Het |
Ahcyl1 |
C |
T |
3: 107,579,378 (GRCm39) |
D219N |
probably benign |
Het |
Ap3b1 |
G |
A |
13: 94,679,348 (GRCm39) |
V997M |
unknown |
Het |
Bbs1 |
A |
C |
19: 4,942,954 (GRCm39) |
S479A |
probably benign |
Het |
Bean1 |
A |
T |
8: 104,943,610 (GRCm39) |
D231V |
probably damaging |
Het |
Cacnb1 |
A |
T |
11: 97,901,192 (GRCm39) |
V220E |
probably damaging |
Het |
Camkv |
C |
T |
9: 107,823,333 (GRCm39) |
R120* |
probably null |
Het |
Ccny |
T |
G |
18: 9,345,235 (GRCm39) |
S180R |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,143,284 (GRCm39) |
H3012Q |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,660,468 (GRCm39) |
N476S |
unknown |
Het |
Clasp2 |
T |
A |
9: 113,709,251 (GRCm39) |
L680Q |
probably damaging |
Het |
Clip1 |
A |
T |
5: 123,717,565 (GRCm39) |
S1241R |
probably benign |
Het |
Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,604,634 (GRCm39) |
K1036N |
|
Het |
Ctnna1 |
G |
A |
18: 35,372,586 (GRCm39) |
V514I |
possibly damaging |
Het |
Ddr1 |
A |
C |
17: 35,993,556 (GRCm39) |
I852S |
probably benign |
Het |
Dhrs1 |
G |
A |
14: 55,977,404 (GRCm39) |
A238V |
possibly damaging |
Het |
Echs1 |
A |
C |
7: 139,688,031 (GRCm39) |
L258R |
probably damaging |
Het |
Epha8 |
G |
T |
4: 136,661,850 (GRCm39) |
H582N |
probably benign |
Het |
Fhod3 |
G |
A |
18: 25,189,452 (GRCm39) |
|
probably null |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,226,590 (GRCm39) |
D1855G |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
T |
C |
1: 135,314,544 (GRCm39) |
N904S |
possibly damaging |
Het |
Itih3 |
A |
G |
14: 30,637,635 (GRCm39) |
V508A |
probably benign |
Het |
Klhl14 |
T |
G |
18: 21,691,220 (GRCm39) |
T437P |
possibly damaging |
Het |
Krt5 |
T |
C |
15: 101,619,185 (GRCm39) |
M268V |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,973,194 (GRCm39) |
L1587Q |
probably damaging |
Het |
Lhx4 |
T |
C |
1: 155,581,013 (GRCm39) |
T171A |
possibly damaging |
Het |
Lrfn2 |
A |
C |
17: 49,377,376 (GRCm39) |
E152D |
probably damaging |
Het |
Ltn1 |
A |
T |
16: 87,229,230 (GRCm39) |
|
probably benign |
Het |
Ly9 |
A |
T |
1: 171,421,465 (GRCm39) |
D595E |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,249,036 (GRCm39) |
L7165P |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,958,141 (GRCm39) |
G648D |
probably damaging |
Het |
Mgll |
T |
A |
6: 88,743,306 (GRCm39) |
C109S |
unknown |
Het |
Micall2 |
T |
A |
5: 139,703,254 (GRCm39) |
H194L |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
Mmp16 |
T |
A |
4: 18,051,820 (GRCm39) |
Y270N |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,628,016 (GRCm39) |
F14I |
probably benign |
Het |
Nme6 |
T |
G |
9: 109,668,706 (GRCm39) |
F41V |
probably damaging |
Het |
Npffr1 |
A |
G |
10: 61,449,939 (GRCm39) |
N71S |
possibly damaging |
Het |
Or1b1 |
C |
A |
2: 36,995,523 (GRCm39) |
L46F |
probably damaging |
Het |
Or1p4-ps1 |
T |
C |
11: 74,207,949 (GRCm39) |
W33R |
probably damaging |
Het |
Or4k41 |
A |
G |
2: 111,279,967 (GRCm39) |
I161V |
probably benign |
Het |
Pou2f1 |
A |
T |
1: 165,708,027 (GRCm39) |
S552T |
unknown |
Het |
Ppp2r3c |
A |
T |
12: 55,336,453 (GRCm39) |
L233Q |
possibly damaging |
Het |
Prl8a1 |
G |
A |
13: 27,766,069 (GRCm39) |
H9Y |
possibly damaging |
Het |
Rnf135 |
C |
T |
11: 80,074,957 (GRCm39) |
T72I |
probably benign |
Het |
Rsf1 |
A |
T |
7: 97,328,171 (GRCm39) |
I1058F |
|
Het |
Slc39a6 |
A |
T |
18: 24,729,386 (GRCm39) |
Y442* |
probably null |
Het |
Slc44a2 |
G |
A |
9: 21,253,153 (GRCm39) |
|
probably benign |
Het |
Slc4a11 |
T |
G |
2: 130,529,140 (GRCm39) |
S437R |
probably damaging |
Het |
Spc24 |
G |
A |
9: 21,668,994 (GRCm39) |
Q98* |
probably null |
Het |
Spock3 |
T |
A |
8: 63,404,986 (GRCm39) |
Y51* |
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,067,800 (GRCm39) |
Y1805H |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,468,845 (GRCm39) |
I780M |
probably benign |
Het |
Tcerg1l |
C |
T |
7: 137,999,260 (GRCm39) |
W41* |
probably null |
Het |
Tdrd9 |
A |
G |
12: 111,979,718 (GRCm39) |
Y401C |
probably benign |
Het |
Tex47 |
A |
T |
5: 7,355,115 (GRCm39) |
I99F |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,099,834 (GRCm39) |
|
probably benign |
Het |
Tmem209 |
T |
A |
6: 30,497,942 (GRCm39) |
S276C |
possibly damaging |
Het |
Tmprss11f |
A |
C |
5: 86,687,618 (GRCm39) |
S97A |
possibly damaging |
Het |
Top6bl |
A |
G |
19: 4,699,721 (GRCm39) |
V494A |
possibly damaging |
Het |
Ttc7 |
T |
A |
17: 87,637,520 (GRCm39) |
M425K |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,739,466 (GRCm39) |
G3737D |
unknown |
Het |
Tyk2 |
T |
C |
9: 21,027,463 (GRCm39) |
H503R |
probably benign |
Het |
Unc13b |
A |
T |
4: 43,176,484 (GRCm39) |
R2437S |
unknown |
Het |
Uqcrc1 |
C |
T |
9: 108,766,186 (GRCm39) |
R58C |
probably damaging |
Het |
Vmn1r160 |
G |
A |
7: 22,571,474 (GRCm39) |
V276I |
probably benign |
Het |
Vmn2r112 |
A |
G |
17: 22,837,612 (GRCm39) |
Y691C |
probably damaging |
Het |
Vmn2r87 |
A |
C |
10: 130,308,105 (GRCm39) |
I711S |
probably damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,464,335 (GRCm39) |
S652P |
possibly damaging |
Het |
Vps50 |
T |
A |
6: 3,536,967 (GRCm39) |
C313S |
probably damaging |
Het |
Xrcc5 |
T |
G |
1: 72,382,190 (GRCm39) |
D455E |
possibly damaging |
Het |
Zdhhc6 |
T |
A |
19: 55,290,987 (GRCm39) |
|
probably benign |
Het |
Zfp964 |
G |
A |
8: 70,116,405 (GRCm39) |
G335D |
probably damaging |
Het |
|
Other mutations in Pard3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Pard3b
|
APN |
1 |
62,200,357 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01363:Pard3b
|
APN |
1 |
62,676,799 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01509:Pard3b
|
APN |
1 |
62,200,407 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL01611:Pard3b
|
APN |
1 |
62,677,021 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01651:Pard3b
|
APN |
1 |
62,518,963 (GRCm39) |
intron |
probably benign |
|
IGL01670:Pard3b
|
APN |
1 |
62,250,807 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Pard3b
|
APN |
1 |
61,807,109 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02232:Pard3b
|
APN |
1 |
62,205,541 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02450:Pard3b
|
APN |
1 |
62,571,835 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03064:Pard3b
|
APN |
1 |
62,237,930 (GRCm39) |
splice site |
probably benign |
|
R0040:Pard3b
|
UTSW |
1 |
62,676,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Pard3b
|
UTSW |
1 |
62,676,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R0060:Pard3b
|
UTSW |
1 |
61,678,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R0157:Pard3b
|
UTSW |
1 |
62,250,792 (GRCm39) |
missense |
probably damaging |
0.96 |
R0333:Pard3b
|
UTSW |
1 |
62,269,371 (GRCm39) |
missense |
probably benign |
0.00 |
R0448:Pard3b
|
UTSW |
1 |
62,205,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R0465:Pard3b
|
UTSW |
1 |
62,250,877 (GRCm39) |
splice site |
probably benign |
|
R0497:Pard3b
|
UTSW |
1 |
62,479,167 (GRCm39) |
splice site |
probably null |
|
R1264:Pard3b
|
UTSW |
1 |
62,203,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Pard3b
|
UTSW |
1 |
62,384,188 (GRCm39) |
missense |
probably benign |
0.00 |
R1468:Pard3b
|
UTSW |
1 |
62,384,188 (GRCm39) |
missense |
probably benign |
0.00 |
R1482:Pard3b
|
UTSW |
1 |
62,205,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1554:Pard3b
|
UTSW |
1 |
62,677,053 (GRCm39) |
missense |
probably damaging |
0.97 |
R1836:Pard3b
|
UTSW |
1 |
62,676,763 (GRCm39) |
missense |
probably benign |
0.03 |
R2005:Pard3b
|
UTSW |
1 |
62,184,050 (GRCm39) |
missense |
probably benign |
0.12 |
R2220:Pard3b
|
UTSW |
1 |
62,518,842 (GRCm39) |
nonsense |
probably null |
|
R2435:Pard3b
|
UTSW |
1 |
62,626,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R3015:Pard3b
|
UTSW |
1 |
62,384,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R3688:Pard3b
|
UTSW |
1 |
62,518,728 (GRCm39) |
missense |
probably benign |
|
R3712:Pard3b
|
UTSW |
1 |
62,383,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R3799:Pard3b
|
UTSW |
1 |
62,200,388 (GRCm39) |
missense |
probably benign |
0.06 |
R3942:Pard3b
|
UTSW |
1 |
62,198,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4683:Pard3b
|
UTSW |
1 |
62,255,675 (GRCm39) |
missense |
probably benign |
|
R4729:Pard3b
|
UTSW |
1 |
62,250,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4898:Pard3b
|
UTSW |
1 |
61,807,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Pard3b
|
UTSW |
1 |
62,383,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R5049:Pard3b
|
UTSW |
1 |
62,200,320 (GRCm39) |
missense |
probably benign |
0.01 |
R5223:Pard3b
|
UTSW |
1 |
62,383,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R5476:Pard3b
|
UTSW |
1 |
62,049,565 (GRCm39) |
missense |
probably benign |
0.10 |
R5541:Pard3b
|
UTSW |
1 |
61,678,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R5672:Pard3b
|
UTSW |
1 |
62,049,625 (GRCm39) |
missense |
probably benign |
0.11 |
R5714:Pard3b
|
UTSW |
1 |
62,677,075 (GRCm39) |
missense |
probably null |
0.99 |
R5722:Pard3b
|
UTSW |
1 |
62,479,160 (GRCm39) |
splice site |
probably null |
|
R5793:Pard3b
|
UTSW |
1 |
61,807,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R5930:Pard3b
|
UTSW |
1 |
61,807,289 (GRCm39) |
intron |
probably benign |
|
R5950:Pard3b
|
UTSW |
1 |
62,255,690 (GRCm39) |
missense |
probably benign |
0.04 |
R5997:Pard3b
|
UTSW |
1 |
62,115,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Pard3b
|
UTSW |
1 |
62,200,280 (GRCm39) |
missense |
probably benign |
0.32 |
R6720:Pard3b
|
UTSW |
1 |
62,198,629 (GRCm39) |
missense |
probably damaging |
0.99 |
R6809:Pard3b
|
UTSW |
1 |
62,200,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7148:Pard3b
|
UTSW |
1 |
62,479,191 (GRCm39) |
missense |
probably benign |
0.01 |
R7847:Pard3b
|
UTSW |
1 |
62,383,093 (GRCm39) |
missense |
probably benign |
0.00 |
R7879:Pard3b
|
UTSW |
1 |
62,198,670 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8048:Pard3b
|
UTSW |
1 |
62,193,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R8125:Pard3b
|
UTSW |
1 |
61,807,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Pard3b
|
UTSW |
1 |
62,676,957 (GRCm39) |
missense |
probably benign |
0.30 |
R8766:Pard3b
|
UTSW |
1 |
62,198,637 (GRCm39) |
missense |
probably benign |
0.35 |
R8833:Pard3b
|
UTSW |
1 |
62,384,158 (GRCm39) |
missense |
probably benign |
0.00 |
R8889:Pard3b
|
UTSW |
1 |
62,677,026 (GRCm39) |
missense |
probably damaging |
0.97 |
R8907:Pard3b
|
UTSW |
1 |
62,383,294 (GRCm39) |
missense |
probably benign |
0.39 |
R8909:Pard3b
|
UTSW |
1 |
62,383,294 (GRCm39) |
missense |
probably benign |
0.39 |
R9215:Pard3b
|
UTSW |
1 |
62,203,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Pard3b
|
UTSW |
1 |
62,205,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R9542:Pard3b
|
UTSW |
1 |
62,250,786 (GRCm39) |
nonsense |
probably null |
|
Z1176:Pard3b
|
UTSW |
1 |
62,278,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCCTCATCCTGTACATG -3'
(R):5'- ACGCATCCTCAGGAAGCAAG -3'
Sequencing Primer
(F):5'- TCCTGTACATGCCCCAAGG -3'
(R):5'- GGAAGCAAGAGCCACTCTGTAC -3'
|
Posted On |
2021-08-02 |