Incidental Mutation 'R7148:Pard3b'
| ID |
553919 |
| 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 |
045225-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7148 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62479191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 884
(D884E)
|
| 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 |
probably benign
Transcript: ENSMUST00000046673
AA Change: D822E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: D822E
| 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 benign
Transcript: ENSMUST00000075374
AA Change: D884E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: D884E
| 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 benign
Transcript: ENSMUST00000094906
AA Change: D884E
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: D884E
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
A |
14: 32,110,269 (GRCm39) |
Y14F |
probably damaging |
Het |
| Acly |
A |
G |
11: 100,374,608 (GRCm39) |
V805A |
possibly damaging |
Het |
| Apcdd1 |
T |
C |
18: 63,084,916 (GRCm39) |
V371A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,356,756 (GRCm39) |
F127I |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,374,102 (GRCm39) |
L374P |
probably damaging |
Het |
| Ces2b |
A |
G |
8: 105,564,928 (GRCm39) |
Y504C |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,228,950 (GRCm39) |
G427S |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,498,632 (GRCm39) |
V256M |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,668,464 (GRCm39) |
C573* |
probably null |
Het |
| Emcn |
A |
T |
3: 137,122,855 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Eva1a |
T |
G |
6: 82,048,125 (GRCm39) |
M1R |
probably null |
Het |
| Fam243 |
T |
C |
16: 92,117,875 (GRCm39) |
K138E |
probably benign |
Het |
| Fam83h |
C |
A |
15: 75,877,016 (GRCm39) |
D194Y |
probably damaging |
Het |
| Flywch1 |
T |
C |
17: 23,974,649 (GRCm39) |
K664E |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,544 (GRCm39) |
V447A |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,863 (GRCm39) |
D93G |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,562,605 (GRCm39) |
I2318V |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,901 (GRCm39) |
L258Q |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,874,671 (GRCm39) |
I207T |
probably damaging |
Het |
| Kmo |
T |
A |
1: 175,479,168 (GRCm39) |
C235S |
probably damaging |
Het |
| Lamc2 |
G |
A |
1: 153,061,730 (GRCm39) |
P2S |
probably benign |
Het |
| Lman2 |
G |
A |
13: 55,500,762 (GRCm39) |
P146S |
probably benign |
Het |
| Mars2 |
T |
C |
1: 55,276,673 (GRCm39) |
I92T |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,491,330 (GRCm39) |
F27L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,134,577 (GRCm39) |
V460A |
possibly damaging |
Het |
| Nicn1 |
T |
A |
9: 108,172,306 (GRCm39) |
*214R |
probably null |
Het |
| Nsd2 |
T |
C |
5: 34,042,855 (GRCm39) |
F1040L |
possibly damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,001 (GRCm39) |
I197N |
possibly damaging |
Het |
| Osm |
T |
A |
11: 4,189,936 (GRCm39) |
I240N |
probably benign |
Het |
| Pex5 |
T |
G |
6: 124,382,231 (GRCm39) |
D150A |
probably benign |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,676 (GRCm39) |
V394A |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,488,831 (GRCm39) |
K334R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Prpf4b |
T |
G |
13: 35,078,455 (GRCm39) |
N688K |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,943,001 (GRCm39) |
E192G |
possibly damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,596,318 (GRCm39) |
G207* |
probably null |
Het |
| Rhobtb3 |
G |
T |
13: 76,059,006 (GRCm39) |
T264K |
probably benign |
Het |
| Rpl27 |
A |
G |
11: 101,333,232 (GRCm39) |
|
probably benign |
Het |
| Rxfp3 |
C |
T |
15: 11,036,863 (GRCm39) |
V170I |
possibly damaging |
Het |
| Samd4 |
T |
A |
14: 47,254,140 (GRCm39) |
S201R |
probably benign |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,996 (GRCm39) |
I32L |
probably benign |
Het |
| Sirpb1c |
A |
T |
3: 15,887,223 (GRCm39) |
Y205* |
probably null |
Het |
| Smc3 |
A |
T |
19: 53,630,326 (GRCm39) |
E1111V |
possibly damaging |
Het |
| Sowaha |
C |
A |
11: 53,370,182 (GRCm39) |
V185L |
probably benign |
Het |
| Spata4 |
A |
C |
8: 55,055,585 (GRCm39) |
I159L |
probably benign |
Het |
| Spring1 |
A |
G |
5: 118,393,759 (GRCm39) |
N46D |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,216,174 (GRCm39) |
I373T |
probably benign |
Het |
| Tle7 |
G |
T |
8: 110,836,048 (GRCm39) |
R119I |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,313 (GRCm39) |
V65A |
probably benign |
Het |
| Trabd2b |
A |
G |
4: 114,266,547 (GRCm39) |
D187G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,758,613 (GRCm39) |
I2147V |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,429 (GRCm39) |
C440* |
probably null |
Het |
| Ube3b |
A |
C |
5: 114,544,313 (GRCm39) |
N570T |
probably damaging |
Het |
| Uevld |
A |
G |
7: 46,600,724 (GRCm39) |
I70T |
probably damaging |
Het |
| Usp10 |
C |
T |
8: 120,663,289 (GRCm39) |
T37I |
possibly damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,981 (GRCm39) |
F286I |
probably benign |
Het |
| Vmn2r62 |
A |
G |
7: 42,414,640 (GRCm39) |
V601A |
probably benign |
Het |
| Wdr81 |
G |
C |
11: 75,336,828 (GRCm39) |
N401K |
|
Het |
| Ythdc2 |
G |
T |
18: 44,966,189 (GRCm39) |
V142F |
probably benign |
Het |
| Zfp346 |
T |
C |
13: 55,253,263 (GRCm39) |
F36S |
possibly damaging |
Het |
| Zfp748 |
C |
T |
13: 67,690,358 (GRCm39) |
V301M |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,220 (GRCm39) |
K148E |
possibly 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 |
|
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 |
|
R8892: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'- AGCAACTGTGTTATTTTCCTGC -3'
(R):5'- GATAAAGGTTCCCTGGCAAGG -3'
Sequencing Primer
(F):5'- GCAACTGTGTTATTTTCCTGCTTTTG -3'
(R):5'- GGTATGCTTCTTAACCTAAAATCCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation