Incidental Mutation 'IGL02156:Pard3b'
| ID |
282236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pard3b
|
| Ensembl Gene |
ENSMUSG00000052062 |
| Gene Name |
par-3 family cell polarity regulator beta |
| Synonyms |
PAR3L, PAR3B, 1810008K04Rik, 2010002N16Rik, PAR3beta, Als2cr19, 2810455B10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61807109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 41
(D41E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
| AlphaFold |
Q9CSB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046673
AA Change: D41E
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: D41E
| 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: D41E
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: D41E
| 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: D41E
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: D41E
| 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: ENSMUST00000129030
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138535
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,566 (GRCm39) |
|
noncoding transcript |
Het |
| Adam33 |
G |
A |
2: 130,895,078 (GRCm39) |
|
probably benign |
Het |
| Akr7a5 |
C |
A |
4: 139,041,580 (GRCm39) |
A163D |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,037,937 (GRCm39) |
|
probably benign |
Het |
| Asf1a |
C |
T |
10: 53,482,239 (GRCm39) |
A17V |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,085,529 (GRCm39) |
S25T |
probably benign |
Het |
| Cbln4 |
T |
C |
2: 171,884,128 (GRCm39) |
I31V |
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,376,005 (GRCm39) |
L172R |
possibly damaging |
Het |
| Ceacam9 |
T |
C |
7: 16,457,544 (GRCm39) |
|
probably benign |
Het |
| Crhr1 |
C |
A |
11: 104,054,709 (GRCm39) |
N107K |
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,707,646 (GRCm39) |
M488L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,458,882 (GRCm39) |
V3752A |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,370,951 (GRCm39) |
V4744M |
probably damaging |
Het |
| Dstyk |
C |
A |
1: 132,377,664 (GRCm39) |
N423K |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,286,941 (GRCm39) |
S1341P |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,401,527 (GRCm39) |
H409R |
probably benign |
Het |
| Fbxo21 |
A |
G |
5: 118,132,733 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,618,551 (GRCm39) |
I230T |
probably damaging |
Het |
| Gm9931 |
T |
C |
1: 147,157,366 (GRCm39) |
|
noncoding transcript |
Het |
| Grk6 |
T |
C |
13: 55,597,174 (GRCm39) |
F36L |
possibly damaging |
Het |
| Grm1 |
G |
T |
10: 10,595,720 (GRCm39) |
A636D |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,800,916 (GRCm39) |
|
probably benign |
Het |
| Hltf |
G |
A |
3: 20,146,971 (GRCm39) |
V577I |
possibly damaging |
Het |
| Hrob |
C |
T |
11: 102,145,865 (GRCm39) |
S47F |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,359 (GRCm39) |
D378G |
probably damaging |
Het |
| Mcoln1 |
C |
A |
8: 3,562,657 (GRCm39) |
S6* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,961,292 (GRCm39) |
S194T |
probably benign |
Het |
| Myo1h |
A |
C |
5: 114,491,972 (GRCm39) |
|
probably benign |
Het |
| Nop9 |
T |
A |
14: 55,990,740 (GRCm39) |
C557* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,309,432 (GRCm39) |
D1619G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,893,842 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,361 (GRCm39) |
H228Q |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,494 (GRCm39) |
M59T |
probably damaging |
Het |
| Parp14 |
G |
T |
16: 35,678,967 (GRCm39) |
Q334K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,847,859 (GRCm39) |
I1228K |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,965,799 (GRCm39) |
F814I |
probably benign |
Het |
| Prr5 |
A |
G |
15: 84,654,236 (GRCm39) |
I306V |
possibly damaging |
Het |
| Rsph1 |
T |
G |
17: 31,477,090 (GRCm39) |
S282R |
probably benign |
Het |
| Son |
T |
C |
16: 91,452,992 (GRCm39) |
S580P |
possibly damaging |
Het |
| Sptbn5 |
G |
T |
2: 119,878,098 (GRCm39) |
|
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,491,095 (GRCm39) |
|
probably null |
Het |
| Tfpt |
A |
G |
7: 3,632,039 (GRCm39) |
S24P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,577,197 (GRCm39) |
T1507A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,641,163 (GRCm39) |
|
probably benign |
Het |
| Wwox |
G |
A |
8: 115,174,899 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
C |
T |
4: 131,931,819 (GRCm39) |
R447H |
possibly damaging |
Het |
| Zfp385c |
A |
G |
11: 100,519,845 (GRCm39) |
F368S |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zhx1 |
A |
C |
15: 57,917,445 (GRCm39) |
V267G |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation