Incidental Mutation 'R5223:Pard3b'
| ID |
402399 |
| 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 |
042796-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5223 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62383272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 789
(Y789H)
|
| 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: Y727H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: Y727H
| 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: Y789H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: Y789H
| 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: Y789H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: Y789H
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,904,278 (GRCm39) |
V273M |
possibly damaging |
Het |
| Acin1 |
CCGC |
CC |
14: 54,880,398 (GRCm39) |
|
probably null |
Het |
| Acvr1b |
T |
A |
15: 101,091,857 (GRCm39) |
C46S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,846,818 (GRCm39) |
H416L |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,406,072 (GRCm39) |
L1653Q |
probably damaging |
Het |
| Cacna1a |
G |
A |
8: 85,313,824 (GRCm39) |
V1533M |
possibly damaging |
Het |
| Ccdc33 |
C |
T |
9: 57,940,267 (GRCm39) |
E502K |
possibly damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,735,888 (GRCm39) |
|
probably null |
Het |
| Dnai4 |
T |
A |
4: 102,906,600 (GRCm39) |
S738C |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,816,496 (GRCm39) |
V2675A |
probably damaging |
Het |
| Foxh1 |
T |
A |
15: 76,552,929 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gpnmb |
C |
T |
6: 49,033,139 (GRCm39) |
T539M |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,799,867 (GRCm39) |
E286G |
probably benign |
Het |
| Hspa9 |
A |
G |
18: 35,085,724 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,271,225 (GRCm39) |
L2454P |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
| Igkv6-32 |
T |
C |
6: 70,051,207 (GRCm39) |
S50G |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,463,154 (GRCm39) |
Y113F |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,793,434 (GRCm39) |
D636G |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,510,171 (GRCm39) |
W569* |
probably null |
Het |
| Klra4 |
T |
A |
6: 130,039,110 (GRCm39) |
D94V |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,280,666 (GRCm39) |
H378L |
probably benign |
Het |
| Lhx8 |
T |
A |
3: 154,027,281 (GRCm39) |
T254S |
probably damaging |
Het |
| Lrch3 |
C |
T |
16: 32,734,767 (GRCm39) |
R86W |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,354,397 (GRCm39) |
N477I |
probably damaging |
Het |
| Man2a1 |
T |
A |
17: 65,019,266 (GRCm39) |
I710K |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,229,826 (GRCm39) |
Y881N |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,402,074 (GRCm39) |
V1100E |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,659,519 (GRCm39) |
V83A |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,678 (GRCm39) |
T88A |
probably benign |
Het |
| Or5p62 |
A |
G |
7: 107,771,915 (GRCm39) |
V12A |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,496,322 (GRCm39) |
V163A |
probably benign |
Het |
| Pacs1 |
C |
T |
19: 5,195,169 (GRCm39) |
V472I |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,844 (GRCm39) |
Y492H |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,216,106 (GRCm39) |
N2261D |
probably damaging |
Het |
| Pex5l |
A |
T |
3: 33,012,945 (GRCm39) |
S15T |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,105,581 (GRCm39) |
N682S |
probably benign |
Het |
| Poc5 |
A |
T |
13: 96,539,463 (GRCm39) |
M335L |
probably benign |
Het |
| Polr1a |
C |
T |
6: 71,944,891 (GRCm39) |
R1316W |
possibly damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,814,873 (GRCm39) |
H617R |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,454,591 (GRCm39) |
S296R |
probably benign |
Het |
| Prpsap1 |
T |
C |
11: 116,378,974 (GRCm39) |
K65E |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,909 (GRCm39) |
E775G |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Rbbp8 |
C |
A |
18: 11,854,747 (GRCm39) |
A324E |
probably benign |
Het |
| Rfx6 |
G |
T |
10: 51,554,092 (GRCm39) |
G63* |
probably null |
Het |
| Rpl37a |
T |
C |
1: 72,751,308 (GRCm39) |
M47T |
probably benign |
Het |
| Samm50 |
T |
G |
15: 84,084,831 (GRCm39) |
N187K |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,064,142 (GRCm39) |
|
probably null |
Het |
| Slamf9 |
T |
C |
1: 172,303,799 (GRCm39) |
I48T |
possibly damaging |
Het |
| Slc2a12 |
A |
G |
10: 22,577,931 (GRCm39) |
K576E |
probably damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,083,710 (GRCm39) |
G388S |
probably damaging |
Het |
| Smtn |
G |
T |
11: 3,479,530 (GRCm39) |
N512K |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,455,258 (GRCm39) |
Y3040C |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,183,401 (GRCm39) |
V389E |
probably damaging |
Het |
| Sult5a1 |
A |
T |
8: 123,872,161 (GRCm39) |
M227K |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,325 (GRCm39) |
D389G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,923,052 (GRCm39) |
V2545A |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,142,589 (GRCm39) |
I712F |
probably damaging |
Het |
| Trim62 |
T |
C |
4: 128,803,204 (GRCm39) |
V418A |
probably damaging |
Het |
| Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,093 (GRCm39) |
D104G |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,015,251 (GRCm39) |
I371V |
probably benign |
Het |
| Zfp273 |
T |
G |
13: 67,974,298 (GRCm39) |
C475W |
probably damaging |
Het |
| Zfp738 |
G |
T |
13: 67,821,182 (GRCm39) |
T55K |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,183,971 (GRCm39) |
I978V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCCAGGCAAAGATTTTGG -3'
(R):5'- CACATTGCATCCTCCAATCTAATG -3'
Sequencing Primer
(F):5'- TCCAGGCAAAGATTTTGGTCCAAC -3'
(R):5'- CTAATGTTCCTTAAGCCAAAGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation