Incidental Mutation 'IGL00164:Palb2'
ID |
1442 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Palb2
|
Ensembl Gene |
ENSMUSG00000044702 |
Gene Name |
partner and localizer of BRCA2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00164
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 121720271 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063587]
[ENSMUST00000098068]
[ENSMUST00000106468]
[ENSMUST00000106469]
[ENSMUST00000131657]
[ENSMUST00000142952]
|
AlphaFold |
Q3U0P1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063587
|
SMART Domains |
Protein: ENSMUSP00000063514 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
PDB:3EU7|A
|
36 |
383 |
N/A |
PDB |
SCOP:d2bbkh_
|
231 |
381 |
4e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098068
|
SMART Domains |
Protein: ENSMUSP00000095675 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
Pfam:PALB2_WD40
|
755 |
1102 |
2.4e-183 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106468
|
SMART Domains |
Protein: ENSMUSP00000102076 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
PDB:3EU7|A
|
753 |
984 |
1e-131 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106469
|
SMART Domains |
Protein: ENSMUSP00000102077 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
180 |
196 |
N/A |
INTRINSIC |
PDB:3EU7|A
|
390 |
740 |
N/A |
PDB |
SCOP:d2bbkh_
|
588 |
738 |
3e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130149
|
SMART Domains |
Protein: ENSMUSP00000121994 Gene: ENSMUSG00000044702
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131657
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142952
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality with impaired inner cell mass proliferation, impaired gastrulation, absence of the amnion, somites and tail bud, and general improper organogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
Other mutations in Palb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00232:Palb2
|
APN |
7 |
121,720,287 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02171:Palb2
|
APN |
7 |
121,706,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Palb2
|
APN |
7 |
121,712,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03102:Palb2
|
APN |
7 |
121,723,722 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0128:Palb2
|
UTSW |
7 |
121,727,389 (GRCm39) |
nonsense |
probably null |
|
R1192:Palb2
|
UTSW |
7 |
121,727,432 (GRCm39) |
missense |
probably benign |
0.11 |
R1470:Palb2
|
UTSW |
7 |
121,706,747 (GRCm39) |
nonsense |
probably null |
|
R1470:Palb2
|
UTSW |
7 |
121,706,747 (GRCm39) |
nonsense |
probably null |
|
R1470:Palb2
|
UTSW |
7 |
121,706,746 (GRCm39) |
missense |
probably benign |
0.01 |
R1470:Palb2
|
UTSW |
7 |
121,706,746 (GRCm39) |
missense |
probably benign |
0.01 |
R1575:Palb2
|
UTSW |
7 |
121,710,061 (GRCm39) |
splice site |
probably null |
|
R1664:Palb2
|
UTSW |
7 |
121,723,615 (GRCm39) |
utr 3 prime |
probably benign |
|
R1852:Palb2
|
UTSW |
7 |
121,713,537 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1984:Palb2
|
UTSW |
7 |
121,726,303 (GRCm39) |
missense |
probably damaging |
0.96 |
R2061:Palb2
|
UTSW |
7 |
121,723,748 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2121:Palb2
|
UTSW |
7 |
121,727,004 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2877:Palb2
|
UTSW |
7 |
121,713,652 (GRCm39) |
missense |
probably damaging |
0.97 |
R2878:Palb2
|
UTSW |
7 |
121,713,652 (GRCm39) |
missense |
probably damaging |
0.97 |
R3923:Palb2
|
UTSW |
7 |
121,716,583 (GRCm39) |
splice site |
probably null |
|
R4609:Palb2
|
UTSW |
7 |
121,723,946 (GRCm39) |
missense |
probably benign |
0.16 |
R4629:Palb2
|
UTSW |
7 |
121,727,189 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4678:Palb2
|
UTSW |
7 |
121,726,589 (GRCm39) |
missense |
probably damaging |
0.99 |
R5111:Palb2
|
UTSW |
7 |
121,716,528 (GRCm39) |
nonsense |
probably null |
|
R5381:Palb2
|
UTSW |
7 |
121,727,636 (GRCm39) |
missense |
probably benign |
0.06 |
R5470:Palb2
|
UTSW |
7 |
121,713,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5793:Palb2
|
UTSW |
7 |
121,726,860 (GRCm39) |
missense |
probably benign |
0.05 |
R6160:Palb2
|
UTSW |
7 |
121,727,643 (GRCm39) |
splice site |
probably null |
|
R6630:Palb2
|
UTSW |
7 |
121,723,752 (GRCm39) |
missense |
probably damaging |
0.97 |
R6783:Palb2
|
UTSW |
7 |
121,726,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R6897:Palb2
|
UTSW |
7 |
121,726,270 (GRCm39) |
critical splice donor site |
probably null |
|
R7040:Palb2
|
UTSW |
7 |
121,713,622 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7121:Palb2
|
UTSW |
7 |
121,724,057 (GRCm39) |
missense |
probably benign |
0.18 |
R7438:Palb2
|
UTSW |
7 |
121,716,554 (GRCm39) |
missense |
probably damaging |
0.96 |
R7522:Palb2
|
UTSW |
7 |
121,712,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R7583:Palb2
|
UTSW |
7 |
121,726,565 (GRCm39) |
missense |
probably benign |
0.15 |
R7679:Palb2
|
UTSW |
7 |
121,727,237 (GRCm39) |
missense |
probably benign |
0.00 |
R7769:Palb2
|
UTSW |
7 |
121,727,638 (GRCm39) |
missense |
probably benign |
0.11 |
R7802:Palb2
|
UTSW |
7 |
121,710,119 (GRCm39) |
splice site |
probably null |
|
R8271:Palb2
|
UTSW |
7 |
121,724,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R8428:Palb2
|
UTSW |
7 |
121,711,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8725:Palb2
|
UTSW |
7 |
121,710,884 (GRCm39) |
missense |
unknown |
|
R8927:Palb2
|
UTSW |
7 |
121,723,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Palb2
|
UTSW |
7 |
121,723,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R9509:Palb2
|
UTSW |
7 |
121,727,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R9663:Palb2
|
UTSW |
7 |
121,726,304 (GRCm39) |
missense |
probably benign |
0.14 |
X0060:Palb2
|
UTSW |
7 |
121,713,701 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2011-07-12 |