Incidental Mutation 'IGL03102:Palb2'
| ID |
418796 |
| 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 # |
IGL03102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121723722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 676
(S676T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095675
(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 |
possibly damaging
Transcript: ENSMUST00000098068
AA Change: S676T
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: S676T
| 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
AA Change: S676T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: S676T
| 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 |
possibly damaging
Transcript: ENSMUST00000106469
AA Change: S313T
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: S313T
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
C |
7: 80,744,804 (GRCm39) |
|
probably null |
Het |
| Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
| Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
C |
A |
1: 24,367,134 (GRCm39) |
G483C |
probably damaging |
Het |
| Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
| Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
| Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
| Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
| Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
| Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
| Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
| Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
| Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
| Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
| Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
| Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
| Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
| Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,309,312 (GRCm39) |
R51K |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,322,989 (GRCm39) |
I768F |
possibly damaging |
Het |
| Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,623,269 (GRCm39) |
H94R |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,490,553 (GRCm39) |
N211K |
possibly damaging |
Het |
| Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
| Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
| Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
| Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
possibly damaging |
Het |
|
| Other mutations in Palb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Palb2
|
APN |
7 |
121,720,271 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation