Incidental Mutation 'IGL03030:Palb2'
| ID |
408363 |
| 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 # |
IGL03030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121712479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 591
(V591A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063587]
[ENSMUST00000098068]
[ENSMUST00000106468]
[ENSMUST00000106469]
[ENSMUST00000131657]
[ENSMUST00000142952]
|
| AlphaFold |
Q3U0P1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063587
AA Change: V234A
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000063514
Gene: ENSMUSG00000044702
AA Change: V234A
| 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 damaging
Transcript: ENSMUST00000098068
AA Change: V954A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: V954A
| 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 damaging
Transcript: ENSMUST00000106468
AA Change: V954A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: V954A
| 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 damaging
Transcript: ENSMUST00000106469
AA Change: V591A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: V591A
| 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 |
probably benign
Transcript: ENSMUST00000131657
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154508
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,145,057 (GRCm39) |
V367A |
possibly damaging |
Het |
| Abcb5 |
A |
T |
12: 118,904,104 (GRCm39) |
S200R |
possibly damaging |
Het |
| Adam29 |
T |
C |
8: 56,326,100 (GRCm39) |
D118G |
probably damaging |
Het |
| Adh4 |
A |
G |
3: 138,134,906 (GRCm39) |
D360G |
probably benign |
Het |
| Ankle2 |
A |
G |
5: 110,399,476 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Ankra2 |
C |
T |
13: 98,409,881 (GRCm39) |
|
probably benign |
Het |
| Ap1g2 |
T |
A |
14: 55,343,504 (GRCm39) |
I28F |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,961,015 (GRCm39) |
T1608I |
possibly damaging |
Het |
| Cacnb4 |
T |
C |
2: 52,364,894 (GRCm39) |
D123G |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,212,123 (GRCm39) |
T51M |
probably benign |
Het |
| Ccdc63 |
A |
G |
5: 122,260,876 (GRCm39) |
V216A |
probably benign |
Het |
| Ccnd2 |
A |
G |
6: 127,125,841 (GRCm39) |
V65A |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,511,113 (GRCm38) |
S434P |
probably damaging |
Het |
| Chd3 |
T |
A |
11: 69,245,230 (GRCm39) |
T1163S |
possibly damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,823 (GRCm39) |
|
probably benign |
Het |
| Cobl |
G |
T |
11: 12,204,241 (GRCm39) |
N813K |
possibly damaging |
Het |
| Cog5 |
G |
A |
12: 31,840,921 (GRCm39) |
V249M |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,182,080 (GRCm39) |
N98S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,005,463 (GRCm39) |
D608G |
unknown |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,648 (GRCm39) |
I1454N |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,136,237 (GRCm39) |
V603A |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,569,332 (GRCm39) |
|
probably benign |
Het |
| Ficd |
G |
A |
5: 113,874,990 (GRCm39) |
V20I |
probably benign |
Het |
| Gatad2b |
G |
T |
3: 90,249,244 (GRCm39) |
G94V |
probably benign |
Het |
| Gm4845 |
G |
A |
1: 141,184,403 (GRCm39) |
|
noncoding transcript |
Het |
| Hrnr |
G |
A |
3: 93,227,908 (GRCm39) |
V9I |
possibly damaging |
Het |
| Kifc3 |
A |
G |
8: 95,829,040 (GRCm39) |
S584P |
probably damaging |
Het |
| Klk1b24 |
C |
A |
7: 43,840,790 (GRCm39) |
Q73K |
probably benign |
Het |
| Lrp10 |
C |
A |
14: 54,706,619 (GRCm39) |
N518K |
possibly damaging |
Het |
| Lsr |
A |
G |
7: 30,658,706 (GRCm39) |
V247A |
possibly damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,862 (GRCm39) |
M1K |
probably null |
Het |
| Mprip |
T |
A |
11: 59,631,941 (GRCm39) |
|
probably null |
Het |
| Myo3b |
G |
T |
2: 70,257,160 (GRCm39) |
|
probably benign |
Het |
| Oprd1 |
A |
G |
4: 131,844,696 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or1l4 |
T |
C |
2: 37,091,883 (GRCm39) |
V210A |
probably benign |
Het |
| Or2g1 |
T |
A |
17: 38,107,162 (GRCm39) |
Y276N |
probably damaging |
Het |
| Or4b1d |
A |
T |
2: 89,969,006 (GRCm39) |
I159N |
possibly damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,416 (GRCm39) |
T240A |
probably damaging |
Het |
| Or5b109 |
C |
T |
19: 13,212,418 (GRCm39) |
S268L |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,786 (GRCm39) |
D372V |
probably damaging |
Het |
| Phc3 |
A |
G |
3: 30,991,002 (GRCm39) |
V405A |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,513,796 (GRCm39) |
|
probably benign |
Het |
| Pik3ip1 |
A |
G |
11: 3,283,259 (GRCm39) |
K57E |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,455,372 (GRCm39) |
M4044I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,460,298 (GRCm39) |
V4169A |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,049,963 (GRCm39) |
I313F |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,179,160 (GRCm39) |
T952S |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,962,730 (GRCm39) |
I178N |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rapgef2 |
C |
A |
3: 78,981,614 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,269,311 (GRCm39) |
D538G |
probably damaging |
Het |
| Rnf44 |
G |
A |
13: 54,829,803 (GRCm39) |
R312* |
probably null |
Het |
| Rock1 |
T |
C |
18: 10,070,215 (GRCm39) |
|
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,275,875 (GRCm39) |
E474G |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,699,365 (GRCm39) |
I2959F |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,850,803 (GRCm39) |
S801P |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,870,153 (GRCm39) |
I602V |
probably benign |
Het |
| Slc6a19 |
C |
A |
13: 73,848,590 (GRCm39) |
V55L |
probably damaging |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,966,964 (GRCm39) |
V440F |
probably damaging |
Het |
| Vmn1r236 |
G |
A |
17: 21,507,108 (GRCm39) |
W75* |
probably null |
Het |
| Vmn2r52 |
A |
G |
7: 9,892,799 (GRCm39) |
F780S |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,217,149 (GRCm39) |
A494S |
possibly damaging |
Het |
| Vwa3b |
A |
T |
1: 37,084,049 (GRCm39) |
K74M |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,738,989 (GRCm39) |
I1037F |
possibly damaging |
Het |
| Zfp13 |
T |
C |
17: 23,799,819 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,890 (GRCm39) |
E64G |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation