Incidental Mutation 'R7121:Palb2'
| ID |
552008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palb2
|
| Ensembl Gene |
ENSMUSG00000044702 |
| Gene Name |
partner and localizer of BRCA2 |
| Synonyms |
|
| MMRRC Submission |
045210-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121724057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 564
(N564S)
|
| 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 |
probably benign
Transcript: ENSMUST00000098068
AA Change: N564S
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: N564S
| 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: N564S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: N564S
| 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
AA Change: N201S
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: N201S
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,634,853 (GRCm39) |
L137* |
probably null |
Het |
| Akap10 |
A |
G |
11: 61,777,524 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,601,604 (GRCm39) |
Y1683N |
probably damaging |
Het |
| Atl1 |
A |
G |
12: 69,978,408 (GRCm39) |
S127G |
probably damaging |
Het |
| Cadm1 |
G |
A |
9: 47,710,708 (GRCm39) |
V204M |
probably damaging |
Het |
| Cbr3 |
T |
A |
16: 93,487,438 (GRCm39) |
I207N |
probably damaging |
Het |
| Ccdc148 |
A |
T |
2: 58,717,579 (GRCm39) |
Y475N |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,988,167 (GRCm39) |
S144T |
probably benign |
Het |
| Ceacam5 |
C |
A |
7: 17,479,462 (GRCm39) |
A193E |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,119,418 (GRCm39) |
D1042G |
probably benign |
Het |
| Chmp5 |
A |
T |
4: 40,952,217 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,717,567 (GRCm39) |
N467I |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,754,931 (GRCm39) |
V112A |
probably damaging |
Het |
| Dbh |
A |
T |
2: 27,058,318 (GRCm39) |
D162V |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
| Dnm2 |
C |
T |
9: 21,385,862 (GRCm39) |
T295I |
probably benign |
Het |
| Faiml |
A |
C |
9: 99,116,446 (GRCm39) |
D81E |
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,886,477 (GRCm39) |
Y720F |
probably benign |
Het |
| Fn1 |
A |
C |
1: 71,639,697 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,143,123 (GRCm39) |
E397G |
probably damaging |
Het |
| Gm16506 |
T |
C |
14: 43,964,817 (GRCm39) |
K42E |
|
Het |
| Gpr179 |
A |
G |
11: 97,225,556 (GRCm39) |
S2200P |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,028,884 (GRCm39) |
D202G |
probably benign |
Het |
| Hspe1 |
A |
G |
1: 55,128,310 (GRCm39) |
E35G |
probably damaging |
Het |
| Kptn |
T |
A |
7: 15,857,023 (GRCm39) |
H170Q |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,595,839 (GRCm39) |
A923T |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,124,471 (GRCm39) |
I432K |
probably damaging |
Het |
| Maneal |
G |
A |
4: 124,750,905 (GRCm39) |
P284S |
probably benign |
Het |
| Mrgbp |
A |
G |
2: 180,224,682 (GRCm39) |
T28A |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,476,290 (GRCm39) |
V493A |
|
Het |
| Naxd |
T |
C |
8: 11,556,745 (GRCm39) |
L122P |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,397,020 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
A |
11: 58,904,078 (GRCm39) |
R7299* |
probably null |
Het |
| Odf2l |
G |
A |
3: 144,845,581 (GRCm39) |
V363I |
possibly damaging |
Het |
| Or2g25 |
T |
C |
17: 37,970,699 (GRCm39) |
H175R |
probably damaging |
Het |
| Or2t35 |
A |
G |
14: 14,407,998 (GRCm38) |
T257A |
possibly damaging |
Het |
| Or4c100 |
A |
T |
2: 88,356,170 (GRCm39) |
D81V |
probably damaging |
Het |
| Or52a5b |
A |
T |
7: 103,416,940 (GRCm39) |
Y221* |
probably null |
Het |
| Or5b105 |
T |
A |
19: 13,080,537 (GRCm39) |
I44F |
probably benign |
Het |
| Otud3 |
G |
A |
4: 138,624,067 (GRCm39) |
P325L |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,263,761 (GRCm39) |
V401A |
possibly damaging |
Het |
| Plcd4 |
G |
A |
1: 74,604,524 (GRCm39) |
E767K |
probably benign |
Het |
| Ppp3ca |
T |
C |
3: 136,574,387 (GRCm39) |
F95S |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,569,821 (GRCm39) |
T56A |
probably benign |
Het |
| Psma2 |
T |
A |
13: 14,799,815 (GRCm39) |
D186E |
probably benign |
Het |
| Psmd11 |
T |
A |
11: 80,329,099 (GRCm39) |
Y72* |
probably null |
Het |
| Ror1 |
G |
A |
4: 100,160,142 (GRCm39) |
D53N |
probably benign |
Het |
| Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
| Sgca |
G |
A |
11: 94,860,373 (GRCm39) |
P255S |
possibly damaging |
Het |
| Skint11 |
A |
T |
4: 114,084,993 (GRCm39) |
R167S |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,060,661 (GRCm39) |
V20A |
probably benign |
Het |
| Snai2 |
T |
C |
16: 14,524,970 (GRCm39) |
S159P |
probably benign |
Het |
| Taar2 |
T |
G |
10: 23,816,725 (GRCm39) |
S88R |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,824,509 (GRCm39) |
N378K |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,699,647 (GRCm39) |
K342E |
probably benign |
Het |
| Tm9sf3 |
G |
T |
19: 41,233,944 (GRCm39) |
S198* |
probably null |
Het |
| Tmbim4 |
T |
A |
10: 120,051,514 (GRCm39) |
F56I |
possibly damaging |
Het |
| Tsen34 |
T |
A |
7: 3,697,986 (GRCm39) |
S85T |
probably benign |
Het |
| Ttc27 |
C |
A |
17: 75,054,710 (GRCm39) |
Q339K |
probably benign |
Het |
| Ubap2 |
G |
T |
4: 41,205,550 (GRCm39) |
P636T |
probably benign |
Het |
| Ubr1 |
G |
A |
2: 120,705,979 (GRCm39) |
L1495F |
probably benign |
Het |
| Vsig10 |
T |
C |
5: 117,481,967 (GRCm39) |
S386P |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,300,653 (GRCm39) |
R19L |
probably benign |
Het |
| Wsb2 |
T |
C |
5: 117,508,944 (GRCm39) |
L126P |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,211,358 (GRCm39) |
I402V |
probably benign |
Het |
| Yrdc |
A |
G |
4: 124,744,748 (GRCm39) |
S61G |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
| Zfp423 |
C |
T |
8: 88,507,489 (GRCm39) |
G952R |
probably damaging |
Het |
| Zfp646 |
A |
G |
7: 127,478,944 (GRCm39) |
T374A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATGAAGAAAGGTCCTTGC -3'
(R):5'- ACATACACGTGTGAGCCGTG -3'
Sequencing Primer
(F):5'- ATGAAGAAAGGTCCTTGCTCCCTG -3'
(R):5'- ACGTGTGAGCCGTGCATAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation