Incidental Mutation 'R4629:Palb2'
ID 349044
Institutional Source Beutler Lab
Gene Symbol Palb2
Ensembl Gene ENSMUSG00000044702
Gene Name partner and localizer of BRCA2
Synonyms
MMRRC Submission 041894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4629 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 121706485-121732203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121727189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 227 (I227S)
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

DomainStartEndE-ValueType
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: I227S

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: I227S

DomainStartEndE-ValueType
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: I227S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: I227S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000162843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205352
Predicted Effect probably benign
Transcript: ENSMUST00000142952
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik T C 9: 114,108,419 (GRCm39) noncoding transcript Het
Abca6 T C 11: 110,121,375 (GRCm39) probably null Het
Adam22 A G 5: 8,282,663 (GRCm39) S111P possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alg10b C T 15: 90,111,948 (GRCm39) A264V probably benign Het
Angpt1 T A 15: 42,301,796 (GRCm39) Y404F probably benign Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Asic5 T A 3: 81,913,811 (GRCm39) Y162N probably damaging Het
Cacna2d2 A T 9: 107,404,521 (GRCm39) E1104V probably damaging Het
Cad G A 5: 31,227,639 (GRCm39) V1263I probably damaging Het
Cdc20 T C 4: 118,290,761 (GRCm39) E413G probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cubn T A 2: 13,318,790 (GRCm39) probably null Het
Cx3cr1 T C 9: 119,880,730 (GRCm39) N224S probably damaging Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fez2 C T 17: 78,710,183 (GRCm39) S202N probably benign Het
Fras1 A G 5: 96,924,593 (GRCm39) N3678S probably benign Het
Glyr1 A G 16: 4,854,907 (GRCm39) V57A possibly damaging Het
Gm5617 T A 9: 48,407,187 (GRCm39) L107Q possibly damaging Het
Gpnmb A G 6: 49,027,994 (GRCm39) D401G possibly damaging Het
Gtpbp6 C A 5: 110,254,774 (GRCm39) V100L possibly damaging Het
Gucy1a1 A G 3: 82,004,931 (GRCm39) V618A probably damaging Het
H6pd A T 4: 150,080,803 (GRCm39) M14K probably benign Het
Hectd4 A G 5: 121,435,266 (GRCm39) M993V probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kctd21 A G 7: 96,996,782 (GRCm39) D85G probably damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lama1 A G 17: 68,112,355 (GRCm39) probably null Het
Lgr6 T C 1: 135,032,670 (GRCm39) Y70C probably damaging Het
Lipg T A 18: 75,081,107 (GRCm39) K325* probably null Het
Lrrc43 T C 5: 123,637,583 (GRCm39) L250P probably damaging Het
Lyz1 C T 10: 117,127,041 (GRCm39) R65H probably benign Het
Marchf10 T A 11: 105,280,664 (GRCm39) L540F probably benign Het
Maz G T 7: 126,624,519 (GRCm39) H334N possibly damaging Het
Myh1 A G 11: 67,100,119 (GRCm39) K646R probably benign Het
Nf2 A T 11: 4,798,915 (GRCm39) V24E probably damaging Het
Nup210l T C 3: 90,075,182 (GRCm39) S831P probably benign Het
Nup210l C T 3: 90,098,181 (GRCm39) R1378* probably null Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pate3 A T 9: 35,557,453 (GRCm39) C68S probably damaging Het
Pcdha12 T A 18: 37,154,926 (GRCm39) N548K probably damaging Het
Prdm10 C T 9: 31,248,612 (GRCm39) Q345* probably null Het
Ptx4 A T 17: 25,341,737 (GRCm39) N71Y probably damaging Het
Rab42 C T 4: 132,030,548 (GRCm39) R34Q probably benign Het
Rergl A G 6: 139,478,850 (GRCm39) V8A probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rpia A G 6: 70,743,578 (GRCm39) M291T possibly damaging Het
Rplp0 G A 5: 115,699,482 (GRCm39) probably null Het
Rrp12 A T 19: 41,871,955 (GRCm39) I443N probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Saxo1 T C 4: 86,406,064 (GRCm39) Y45C probably damaging Het
Sec24a A T 11: 51,612,640 (GRCm39) probably null Het
Setdb2 A G 14: 59,646,808 (GRCm39) V585A probably benign Het
Sik1 T C 17: 32,068,581 (GRCm39) E347G probably benign Het
Srbd1 T C 17: 86,428,100 (GRCm39) T378A probably damaging Het
Tacr1 A G 6: 82,380,861 (GRCm39) T91A probably benign Het
Tas2r135 T A 6: 42,383,160 (GRCm39) M233K probably benign Het
Tfg A T 16: 56,533,039 (GRCm39) M40K probably damaging Het
Tmem35b C T 4: 127,022,796 (GRCm39) P133S probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Trpv3 A T 11: 73,172,615 (GRCm39) K253N probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc13a A G 8: 72,106,097 (GRCm39) M669T possibly damaging Het
Vmn1r61 T A 7: 5,614,249 (GRCm39) I22F probably benign Het
Vmn2r26 A T 6: 124,038,150 (GRCm39) Q575L possibly damaging Het
Vmn2r81 A T 10: 79,103,276 (GRCm39) E156D probably damaging Het
Vwa3a T A 7: 120,392,598 (GRCm39) N812K probably benign Het
Wasl T C 6: 24,637,680 (GRCm39) R71G probably damaging Het
Wdfy4 A T 14: 32,824,515 (GRCm39) N1301K probably damaging Het
Zfp827 G A 8: 79,787,011 (GRCm39) R59Q probably damaging Het
Zfp87 A G 13: 74,520,512 (GRCm39) C189R probably damaging Het
Other mutations in Palb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TTTGGTCTTGTGCCACCAG -3'
(R):5'- GTCATCTGTTTCACAGGAGAAGG -3'

Sequencing Primer
(F):5'- CACCAGGTTTGTGGATGAAGCC -3'
(R):5'- GCGCTCCTTGGTAAGCATC -3'
Posted On 2015-10-08