Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Palb2'

546998

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122107262-122132985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122114399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 524 (M524K)

Ref Sequence

ENSEMBL: ENSMUSP00000102077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063587] [ENSMUST00000098068] [ENSMUST00000106468] [ENSMUST00000106469] [ENSMUST00000131657] [ENSMUST00000142952]

AlphaFold

Q3U0P1

Predicted Effect

probably benign
Transcript: ENSMUST00000063587
AA Change: M167K

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000063514
Gene: ENSMUSG00000044702
AA Change: M167K

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: M887K

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: M887K

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: M887K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: M887K

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: M524K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: M524K

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Uimc1	T	A	13: 55,075,454		probably null	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Palb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Palb2	APN	7	122121048	splice site	probably benign
IGL00232:Palb2	APN	7	122121064	missense	probably damaging	0.99
IGL02171:Palb2	APN	7	122107586	missense	probably damaging	1.00
IGL03030:Palb2	APN	7	122113256	missense	probably damaging	1.00
IGL03102:Palb2	APN	7	122124499	missense	possibly damaging	0.88
R0128:Palb2	UTSW	7	122128166	nonsense	probably null
R1192:Palb2	UTSW	7	122128209	missense	probably benign	0.11
R1470:Palb2	UTSW	7	122107523	missense	probably benign	0.01
R1470:Palb2	UTSW	7	122107524	nonsense	probably null
R1470:Palb2	UTSW	7	122107523	missense	probably benign	0.01
R1470:Palb2	UTSW	7	122107524	nonsense	probably null
R1575:Palb2	UTSW	7	122110838	splice site	probably null
R1664:Palb2	UTSW	7	122124392	utr 3 prime	probably benign
R1852:Palb2	UTSW	7	122114314	missense	possibly damaging	0.93
R1984:Palb2	UTSW	7	122127080	missense	probably damaging	0.96
R2061:Palb2	UTSW	7	122124525	missense	possibly damaging	0.86
R2121:Palb2	UTSW	7	122127781	missense	possibly damaging	0.61
R2877:Palb2	UTSW	7	122114429	missense	probably damaging	0.97
R2878:Palb2	UTSW	7	122114429	missense	probably damaging	0.97
R3923:Palb2	UTSW	7	122117360	splice site	probably null
R4609:Palb2	UTSW	7	122124723	missense	probably benign	0.16
R4629:Palb2	UTSW	7	122127966	missense	possibly damaging	0.89
R4678:Palb2	UTSW	7	122127366	missense	probably damaging	0.99
R5111:Palb2	UTSW	7	122117305	nonsense	probably null
R5381:Palb2	UTSW	7	122128413	missense	probably benign	0.06
R5470:Palb2	UTSW	7	122114351	missense	probably damaging	1.00
R5793:Palb2	UTSW	7	122127637	missense	probably benign	0.05
R6160:Palb2	UTSW	7	122128420	splice site	probably null
R6630:Palb2	UTSW	7	122124529	missense	probably damaging	0.97
R6783:Palb2	UTSW	7	122127488	missense	probably damaging	1.00
R6897:Palb2	UTSW	7	122127047	critical splice donor site	probably null
R7121:Palb2	UTSW	7	122124834	missense	probably benign	0.18
R7438:Palb2	UTSW	7	122117331	missense	probably damaging	0.96
R7522:Palb2	UTSW	7	122113278	missense	probably damaging	1.00
R7583:Palb2	UTSW	7	122127342	missense	probably benign	0.15
R7679:Palb2	UTSW	7	122128014	missense	probably benign	0.00
R7769:Palb2	UTSW	7	122128415	missense	probably benign	0.11
R7802:Palb2	UTSW	7	122110896	splice site	probably null
R8271:Palb2	UTSW	7	122124874	missense	probably damaging	0.99
R8428:Palb2	UTSW	7	122112001	missense	possibly damaging	0.54
R8725:Palb2	UTSW	7	122111661	missense	unknown
R8927:Palb2	UTSW	7	122124598	missense	probably damaging	1.00
R8928:Palb2	UTSW	7	122124598	missense	probably damaging	1.00
R9509:Palb2	UTSW	7	122128176	missense	probably damaging	0.99
R9663:Palb2	UTSW	7	122127081	missense	probably benign	0.14
X0060:Palb2	UTSW	7	122114478	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCTGCAATGTGGCATTAAG -3'
(R):5'- TGTGTAGACTGACATCTGTGACTG -3'

Sequencing Primer
(F):5'- CAGAGATCAGGTTCCTAGGCATC -3'
(R):5'- ACTGACATCTGTGACTGAAGTTGC -3'

Posted On

2019-05-13