Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Palb2'

187020

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121706485-121732203 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 121723615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123041 (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

silent
Transcript: ENSMUST00000098068

SMART Domains

Protein: ENSMUSP00000095675
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
low complexity region	543	559	N/A	INTRINSIC
Pfam:PALB2_WD40	755	1102	2.4e-183	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000106468

SMART Domains

Protein: ENSMUSP00000102076
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
low complexity region	543	559	N/A	INTRINSIC
PDB:3EU7\|A	753	984	1e-131	PDB

Predicted Effect

silent
Transcript: ENSMUST00000106469

SMART Domains

Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,306,551 (GRCm39)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,550,987 (GRCm39)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm39)	R90G	probably benign	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Pcdh20	T	C	14: 88,705,758 (GRCm39)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Pkp3	A	G	7: 140,667,560 (GRCm39)	N454D	probably damaging	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,831,172 (GRCm39)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	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
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

Predicted Primers

Posted On

2014-05-09