Mutagenetix > Incidental Mutation

Incidental Mutation 'R7522:Palb2'

582722

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

045594-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121706485-121732203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121712501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 947 (T947A)

Ref Sequence

ENSEMBL: ENSMUSP00000095675 (fasta)

Gene Model

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

AlphaFold

Q3U0P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000063587
AA Change: T227A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063514
Gene: ENSMUSG00000044702
AA Change: T227A

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: T947A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: T947A

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: T947A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: T947A

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: T584A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: T584A

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

Meta Mutation Damage Score

0.1348

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (75/77)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,902,949 (GRCm39)	C82F	unknown	Het
Adam21	G	C	12: 81,605,722 (GRCm39)	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,980,675 (GRCm39)	Y137D	probably benign	Het
Ago3	T	C	4: 126,257,600 (GRCm39)	K477R	probably benign	Het
Ahnak	T	A	19: 8,979,686 (GRCm39)	D323E	probably benign	Het
Amph	A	G	13: 19,270,715 (GRCm39)	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,682,910 (GRCm39)	C106S	probably damaging	Het
Bmp5	A	T	9: 75,683,384 (GRCm39)	T4S	probably benign	Het
Brix1	G	A	15: 10,476,676 (GRCm39)	R267C	probably damaging	Het
Calcrl	G	A	2: 84,203,708 (GRCm39)	S24L	probably benign	Het
Ccdc40	T	G	11: 119,123,047 (GRCm39)	I213R	possibly damaging	Het
Cd300lg	A	G	11: 101,945,028 (GRCm39)	I413V	probably benign	Het
Cdh3	G	A	8: 107,268,005 (GRCm39)	D347N	probably damaging	Het
Clcn3	T	C	8: 61,394,446 (GRCm39)	T55A	probably benign	Het
Cnga4	A	G	7: 105,055,195 (GRCm39)	T260A	probably damaging	Het
Cpne8	G	T	15: 90,486,022 (GRCm39)	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,203,734 (GRCm39)	Y74H	unknown	Het
Cryl1	A	T	14: 57,513,428 (GRCm39)	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,978,370 (GRCm39)		probably benign	Het
Cyp4f39	T	C	17: 32,705,946 (GRCm39)	S346P	probably damaging	Het
Cyria	A	G	12: 12,408,057 (GRCm39)	T28A	possibly damaging	Het
Ddhd1	G	A	14: 45,895,104 (GRCm39)	A122V	possibly damaging	Het
Dnmt1	C	A	9: 20,831,498 (GRCm39)	C662F	probably damaging	Het
E2f6	G	A	12: 16,872,125 (GRCm39)	G190S	probably benign	Het
Esp34	A	T	17: 38,870,432 (GRCm39)	I109F	possibly damaging	Het
Espl1	A	T	15: 102,213,486 (GRCm39)	D604V	probably damaging	Het
Exo1	T	C	1: 175,728,870 (GRCm39)	C645R	probably benign	Het
Fah	A	G	7: 84,246,282 (GRCm39)	V189A	probably benign	Het
Fam184b	A	C	5: 45,688,093 (GRCm39)	Y939D	probably damaging	Het
Fchsd2	T	A	7: 100,908,829 (GRCm39)	L410*	probably null	Het
Gak	A	T	5: 108,739,065 (GRCm39)	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,743,705 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,306,103 (GRCm39)	R165G	probably benign	Het
Hexd	T	C	11: 121,108,923 (GRCm39)	V214A	possibly damaging	Het
Hoxb3	A	T	11: 96,235,507 (GRCm39)	S145C	probably damaging	Het
Il18	A	G	9: 50,486,640 (GRCm39)	Y23C	probably damaging	Het
Itgav	A	T	2: 83,632,373 (GRCm39)	I954F	probably benign	Het
Kcna4	A	G	2: 107,126,600 (GRCm39)	R445G	probably damaging	Het
Kyat3	T	A	3: 142,440,305 (GRCm39)	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,537,117 (GRCm39)	D139V	possibly damaging	Het
Lrp3	C	T	7: 34,903,755 (GRCm39)	G197D	probably damaging	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k4	T	C	17: 12,480,219 (GRCm39)	Q661R	probably benign	Het
Marcks	A	C	10: 37,012,577 (GRCm39)	F153V	unknown	Het
Mocs1	T	C	17: 49,742,292 (GRCm39)		probably null	Het
Naa60	A	G	16: 3,719,768 (GRCm39)	T232A	probably benign	Het
Oosp1	A	T	19: 11,666,065 (GRCm39)	I75N	probably benign	Het
Opn3	A	G	1: 175,493,189 (GRCm39)	V125A	probably benign	Het
Or2ag18	A	G	7: 106,404,994 (GRCm39)	V225A	probably damaging	Het
Or2f1	T	A	6: 42,721,568 (GRCm39)	I199N	probably damaging	Het
Or4c102	A	G	2: 88,423,005 (GRCm39)	T286A	possibly damaging	Het
Or7g27	T	A	9: 19,250,294 (GRCm39)	C179*	probably null	Het
Pde5a	C	T	3: 122,634,648 (GRCm39)	R730*	probably null	Het
Plcl1	T	C	1: 55,735,523 (GRCm39)	I288T	probably benign	Het
Plxnb2	A	G	15: 89,045,977 (GRCm39)	I966T	probably benign	Het
Prkcz	T	C	4: 155,355,742 (GRCm39)	E400G	probably damaging	Het
Prpf8	A	G	11: 75,400,102 (GRCm39)	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,357,920 (GRCm39)	T154P	probably benign	Het
Rel	T	C	11: 23,720,676 (GRCm39)		probably null	Het
Rxylt1	A	G	10: 121,917,344 (GRCm39)	W390R	probably damaging	Het
Serpinb1c	T	A	13: 33,066,200 (GRCm39)	K248N	probably benign	Het
Shkbp1	A	C	7: 27,046,583 (GRCm39)	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,193,076 (GRCm39)	V559A	probably benign	Het
Sox6	A	T	7: 115,400,813 (GRCm39)	F10I	probably damaging	Het
Stkld1	T	C	2: 26,837,259 (GRCm39)	V303A	probably benign	Het
Styk1	T	A	6: 131,289,803 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,654,762 (GRCm39)	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,290,180 (GRCm39)	I270F	possibly damaging	Het
Trak1	A	G	9: 121,271,777 (GRCm39)	E166G	probably damaging	Het
Tsc2	A	T	17: 24,849,939 (GRCm39)	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,042,809 (GRCm39)	M1L	probably benign	Het
Usp50	T	C	2: 126,625,146 (GRCm39)	Y21C	probably damaging	Het
Vmn1r180	C	G	7: 23,652,685 (GRCm39)	P283A	probably damaging	Het
Vmn1r83	A	G	7: 12,055,505 (GRCm39)	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,774,665 (GRCm39)	I230T	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
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
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
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'- CAGCTGTGTATGGCTCTGTC -3'
(R):5'- GCAAGAGTCCAGTGATAAGTCTTC -3'

Sequencing Primer
(F):5'- GCTCTGTCAGCCCCTCG -3'
(R):5'- CTGGGAATTAAACTCAGGACCTCTG -3'

Posted On

2019-10-17