Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Palb2'

316254

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2061 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122107262-122132985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122124525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 304 (T304I)

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

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: T667I

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: T667I

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: T667I

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: T667I

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: T304I

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: T304I

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

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,268,314	M395V	probably benign	Het
2610507B11Rik	T	A	11: 78,268,749	C541*	probably null	Het
9130011E15Rik	C	T	19: 45,978,667	R12Q	probably damaging	Het
A4gnt	T	C	9: 99,620,359	S191P	probably damaging	Het
AI314180	G	T	4: 58,824,270	P1116T	probably damaging	Het
Ak2	C	T	4: 129,008,197	A221V	probably damaging	Het
Akap9	T	A	5: 3,961,010	V571E	probably damaging	Het
Amph	G	T	13: 19,125,035	E428*	probably null	Het
Arnt2	T	A	7: 84,343,870	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,926,352	Q202*	probably null	Het
Ate1	A	G	7: 130,510,913	C72R	probably damaging	Het
Atox1	A	G	11: 55,454,898	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,319,066	M3L	probably damaging	Het
BC067074	T	A	13: 113,318,094	W225R	probably damaging	Het
Bfsp1	A	G	2: 143,862,678	V85A	probably benign	Het
Caskin2	C	A	11: 115,803,630	V382F	probably benign	Het
Ccdc39	T	A	3: 33,819,896	M596L	probably damaging	Het
Cd22	C	T	7: 30,870,105	V529M	probably damaging	Het
Cd22	A	C	7: 30,876,156	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,581,334	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,720,818	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,641,604		probably benign	Het
Cebpa	G	T	7: 35,119,522	R35L	probably damaging	Het
Chat	T	C	14: 32,446,873	N235S	probably benign	Het
Col12a1	T	A	9: 79,617,705	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,465,280	E231G	probably damaging	Het
Cryaa	G	T	17: 31,681,055	A151S	probably benign	Het
Dab1	A	T	4: 104,678,741	I116F	probably damaging	Het
Ddx43	C	A	9: 78,396,104	N75K	probably benign	Het
Dmbt1	T	G	7: 131,099,133	C1014G	possibly damaging	Het
Dner	C	A	1: 84,405,989	C558F	probably damaging	Het
Dsc2	A	G	18: 20,032,399	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,527,737	R378*	probably null	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Epha6	T	C	16: 59,655,797	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,604,420		noncoding transcript	Het
Faf1	A	T	4: 109,710,808	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,661,453	V85E	probably damaging	Het
Gadl1	T	A	9: 115,941,380	I87N	probably damaging	Het
Galnt14	A	G	17: 73,512,153	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029	Y141*	probably null	Het
Gdap1	A	T	1: 17,145,465		probably benign	Het
Gfod1	A	T	13: 43,303,243		probably null	Het
Gm14295	C	T	2: 176,810,681	R655*	probably null	Het
Gm4353	A	G	7: 116,083,699	S216P	probably damaging	Het
Gm6605	T	A	7: 38,448,282		noncoding transcript	Het
Hectd1	A	T	12: 51,794,444	D634E	probably damaging	Het
Helz2	A	G	2: 181,240,544	I152T	probably damaging	Het
Hivep1	A	G	13: 42,160,124	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,213,245	F144L	probably benign	Het
Itgae	A	T	11: 73,118,622	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,218,426	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,381,617	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377		probably null	Het
Lbp	T	C	2: 158,324,579	V351A	probably benign	Het
Lss	A	T	10: 76,546,098		probably null	Het
Madd	A	C	2: 91,161,486		probably benign	Het
Map6	G	A	7: 99,317,472	V503I	probably damaging	Het
Mark1	A	G	1: 184,928,063	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,255,976	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,470,068	N5S	probably benign	Het
Mdm4	A	T	1: 133,012,651	F48I	probably damaging	Het
Mga	A	T	2: 119,964,980		probably benign	Het
Mknk2	A	T	10: 80,671,557		probably null	Het
Mmp15	T	C	8: 95,370,779	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,103,288	K879R	probably benign	Het
Mycbp2	T	C	14: 103,287,260	K655E	probably damaging	Het
Nasp	T	C	4: 116,611,126	N221D	probably benign	Het
Ndc80	T	C	17: 71,514,218	E245G	probably benign	Het
Nmral1	C	T	16: 4,716,329	E83K	probably damaging	Het
Noa1	T	A	5: 77,304,187	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,255,752	Y211*	probably null	Het
Olfr1420	T	A	19: 11,896,557	Y179N	probably damaging	Het
Olfr1474	A	G	19: 13,471,241	I90M	probably damaging	Het
Olfr148	G	T	9: 39,613,775	M69I	probably benign	Het
Olfr700	A	C	7: 106,805,768	H231Q	probably benign	Het
Olfr723	T	C	14: 49,929,021	I174M	possibly damaging	Het
Otoa	T	C	7: 121,131,328	F584L	probably damaging	Het
Pcolce2	A	T	9: 95,670,176	M121L	probably benign	Het
Pcsk5	T	C	19: 17,454,872	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,770,160	D731V	probably damaging	Het
Pex11b	C	A	3: 96,635,721	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,877,310	Q398E	probably benign	Het
Pkd1	A	G	17: 24,569,914	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,612,812	N55K	possibly damaging	Het
Plch2	A	T	4: 155,042,841		probably benign	Het
Plcl1	T	A	1: 55,751,345	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,837,329	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,739,230	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,226,174	D23A	probably damaging	Het
Pqlc1	G	T	18: 80,291,715	A232S	probably benign	Het
Prss30	G	A	17: 23,974,668		probably benign	Het
Ptprz1	T	C	6: 23,049,675		probably null	Het
Rec114	T	A	9: 58,652,905		probably benign	Het
Ryr2	T	C	13: 11,665,878		probably null	Het
Ryr3	A	T	2: 112,663,004	I3715N	possibly damaging	Het
Scin	T	C	12: 40,080,948	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,461,308	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,485,651	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,522,795	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,300,711	I179T	probably benign	Het
Slc35b1	T	G	11: 95,385,892	F102V	possibly damaging	Het
Slc6a15	A	G	10: 103,409,734	D526G	probably benign	Het
Spata16	A	G	3: 26,924,370	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,529,584	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,398,152		noncoding transcript	Het
Sufu	T	A	19: 46,397,212	I37N	probably damaging	Het
Tacr1	C	T	6: 82,492,554	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tenm3	C	T	8: 48,342,256		probably null	Het
Tex36	A	T	7: 133,595,223	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,080,028	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,120,286		probably benign	Het
Trim11	A	G	11: 58,982,063	E191G	probably damaging	Het
Ttll3	C	T	6: 113,409,042	A612V	possibly damaging	Het
Ttn	G	A	2: 76,977,122	A89V	probably damaging	Het
Usp37	A	G	1: 74,468,272	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,114,528	V68G	probably benign	Het
Vwf	T	C	6: 125,591,188	S349P	probably damaging	Het
Wt1	G	A	2: 105,131,157		probably null	Het
Zcchc7	T	A	4: 44,895,838	L262H	probably damaging	Het
Zfp873	A	G	10: 82,060,157	S241G	probably benign	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
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
R7040:Palb2	UTSW	7	122114399	missense	possibly damaging	0.88
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'- CAACAGGTAGAGGTGTTGCTTG -3'
(R):5'- TCACTGTTCCACCAGGAGAAG -3'

Sequencing Primer
(F):5'- TTGGGGGCCAGAGTCACTG -3'
(R):5'- TGTTCCACCAGGAGAAGCGTAC -3'

Posted On

2015-05-15