Mutagenetix > Incidental Mutation

Incidental Mutation 'R5563:Atp7b'

436704

Institutional Source

Beutler Lab

Gene Symbol

Atp7b

Ensembl Gene

ENSMUSG00000006567

Gene Name

ATPase, Cu++ transporting, beta polypeptide

Synonyms

Atp7a, WND, Wilson protein

MMRRC Submission

043120-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R5563 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22482801-22550321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22518730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 36 (P36L)

Ref Sequence

ENSEMBL: ENSMUSP00000006742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006742] [ENSMUST00000110738]

AlphaFold

Q64446

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006742
AA Change: P36L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006742
Gene: ENSMUSG00000006567
AA Change: P36L

Domain	Start	End	E-Value	Type
Pfam:HMA	71	132	8.8e-14	PFAM
Pfam:HMA	156	217	6.6e-13	PFAM
Pfam:HMA	271	329	7.4e-13	PFAM
Pfam:HMA	364	425	1.1e-10	PFAM
Pfam:HMA	493	554	2.3e-14	PFAM
Pfam:HMA	569	630	3.1e-15	PFAM
transmembrane domain	656	675	N/A	INTRINSIC
Pfam:E1-E2_ATPase	770	1018	3.3e-60	PFAM
Pfam:Hydrolase	1023	1276	1.3e-67	PFAM
Pfam:HAD	1026	1273	4.6e-10	PFAM
Pfam:Hydrolase_3	1243	1308	5.1e-7	PFAM
transmembrane domain	1322	1344	N/A	INTRINSIC
low complexity region	1353	1370	N/A	INTRINSIC
low complexity region	1418	1437	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110738
AA Change: P24L

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106366
Gene: ENSMUSG00000006567
AA Change: P24L

Domain	Start	End	E-Value	Type
Pfam:HMA	59	120	1.2e-13	PFAM
Pfam:HMA	144	205	9.7e-12	PFAM
PDB:2AW0\|A	259	314	6e-6	PDB
Pfam:HMA	378	439	1.6e-13	PFAM
Pfam:HMA	454	515	1.5e-15	PFAM
transmembrane domain	541	560	N/A	INTRINSIC
Pfam:E1-E2_ATPase	656	904	4.6e-50	PFAM
Pfam:Hydrolase	908	1161	6.6e-76	PFAM
Pfam:HAD	911	1158	1.5e-15	PFAM
Pfam:Hydrolase_3	1128	1193	8.5e-7	PFAM
transmembrane domain	1207	1229	N/A	INTRINSIC
low complexity region	1238	1255	N/A	INTRINSIC
low complexity region	1303	1322	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of the mouse gene results in copper accumulation in various organs, primarily the liver, kidney and brain, and a form of liver cirrhosis that resembles Wilson disease in humans and the 'toxic milk' phenotype in mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	C	T	5: 100,960,040 (GRCm39)	R104H	possibly damaging	Het
Actn3	T	C	19: 4,922,344 (GRCm39)	H101R	probably damaging	Het
Akp3	T	C	1: 87,053,646 (GRCm39)	S174P	probably damaging	Het
Aldh5a1	C	A	13: 25,102,609 (GRCm39)	A285S	possibly damaging	Het
Cdh20	C	T	1: 104,875,082 (GRCm39)	P288L	probably benign	Het
Fktn	T	A	4: 53,761,327 (GRCm39)	N481K	probably damaging	Het
Fmo5	C	A	3: 97,546,207 (GRCm39)	H173Q	probably damaging	Het
Fnip1	A	G	11: 54,395,688 (GRCm39)	R1021G	probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grin2a	A	G	16: 9,525,581 (GRCm39)	F337L	probably benign	Het
Ighv3-1	T	A	12: 113,928,206 (GRCm39)	Y51F	probably benign	Het
Jcad	A	G	18: 4,673,944 (GRCm39)	K569E	possibly damaging	Het
Mars1	T	C	10: 127,144,530 (GRCm39)	Q170R	probably benign	Het
Mfsd4b2	C	T	10: 39,798,038 (GRCm39)	E106K	probably benign	Het
Mical2	A	G	7: 111,914,185 (GRCm39)	D285G	probably damaging	Het
Mpp4	A	G	1: 59,163,788 (GRCm39)		probably null	Het
Npat	A	G	9: 53,474,427 (GRCm39)	I740V	probably damaging	Het
Parp6	G	A	9: 59,535,956 (GRCm39)		probably null	Het
Plin2	T	C	4: 86,580,341 (GRCm39)	K140R	probably benign	Het
Prdm2	T	C	4: 142,861,200 (GRCm39)	T697A	probably benign	Het
Prkaa1	A	G	15: 5,199,437 (GRCm39)	E179G	probably damaging	Het
Prtg	G	A	9: 72,764,180 (GRCm39)	R551H	probably damaging	Het
Psd4	A	G	2: 24,284,897 (GRCm39)	R254G	probably benign	Het
Rhpn2	T	A	7: 35,070,652 (GRCm39)	L194H	probably damaging	Het
Sp7	T	C	15: 102,267,755 (GRCm39)	D17G	possibly damaging	Het
Topbp1	T	C	9: 103,188,712 (GRCm39)	V128A	possibly damaging	Het
Uba5	G	T	9: 103,926,446 (GRCm39)	T372K	probably benign	Het
Vmn2r13	T	A	5: 109,321,846 (GRCm39)	I284L	probably benign	Het
Vmn2r68	T	C	7: 84,871,283 (GRCm39)	T667A	probably damaging	Het

Other mutations in Atp7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Atp7b	APN	8	22,501,114 (GRCm39)	missense	possibly damaging	0.91
IGL00981:Atp7b	APN	8	22,517,543 (GRCm39)	splice site	probably null
IGL01600:Atp7b	APN	8	22,517,541 (GRCm39)	splice site	probably null
IGL01713:Atp7b	APN	8	22,518,589 (GRCm39)	missense	probably damaging	1.00
IGL01778:Atp7b	APN	8	22,484,844 (GRCm39)	missense	probably benign	0.42
IGL01926:Atp7b	APN	8	22,501,797 (GRCm39)	missense	probably damaging	0.98
IGL02312:Atp7b	APN	8	22,484,786 (GRCm39)	missense	probably damaging	0.99
IGL02562:Atp7b	APN	8	22,518,101 (GRCm39)	missense	probably benign
IGL02573:Atp7b	APN	8	22,512,486 (GRCm39)	missense	probably benign	0.00
IGL02603:Atp7b	APN	8	22,484,792 (GRCm39)	missense	possibly damaging	0.88
IGL02622:Atp7b	APN	8	22,518,454 (GRCm39)	missense	possibly damaging	0.69
IGL02721:Atp7b	APN	8	22,512,493 (GRCm39)	missense	probably benign	0.00
IGL03145:Atp7b	APN	8	22,508,159 (GRCm39)	missense	probably damaging	1.00
daffodil	UTSW	8	22,488,282 (GRCm39)	missense	probably damaging	1.00
menace	UTSW	8	22,512,381 (GRCm39)	missense	probably damaging	0.97
PIT4131001:Atp7b	UTSW	8	22,484,672 (GRCm39)	missense	probably damaging	1.00
R0023:Atp7b	UTSW	8	22,501,089 (GRCm39)	missense	probably damaging	1.00
R0046:Atp7b	UTSW	8	22,550,011 (GRCm39)	missense	probably benign	0.00
R0128:Atp7b	UTSW	8	22,518,188 (GRCm39)	missense	possibly damaging	0.47
R0130:Atp7b	UTSW	8	22,518,188 (GRCm39)	missense	possibly damaging	0.47
R0325:Atp7b	UTSW	8	22,518,467 (GRCm39)	missense	probably benign	0.22
R0412:Atp7b	UTSW	8	22,485,675 (GRCm39)	splice site	probably null
R0856:Atp7b	UTSW	8	22,487,647 (GRCm39)	missense	probably damaging	1.00
R0906:Atp7b	UTSW	8	22,517,842 (GRCm39)	missense	probably benign
R0989:Atp7b	UTSW	8	22,518,710 (GRCm39)	missense	possibly damaging	0.51
R1377:Atp7b	UTSW	8	22,501,801 (GRCm39)	missense	probably benign	0.17
R1517:Atp7b	UTSW	8	22,487,374 (GRCm39)	missense	probably damaging	1.00
R1521:Atp7b	UTSW	8	22,517,689 (GRCm39)	missense	probably damaging	0.96
R1529:Atp7b	UTSW	8	22,518,740 (GRCm39)	missense	possibly damaging	0.87
R1691:Atp7b	UTSW	8	22,501,039 (GRCm39)	missense	possibly damaging	0.90
R1743:Atp7b	UTSW	8	22,496,403 (GRCm39)	missense	probably damaging	1.00
R1815:Atp7b	UTSW	8	22,501,667 (GRCm39)	missense	possibly damaging	0.80
R2008:Atp7b	UTSW	8	22,517,996 (GRCm39)	missense	probably damaging	1.00
R2133:Atp7b	UTSW	8	22,501,093 (GRCm39)	missense	probably damaging	1.00
R2155:Atp7b	UTSW	8	22,503,600 (GRCm39)	missense	possibly damaging	0.69
R2182:Atp7b	UTSW	8	22,504,563 (GRCm39)	missense	probably damaging	0.99
R2256:Atp7b	UTSW	8	22,488,282 (GRCm39)	missense	probably damaging	1.00
R2257:Atp7b	UTSW	8	22,488,282 (GRCm39)	missense	probably damaging	1.00
R2274:Atp7b	UTSW	8	22,510,848 (GRCm39)	missense	probably benign	0.20
R2475:Atp7b	UTSW	8	22,484,792 (GRCm39)	missense	possibly damaging	0.88
R2906:Atp7b	UTSW	8	22,501,570 (GRCm39)	missense	probably damaging	1.00
R2907:Atp7b	UTSW	8	22,501,570 (GRCm39)	missense	probably damaging	1.00
R3421:Atp7b	UTSW	8	22,518,686 (GRCm39)	missense	probably damaging	1.00
R3422:Atp7b	UTSW	8	22,518,686 (GRCm39)	missense	probably damaging	1.00
R3688:Atp7b	UTSW	8	22,494,246 (GRCm39)	missense	probably damaging	1.00
R3945:Atp7b	UTSW	8	22,510,880 (GRCm39)	missense	probably benign	0.02
R4235:Atp7b	UTSW	8	22,501,039 (GRCm39)	missense	possibly damaging	0.90
R4700:Atp7b	UTSW	8	22,490,137 (GRCm39)	missense	probably benign	0.00
R4701:Atp7b	UTSW	8	22,490,137 (GRCm39)	missense	probably benign	0.00
R4877:Atp7b	UTSW	8	22,518,617 (GRCm39)	missense	probably damaging	0.98
R4962:Atp7b	UTSW	8	22,510,901 (GRCm39)	missense	probably damaging	1.00
R5009:Atp7b	UTSW	8	22,517,714 (GRCm39)	missense	possibly damaging	0.88
R5016:Atp7b	UTSW	8	22,505,885 (GRCm39)	splice site	probably null
R5038:Atp7b	UTSW	8	22,518,472 (GRCm39)	missense	possibly damaging	0.67
R5438:Atp7b	UTSW	8	22,504,570 (GRCm39)	missense	probably benign
R5467:Atp7b	UTSW	8	22,501,570 (GRCm39)	missense	probably damaging	1.00
R5468:Atp7b	UTSW	8	22,549,986 (GRCm39)	critical splice donor site	probably null
R5512:Atp7b	UTSW	8	22,502,755 (GRCm39)	missense	probably benign	0.20
R5751:Atp7b	UTSW	8	22,508,144 (GRCm39)	missense	probably damaging	1.00
R5773:Atp7b	UTSW	8	22,517,879 (GRCm39)	missense	probably benign
R5941:Atp7b	UTSW	8	22,487,512 (GRCm39)	missense	probably damaging	0.98
R6227:Atp7b	UTSW	8	22,510,841 (GRCm39)	missense	possibly damaging	0.63
R6265:Atp7b	UTSW	8	22,505,943 (GRCm39)	nonsense	probably null
R6290:Atp7b	UTSW	8	22,510,836 (GRCm39)	missense	probably damaging	1.00
R6368:Atp7b	UTSW	8	22,510,771 (GRCm39)	splice site	probably null
R6647:Atp7b	UTSW	8	22,518,494 (GRCm39)	missense	probably damaging	1.00
R6788:Atp7b	UTSW	8	22,494,391 (GRCm39)	missense	probably benign	0.37
R6830:Atp7b	UTSW	8	22,512,381 (GRCm39)	missense	probably damaging	0.97
R6886:Atp7b	UTSW	8	22,518,706 (GRCm39)	missense	probably benign	0.01
R6928:Atp7b	UTSW	8	22,484,828 (GRCm39)	missense	probably benign
R6965:Atp7b	UTSW	8	22,518,101 (GRCm39)	missense	probably benign
R7203:Atp7b	UTSW	8	22,487,351 (GRCm39)	missense	probably damaging	1.00
R7222:Atp7b	UTSW	8	22,512,394 (GRCm39)	nonsense	probably null
R7344:Atp7b	UTSW	8	22,487,515 (GRCm39)	missense	probably damaging	1.00
R7384:Atp7b	UTSW	8	22,512,331 (GRCm39)	missense	probably benign	0.01
R7449:Atp7b	UTSW	8	22,501,865 (GRCm39)	missense	probably damaging	0.98
R7451:Atp7b	UTSW	8	22,504,700 (GRCm39)	nonsense	probably null
R7607:Atp7b	UTSW	8	22,501,522 (GRCm39)	missense	probably damaging	1.00
R8140:Atp7b	UTSW	8	22,518,576 (GRCm39)	missense	probably damaging	1.00
R8160:Atp7b	UTSW	8	22,487,575 (GRCm39)	missense	probably damaging	0.98
R8349:Atp7b	UTSW	8	22,503,556 (GRCm39)	missense	probably damaging	1.00
R8421:Atp7b	UTSW	8	22,518,487 (GRCm39)	missense	probably benign	0.01
R8449:Atp7b	UTSW	8	22,503,556 (GRCm39)	missense	probably damaging	1.00
R8749:Atp7b	UTSW	8	22,518,334 (GRCm39)	missense	probably damaging	0.96
R8989:Atp7b	UTSW	8	22,510,911 (GRCm39)	missense	probably benign	0.06
R9210:Atp7b	UTSW	8	22,487,406 (GRCm39)	missense	probably damaging	1.00
R9353:Atp7b	UTSW	8	22,517,890 (GRCm39)	missense	possibly damaging	0.78
R9462:Atp7b	UTSW	8	22,490,160 (GRCm39)	missense	probably damaging	0.99
R9485:Atp7b	UTSW	8	22,502,778 (GRCm39)	missense	probably damaging	0.99
Z1176:Atp7b	UTSW	8	22,518,730 (GRCm39)	missense	probably benign	0.07
Z1177:Atp7b	UTSW	8	22,484,893 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGACACCTTGATGTTCACAATG -3'
(R):5'- GATTTCTAAGCCCAGGGACAG -3'

Sequencing Primer
(F):5'- GTTCACAATGCCTTTCAGACTGGAG -3'
(R):5'- CAGACCTTCTGTAGAGTTATAGGG -3'

Posted On

2016-10-24