Mutagenetix > Incidental Mutation

Incidental Mutation 'R3872:Phb2'

276607

Institutional Source

Beutler Lab

Gene Symbol

Phb2

Ensembl Gene

ENSMUSG00000004264

Gene Name

prohibitin 2

Synonyms

REA, Bcap37, Bap37, repressor of estrogen receptor activity

MMRRC Submission

040790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124689299-124693913 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 124693394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004375] [ENSMUST00000004375] [ENSMUST00000004377] [ENSMUST00000004379] [ENSMUST00000112484] [ENSMUST00000174265] [ENSMUST00000171549] [ENSMUST00000147974] [ENSMUST00000203238]

AlphaFold

O35129

Predicted Effect

probably null
Transcript: ENSMUST00000004375

SMART Domains

Protein: ENSMUSP00000004375
Gene: ENSMUSG00000004264

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
PHB	39	201	1.01e-46	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000004375

SMART Domains

Protein: ENSMUSP00000004375
Gene: ENSMUSG00000004264

Domain	Start	End	E-Value	Type
low complexity region	18	33	N/A	INTRINSIC
PHB	39	201	1.01e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000004377

SMART Domains

Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	4	87	1.43e-28	SMART
SH2	110	202	1.45e-29	SMART
PTPc	245	519	7.51e-131	SMART
low complexity region	571	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000004379

SMART Domains

Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268

Domain	Start	End	E-Value	Type
Pfam:EMG1	45	238	2.9e-87	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083540

Predicted Effect

probably benign
Transcript: ENSMUST00000112484

SMART Domains

Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	2	85	4.05e-28	SMART
SH2	108	200	1.45e-29	SMART
PTPc	243	517	7.51e-131	SMART
low complexity region	569	579	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124779

Predicted Effect

probably null
Transcript: ENSMUST00000130279

SMART Domains

Protein: ENSMUSP00000121535
Gene: ENSMUSG00000004264

Domain	Start	End	E-Value	Type
Blast:PHB	2	82	5e-45	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000130279

SMART Domains

Protein: ENSMUSP00000121535
Gene: ENSMUSG00000004264

Domain	Start	End	E-Value	Type
Blast:PHB	2	82	5e-45	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189387

Predicted Effect

probably benign
Transcript: ENSMUST00000174265

SMART Domains

Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
Pfam:SH2	1	40	3.5e-6	PFAM
SH2	69	161	1.45e-29	SMART
PTPc	204	478	7.51e-131	SMART
low complexity region	530	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173315

SMART Domains

Protein: ENSMUSP00000134274
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SCOP:d1eeoa_	2	38	1e-3	SMART
PDB:3PS5\|A	2	91	2e-41	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000171549

SMART Domains

Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	4	87	1.43e-28	SMART
SH2	110	202	1.45e-29	SMART
PTPc	245	519	7.51e-131	SMART
low complexity region	571	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147974

SMART Domains

Protein: ENSMUSP00000119316
Gene: ENSMUSG00000004264

Domain	Start	End	E-Value	Type
PHB	1	103	3.22e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203238

SMART Domains

Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268

Domain	Start	End	E-Value	Type
Pfam:EMG1	55	122	1e-33	PFAM

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Homozygous mutant embryos die before E9. Heterozygous females exhibit a greater gain in body weight from 9-26 weeks of age and reduced litter sizes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,045 (GRCm39)	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201 (GRCm39)		noncoding transcript	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cic	T	C	7: 24,971,124 (GRCm39)	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,614,408 (GRCm39)		probably benign	Het
Col6a4	T	C	9: 105,890,858 (GRCm39)	N1812S	possibly damaging	Het
Cry1	T	C	10: 84,969,024 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209 (GRCm39)	P274T	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,656 (GRCm39)	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,926,056 (GRCm39)	Y710C	probably damaging	Het
Dsc3	C	A	18: 20,104,565 (GRCm39)	K587N	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Epcam	C	A	17: 87,947,354 (GRCm39)	T36K	possibly damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
Eya4	A	T	10: 23,031,870 (GRCm39)	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,138,394 (GRCm39)	V447I	possibly damaging	Het
Firrm	A	T	1: 163,814,533 (GRCm39)	S137T	probably damaging	Het
Frg2f1	T	A	4: 119,388,155 (GRCm39)	T115S	possibly damaging	Het
Hecw2	A	T	1: 53,871,916 (GRCm39)		probably benign	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Iqca1	A	T	1: 90,017,203 (GRCm39)	Y411N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt34	T	C	11: 99,932,243 (GRCm39)	H27R	probably benign	Het
Mia3	T	C	1: 183,138,342 (GRCm39)	E791G	probably benign	Het
Mroh2b	A	T	15: 4,954,543 (GRCm39)	K669*	probably null	Het
Msmo1	C	T	8: 65,175,497 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,226,867 (GRCm39)	T1387A	probably benign	Het
Myo1g	C	T	11: 6,464,886 (GRCm39)	V463I	possibly damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Pde10a	C	A	17: 8,975,923 (GRCm39)	T16K	possibly damaging	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Plin3	A	G	17: 56,591,181 (GRCm39)	S200P	probably damaging	Het
Plxna1	C	A	6: 89,309,674 (GRCm39)	E1087*	probably null	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Sacs	C	T	14: 61,385,517 (GRCm39)	T6M	probably benign	Het
Scfd1	A	G	12: 51,438,979 (GRCm39)	Y147C	probably damaging	Het
Septin1	T	C	7: 126,814,447 (GRCm39)		probably benign	Het
Septin5	A	G	16: 18,441,723 (GRCm39)	L344P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc35f1	A	G	10: 52,898,006 (GRCm39)	D139G	possibly damaging	Het
Sod3	A	G	5: 52,525,631 (GRCm39)	Y110C	probably damaging	Het
Stk35	T	C	2: 129,652,495 (GRCm39)	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,224,152 (GRCm39)	T279M	probably benign	Het
Tdo2	T	C	3: 81,875,393 (GRCm39)	E187G	probably benign	Het
Tmem150b	A	T	7: 4,727,360 (GRCm39)	Y48*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 41,785,878 (GRCm39)	S227L	probably benign	Het
Vps33a	C	T	5: 123,669,255 (GRCm39)	V549I	probably benign	Het
Zfp788	T	A	7: 41,298,868 (GRCm39)	Y449*	probably null	Het

Other mutations in Phb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01707:Phb2	APN	6	124,690,998 (GRCm39)	missense	probably benign
R4686:Phb2	UTSW	6	124,690,105 (GRCm39)	critical splice donor site	probably null
R4730:Phb2	UTSW	6	124,690,086 (GRCm39)	missense	probably damaging	1.00
R5503:Phb2	UTSW	6	124,689,985 (GRCm39)	unclassified	probably benign
R5930:Phb2	UTSW	6	124,692,612 (GRCm39)	missense	probably damaging	1.00
R6428:Phb2	UTSW	6	124,692,954 (GRCm39)	missense	probably benign	0.00
R7780:Phb2	UTSW	6	124,692,995 (GRCm39)	critical splice donor site	probably null
R8692:Phb2	UTSW	6	124,692,097 (GRCm39)	missense	probably damaging	0.99
R9625:Phb2	UTSW	6	124,690,974 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGACTGGTAGCAATTTCACGTG -3'
(R):5'- GGGGTTCTTGATGTCCACACTC -3'

Sequencing Primer
(F):5'- CTGGTAGCAATTTCACGTGAGACC -3'
(R):5'- ACCCTTAATGAGGCTGTCACTGG -3'

Posted On

2015-04-06