Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Rhbdl2'

325742

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl2

Ensembl Gene

ENSMUSG00000043333

Gene Name

rhomboid like 2

Synonyms

MMRRC Submission

041114-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123681667-123723697 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 123703728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000101810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053202] [ENSMUST00000106204]

AlphaFold

A2AGA4

Predicted Effect

probably null
Transcript: ENSMUST00000053202
AA Change: M1K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Rhomboid	113	268	7.1e-39	PFAM
transmembrane domain	277	299	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106204
AA Change: M1K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: M1K

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
transmembrane domain	68	90	N/A	INTRINSIC
Pfam:Rhomboid	113	268	1.8e-38	PFAM
transmembrane domain	277	299	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150286

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,752,860 (GRCm39)	T396P	probably damaging	Het
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,410,589 (GRCm39)	D119A	probably benign	Het
App	G	T	16: 84,853,321 (GRCm39)	D252E	unknown	Het
C4a	T	A	17: 35,033,885 (GRCm39)		noncoding transcript	Het
Cacna1b	T	C	2: 24,592,632 (GRCm39)	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Cldn6	G	C	17: 23,900,494 (GRCm39)	A153P	probably benign	Het
Cmya5	T	C	13: 93,228,464 (GRCm39)	N2208S	probably benign	Het
Csnk1g1	A	G	9: 65,927,135 (GRCm39)	T101A	probably benign	Het
Ddx46	T	A	13: 55,811,049 (GRCm39)	D544E	probably benign	Het
Dmxl1	T	A	18: 50,011,084 (GRCm39)	C1080*	probably null	Het
Dst	T	C	1: 34,290,959 (GRCm39)	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,446,771 (GRCm39)	K313R	probably damaging	Het
Elf2	G	A	3: 51,215,570 (GRCm39)	Q47*	probably null	Het
Epc2	A	G	2: 49,437,566 (GRCm39)	K657E	possibly damaging	Het
Ephx4	A	G	5: 107,551,679 (GRCm39)		probably benign	Het
Ereg	T	C	5: 91,234,659 (GRCm39)	I24T	probably benign	Het
Evc2	C	A	5: 37,496,013 (GRCm39)	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,254,651 (GRCm39)	V283A	probably benign	Het
Flrt3	T	C	2: 140,502,327 (GRCm39)	T434A	probably damaging	Het
Gm572	A	G	4: 148,739,322 (GRCm39)	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hivep3	A	C	4: 119,953,286 (GRCm39)	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,628,919 (GRCm39)	M63T	possibly damaging	Het
Ipo7	A	T	7: 109,647,423 (GRCm39)	T614S	possibly damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Mbd5	T	A	2: 49,162,978 (GRCm39)	N261K	probably damaging	Het
Mcam	T	A	9: 44,045,994 (GRCm39)	L3Q	probably damaging	Het
Mcoln3	C	A	3: 145,846,247 (GRCm39)	T519K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrgprx1	C	A	7: 47,670,941 (GRCm39)	A269S	probably damaging	Het
Mypn	T	C	10: 63,028,487 (GRCm39)	E192G	probably benign	Het
Nup205	C	A	6: 35,168,962 (GRCm39)	P397Q	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,168,937 (GRCm39)	S817P	probably benign	Het
Or6c210	A	T	10: 129,496,400 (GRCm39)	M242L	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,887,125 (GRCm39)	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,365,026 (GRCm39)		probably null	Het
Phip	C	T	9: 82,782,922 (GRCm39)		probably benign	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Sf3a3	A	G	4: 124,618,932 (GRCm39)	T298A	probably benign	Het
Slc25a29	C	T	12: 108,797,097 (GRCm39)		probably benign	Het
Spinkl	T	G	18: 44,307,650 (GRCm39)	T4P	possibly damaging	Het
Stk33	G	A	7: 108,879,002 (GRCm39)	S449L	probably benign	Het
Suz12	T	A	11: 79,892,988 (GRCm39)		probably benign	Het
Timp2	T	A	11: 118,201,497 (GRCm39)	I124F	probably damaging	Het
Tlr1	C	T	5: 65,083,180 (GRCm39)	D466N	probably benign	Het
Tmem200b	A	G	4: 131,649,781 (GRCm39)	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Usp33	C	A	3: 152,074,149 (GRCm39)	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,416 (GRCm39)	E634G	probably damaging	Het

Other mutations in Rhbdl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Rhbdl2	APN	4	123,723,450 (GRCm39)	missense	probably benign
IGL02111:Rhbdl2	APN	4	123,716,630 (GRCm39)	missense	probably damaging	1.00
IGL03381:Rhbdl2	APN	4	123,716,610 (GRCm39)	missense	possibly damaging	0.84
IGL03410:Rhbdl2	APN	4	123,723,463 (GRCm39)	nonsense	probably null
R0039:Rhbdl2	UTSW	4	123,703,822 (GRCm39)	missense	probably benign	0.02
R1292:Rhbdl2	UTSW	4	123,723,435 (GRCm39)	missense	possibly damaging	0.69
R2024:Rhbdl2	UTSW	4	123,720,665 (GRCm39)	missense	probably damaging	1.00
R2120:Rhbdl2	UTSW	4	123,718,712 (GRCm39)	missense	probably damaging	1.00
R4364:Rhbdl2	UTSW	4	123,703,728 (GRCm39)	start codon destroyed	probably null	0.87
R4413:Rhbdl2	UTSW	4	123,703,880 (GRCm39)	missense	probably benign	0.04
R4749:Rhbdl2	UTSW	4	123,720,694 (GRCm39)	critical splice donor site	probably null
R5069:Rhbdl2	UTSW	4	123,711,710 (GRCm39)	nonsense	probably null
R5303:Rhbdl2	UTSW	4	123,704,014 (GRCm39)	intron	probably benign
R5951:Rhbdl2	UTSW	4	123,708,120 (GRCm39)	missense	probably benign	0.00
R7147:Rhbdl2	UTSW	4	123,703,908 (GRCm39)	missense	probably damaging	1.00
R7171:Rhbdl2	UTSW	4	123,708,049 (GRCm39)	missense	possibly damaging	0.95
R7337:Rhbdl2	UTSW	4	123,711,659 (GRCm39)	missense	possibly damaging	0.91
R7374:Rhbdl2	UTSW	4	123,711,658 (GRCm39)	missense	probably benign	0.01
R7411:Rhbdl2	UTSW	4	123,723,435 (GRCm39)	missense	possibly damaging	0.69
R7718:Rhbdl2	UTSW	4	123,718,712 (GRCm39)	missense	probably damaging	1.00
R8152:Rhbdl2	UTSW	4	123,718,711 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AAAACCTGATCCAATTTGGGGC -3'
(R):5'- TTCTTCGGACTGGCTCAGGAAG -3'

Sequencing Primer
(F):5'- ATCCAATTTGGGGCCACTTG -3'
(R):5'- ATCCTGTGGACCTTTCTG -3'

Posted On

2015-07-06