Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Rhbdl2'

220245

Institutional Source

Beutler Lab

Gene Symbol

Rhbdl2

Ensembl Gene

ENSMUSG00000043333

Gene Name

rhomboid like 2

Synonyms

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123681667-123723697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123720665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 234 (R234S)

Ref Sequence

ENSEMBL: ENSMUSP00000101810 (fasta)

Gene Model

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

AlphaFold

A2AGA4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053202
AA Change: R234S

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

SMART Domains

Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: R234S

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 damaging
Transcript: ENSMUST00000106204
AA Change: R234S

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

SMART Domains

Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: R234S

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,259,680 (GRCm39)	D280G	probably damaging	Het
Atosa	A	G	9: 74,917,672 (GRCm39)	D757G	probably damaging	Het
Azi2	C	T	9: 117,878,390 (GRCm39)	R77*	probably null	Het
Chd8	T	C	14: 52,468,950 (GRCm39)	D556G	probably benign	Het
Cit	T	C	5: 116,085,983 (GRCm39)	M849T	probably damaging	Het
Cit	T	C	5: 116,143,899 (GRCm39)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,639,185 (GRCm39)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,814,193 (GRCm39)	H606Q	unknown	Het
Dnajc2	A	C	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,914,457 (GRCm39)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm39)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,088,257 (GRCm39)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,592 (GRCm39)	D45G	probably benign	Het
Fchsd2	A	C	7: 100,847,740 (GRCm39)	D210A	possibly damaging	Het
Flg	T	A	3: 93,186,722 (GRCm39)	M58K	probably damaging	Het
Gabra5	G	A	7: 57,138,698 (GRCm39)	R117C	probably damaging	Het
Gm6741	G	A	17: 91,544,309 (GRCm39)	S24N	probably benign	Het
Grin2a	T	C	16: 9,462,107 (GRCm39)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,419,981 (GRCm39)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,560,317 (GRCm39)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,206,530 (GRCm39)	S371P	probably damaging	Het
Idua	C	T	5: 108,828,600 (GRCm39)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,623,072 (GRCm39)	C125*	probably null	Het
Krt14	C	T	11: 100,098,044 (GRCm39)	G80R	unknown	Het
Lama5	T	C	2: 179,820,923 (GRCm39)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,713,809 (GRCm39)	C125Y	unknown	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Meioc	C	T	11: 102,566,184 (GRCm39)	A600V	probably benign	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm39)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 72,944,346 (GRCm39)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,428,266 (GRCm39)	I38T	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,495,168 (GRCm39)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,456,279 (GRCm39)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,746,272 (GRCm39)	V1906A	probably benign	Het
Pom121	T	C	5: 135,410,404 (GRCm39)		probably benign	Het
Psmd9	T	C	5: 123,379,925 (GRCm39)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rai1	T	C	11: 60,076,415 (GRCm39)	F160L	probably damaging	Het
Rnase2a	T	A	14: 51,493,245 (GRCm39)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,378,201 (GRCm39)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,393,857 (GRCm39)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,255,703 (GRCm39)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,747,728 (GRCm39)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,872,507 (GRCm39)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,677,923 (GRCm39)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tectb	T	C	19: 55,170,361 (GRCm39)	F71L	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnc	A	G	4: 63,882,858 (GRCm39)	V1921A	probably damaging	Het
Ubn1	T	G	16: 4,882,487 (GRCm39)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,647,357 (GRCm39)	S579P	probably damaging	Het
Xdh	A	G	17: 74,228,300 (GRCm39)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,263,974 (GRCm39)	Y324S	possibly 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
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
R4366: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'- GCTCTTATGAGAACTAATGAATCGATG -3'
(R):5'- GAGTTGTAATCTCTATTTGATATCCCC -3'

Sequencing Primer
(F):5'- CTAATGAATCGATGGAGGGAAAACTC -3'
(R):5'- GTCTCAGCAGGTAAAAGTTCTTGCC -3'

Posted On

2014-08-25