Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Rhbdf2'

547381

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf2

Ensembl Gene

ENSMUSG00000020806

Gene Name

rhomboid 5 homolog 2

Synonyms

cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv

MMRRC Submission

045145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116488991-116517786 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 116494477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103028] [ENSMUST00000103029]

AlphaFold

Q80WQ6

Predicted Effect

probably null
Transcript: ENSMUST00000103028

SMART Domains

Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806

Domain	Start	End	E-Value	Type
Pfam:Rhomboid_SP	98	306	1.8e-98	PFAM
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:Rhomboid	619	763	4.6e-31	PFAM
transmembrane domain	775	797	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000103029

SMART Domains

Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806

Domain	Start	End	E-Value	Type
Pfam:Rhomboid_SP	98	304	4.7e-97	PFAM
transmembrane domain	376	398	N/A	INTRINSIC
Pfam:Rhomboid	619	763	8.1e-31	PFAM
transmembrane domain	775	797	N/A	INTRINSIC

Meta Mutation Damage Score

0.9586

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality. [provided by MGI curators]

Allele List at MGI

All alleles(34) : Targeted(4) Gene trapped(30)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (GRCm39)		probably benign	Het

Other mutations in Rhbdf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rhbdf2	APN	11	116,492,577 (GRCm39)	missense	possibly damaging	0.80
IGL01464:Rhbdf2	APN	11	116,491,734 (GRCm39)	missense	probably benign	0.18
IGL02060:Rhbdf2	APN	11	116,491,452 (GRCm39)	missense	probably damaging	1.00
IGL02211:Rhbdf2	APN	11	116,491,261 (GRCm39)	missense	possibly damaging	0.49
Lostnf	UTSW	11	116,490,987 (GRCm39)	missense	probably damaging	1.00
Lostnf2	UTSW	11	116,491,017 (GRCm39)	missense	possibly damaging	0.94
sinecure	UTSW	11	116,493,086 (GRCm39)	missense	probably damaging	0.99
Trapezoid	UTSW	11	116,491,974 (GRCm39)	missense	probably damaging	0.96
R0131:Rhbdf2	UTSW	11	116,496,170 (GRCm39)	missense	probably damaging	1.00
R0399:Rhbdf2	UTSW	11	116,494,818 (GRCm39)	missense	probably benign	0.00
R0739:Rhbdf2	UTSW	11	116,490,987 (GRCm39)	missense	probably damaging	1.00
R1756:Rhbdf2	UTSW	11	116,498,092 (GRCm39)	missense	probably benign
R1839:Rhbdf2	UTSW	11	116,491,017 (GRCm39)	missense	possibly damaging	0.94
R2029:Rhbdf2	UTSW	11	116,491,974 (GRCm39)	missense	probably damaging	0.96
R3833:Rhbdf2	UTSW	11	116,495,250 (GRCm39)	missense	probably damaging	1.00
R4330:Rhbdf2	UTSW	11	116,492,782 (GRCm39)	missense	probably benign
R4331:Rhbdf2	UTSW	11	116,493,122 (GRCm39)	missense	probably damaging	1.00
R4872:Rhbdf2	UTSW	11	116,492,771 (GRCm39)	missense	probably benign	0.04
R5530:Rhbdf2	UTSW	11	116,491,488 (GRCm39)	missense	probably damaging	1.00
R5625:Rhbdf2	UTSW	11	116,496,203 (GRCm39)	missense	probably damaging	0.99
R5841:Rhbdf2	UTSW	11	116,493,180 (GRCm39)	unclassified	probably benign
R6579:Rhbdf2	UTSW	11	116,495,289 (GRCm39)	missense	probably benign	0.02
R7403:Rhbdf2	UTSW	11	116,491,245 (GRCm39)	missense	probably damaging	1.00
R7743:Rhbdf2	UTSW	11	116,494,775 (GRCm39)	missense	probably benign
R7743:Rhbdf2	UTSW	11	116,492,427 (GRCm39)	missense	probably benign	0.04
R7855:Rhbdf2	UTSW	11	116,493,066 (GRCm39)	nonsense	probably null
R8055:Rhbdf2	UTSW	11	116,498,191 (GRCm39)	missense	probably benign	0.01
R8700:Rhbdf2	UTSW	11	116,498,230 (GRCm39)	start gained	probably benign
R9052:Rhbdf2	UTSW	11	116,494,758 (GRCm39)	missense	probably benign	0.00
X0027:Rhbdf2	UTSW	11	116,489,919 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAAGGTAGCAGTGTCAGCTGG -3'
(R):5'- AGAGCCTCTGTCATCACCAG -3'

Sequencing Primer
(F):5'- TAGCAGTGTCAGCTGGCTCTC -3'
(R):5'- GAGCCTCTGTCATCACCAGAAAAG -3'

Posted On

2019-05-13