Mutagenetix > Incidental Mutation

Incidental Mutation 'R5625:Rhbdf2'

441814

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf2

Ensembl Gene

ENSMUSG00000020806

Gene Name

rhomboid 5 homolog 2

Synonyms

cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv

MMRRC Submission

043164-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5625 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

116488991-116517786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116496203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 111 (R111C)

Ref Sequence

ENSEMBL: ENSMUSP00000099318 (fasta)

Gene Model

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

AlphaFold

Q80WQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103028
AA Change: R111C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: R111C

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 damaging
Transcript: ENSMUST00000103029
AA Change: R111C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: R111C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138125

Meta Mutation Damage Score

0.3061

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (61/61)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	G	9: 44,189,333 (GRCm39)	D388A	probably benign	Het
Ampd3	A	C	7: 110,401,730 (GRCm39)	E408A	probably damaging	Het
Bmp1	G	T	14: 70,723,606 (GRCm39)	N743K	probably benign	Het
Brsk1	A	G	7: 4,709,399 (GRCm39)	K398E	probably damaging	Het
Ccdc157	A	T	11: 4,101,888 (GRCm39)	M11K	probably damaging	Het
Cep295	A	C	9: 15,252,187 (GRCm39)	M394R	probably damaging	Het
Cfap44	G	T	16: 44,280,710 (GRCm39)		probably null	Het
Col13a1	C	T	10: 61,679,388 (GRCm39)	G713R	unknown	Het
Cxcr2	A	T	1: 74,197,991 (GRCm39)	K162*	probably null	Het
Cyp3a44	C	T	5: 145,716,376 (GRCm39)	D405N	possibly damaging	Het
Exo1	G	T	1: 175,721,380 (GRCm39)	D340Y	possibly damaging	Het
Farp2	T	G	1: 93,456,470 (GRCm39)	L51R	probably damaging	Het
Fat4	A	T	3: 38,943,083 (GRCm39)	I659F	possibly damaging	Het
Gbp2b	T	A	3: 142,304,806 (GRCm39)	W81R	probably damaging	Het
Gipc2	C	T	3: 151,871,541 (GRCm39)		probably benign	Het
Gm10941	G	T	10: 77,094,670 (GRCm39)		probably benign	Het
Gm1988	A	T	7: 38,823,229 (GRCm39)		noncoding transcript	Het
Hapln3	G	T	7: 78,767,006 (GRCm39)		probably null	Het
Ifi213	A	G	1: 173,396,629 (GRCm39)	S482P	possibly damaging	Het
Insc	A	G	7: 114,428,302 (GRCm39)	T92A	probably damaging	Het
Lrrn1	T	A	6: 107,544,315 (GRCm39)	C38S	probably damaging	Het
Mycbpap	T	C	11: 94,396,519 (GRCm39)	E107G	probably damaging	Het
Neb	A	T	2: 52,067,547 (GRCm39)	L5848*	probably null	Het
Nrg3	A	T	14: 38,092,950 (GRCm39)	M545K	probably damaging	Het
Nudt3	A	G	17: 27,802,202 (GRCm39)	L28P	probably damaging	Het
Or8g35	T	A	9: 39,381,099 (GRCm39)	M308L	probably benign	Het
Otop1	A	T	5: 38,460,104 (GRCm39)	Y557F	probably damaging	Het
Pcare	T	A	17: 72,058,321 (GRCm39)	D452V	probably damaging	Het
Pdgfra	G	A	5: 75,349,998 (GRCm39)		probably null	Het
Pi4kb	A	G	3: 94,891,988 (GRCm39)	M223V	probably benign	Het
Piezo1	T	C	8: 123,209,699 (GRCm39)	T2335A	probably benign	Het
Ppp6c	A	G	2: 39,087,453 (GRCm39)	V251A	probably benign	Het
Prkg1	C	T	19: 31,742,162 (GRCm39)	E21K	possibly damaging	Het
Ptpru	T	C	4: 131,530,691 (GRCm39)	E521G	probably null	Het
Rasl10b	G	T	11: 83,309,640 (GRCm39)	R199L	probably damaging	Het
Sec23ip	G	T	7: 128,346,707 (GRCm39)		probably benign	Het
Sptbn5	A	T	2: 119,910,273 (GRCm39)		noncoding transcript	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,141,886 (GRCm39)	S6141P	probably benign	Het
Szt2	A	G	4: 118,230,414 (GRCm39)	V2653A	unknown	Het
Tex46	T	C	4: 136,337,925 (GRCm39)	F39S	probably damaging	Het
Tmem50a	AACCA	AA	4: 134,625,778 (GRCm39)		probably benign	Het
Tmem62	G	T	2: 120,820,874 (GRCm39)	W180L	probably damaging	Het
Tnxb	G	A	17: 34,904,185 (GRCm39)	A1232T	probably benign	Het
Tubgcp3	T	C	8: 12,674,888 (GRCm39)	H744R	possibly damaging	Het
Uggt2	A	G	14: 119,315,136 (GRCm39)	I311T	probably damaging	Het
Usp8	C	T	2: 126,584,197 (GRCm39)	R469C	probably damaging	Het
Vmn1r19	T	C	6: 57,382,281 (GRCm39)	L278S	probably damaging	Het
Vmn2r129	A	T	4: 156,686,505 (GRCm39)		noncoding transcript	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	Het
Wdr93	A	G	7: 79,420,766 (GRCm39)	T376A	probably benign	Het
Zfp575	G	A	7: 24,285,077 (GRCm39)	A188V	possibly damaging	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
R5841:Rhbdf2	UTSW	11	116,493,180 (GRCm39)	unclassified	probably benign
R6579:Rhbdf2	UTSW	11	116,495,289 (GRCm39)	missense	probably benign	0.02
R7047:Rhbdf2	UTSW	11	116,494,477 (GRCm39)	critical splice donor site	probably null
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'- ACAATGTTGCCCAGACCCTG -3'
(R):5'- CTCGTGTACCCGCAACTCAC -3'

Sequencing Primer
(F):5'- AGACCCTGGGAGAGCCG -3'
(R):5'- GTGTACCCGCAACTCACACATC -3'

Posted On

2016-11-08