Mutagenetix > Incidental Mutation

Incidental Mutation 'R7743:Rhbdf2'

596686

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf2

Ensembl Gene

ENSMUSG00000020806

Gene Name

rhomboid 5 homolog 2

Synonyms

cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv

MMRRC Submission

045799-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7743 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116488991-116517786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116494775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 300 (D300E)

Ref Sequence

ENSEMBL: ENSMUSP00000099317 (fasta)

Gene Model

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

AlphaFold

Q80WQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000103028
AA Change: D300E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: D300E

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 benign
Transcript: ENSMUST00000103029
AA Change: D300E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: D300E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,516 (GRCm39)	E1235G	probably damaging	Het
Abtb3	A	T	10: 85,460,813 (GRCm39)	I569F	possibly damaging	Het
Adam6a	A	G	12: 113,508,152 (GRCm39)	D175G	probably benign	Het
Adgrf4	A	T	17: 42,983,453 (GRCm39)	C76*	probably null	Het
Agbl3	C	T	6: 34,823,765 (GRCm39)	T815I	probably damaging	Het
Ahnak2	A	G	12: 112,748,383 (GRCm39)	V488A	not run	Het
Akip1	T	A	7: 109,311,035 (GRCm39)	S192T	probably benign	Het
Apc2	G	A	10: 80,140,749 (GRCm39)	M201I	probably damaging	Het
Arel1	G	T	12: 84,987,043 (GRCm39)	N124K	probably damaging	Het
Atp10a	A	T	7: 58,453,457 (GRCm39)	H845L	probably damaging	Het
Atp2a2	A	G	5: 122,599,634 (GRCm39)	Y586H	probably benign	Het
BC051019	A	G	7: 109,315,266 (GRCm39)	Y330H	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Chek2	T	G	5: 110,987,916 (GRCm39)		probably null	Het
Cldn14	A	G	16: 93,716,615 (GRCm39)	L77S	probably damaging	Het
Cox15	T	C	19: 43,728,380 (GRCm39)	K298E	possibly damaging	Het
Cpt1b	G	T	15: 89,305,607 (GRCm39)	D369E	probably benign	Het
Cpxm1	T	C	2: 130,235,342 (GRCm39)	N550S	probably benign	Het
Csdc2	A	G	15: 81,833,399 (GRCm39)	E132G	possibly damaging	Het
Cyb5d2	A	T	11: 72,669,702 (GRCm39)	C219S	probably damaging	Het
Erbb4	T	C	1: 68,367,278 (GRCm39)	T480A	probably benign	Het
Fndc1	G	A	17: 7,983,969 (GRCm39)	T1319I	unknown	Het
Gm5773	T	G	3: 93,680,565 (GRCm39)	V79G	probably damaging	Het
Hsf2	G	A	10: 57,387,431 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,238,608 (GRCm39)	T64A	probably damaging	Het
Kifc5b	T	C	17: 27,143,176 (GRCm39)	V316A	probably damaging	Het
Ktn1	A	G	14: 47,907,750 (GRCm39)	D279G	probably damaging	Het
Lonrf1	T	C	8: 36,716,206 (GRCm39)	E143G	possibly damaging	Het
Mroh9	C	T	1: 162,852,122 (GRCm39)	E856K	probably benign	Het
Muc16	T	C	9: 18,568,773 (GRCm39)	T1249A	unknown	Het
Myh6	G	A	14: 55,194,607 (GRCm39)	R721W	probably damaging	Het
Myo6	A	T	9: 80,183,611 (GRCm39)	I669F	unknown	Het
N4bp2	A	G	5: 65,965,802 (GRCm39)	T1284A	probably damaging	Het
Npr3	A	G	15: 11,905,724 (GRCm39)	M1T	probably null	Het
Obscn	C	T	11: 58,990,603 (GRCm39)	V1657M	probably damaging	Het
Olfr908	A	G	9: 38,427,624 (GRCm39)	T99A	possibly damaging	Het
Or52a20	A	G	7: 103,366,560 (GRCm39)	E253G	possibly damaging	Het
Or52p2	A	T	7: 102,237,638 (GRCm39)	F104Y	probably benign	Het
Otud6b	C	A	4: 14,818,389 (GRCm39)	A171S	possibly damaging	Het
Pdcd2l	A	C	7: 33,892,256 (GRCm39)	D204E	probably benign	Het
Pdia2	T	C	17: 26,417,842 (GRCm39)	S56G	probably benign	Het
Plcxd1	G	A	5: 110,250,369 (GRCm39)	E237K	possibly damaging	Het
Plekha5	A	T	6: 140,501,712 (GRCm39)	R633S	probably damaging	Het
Pnpla6	T	C	8: 3,586,594 (GRCm39)	F937L	possibly damaging	Het
Pth2	A	T	7: 44,830,733 (GRCm39)	M6L	probably benign	Het
Ptprd	T	A	4: 76,004,326 (GRCm39)	K143I	probably damaging	Het
Rock2	G	A	12: 17,026,048 (GRCm39)	V1265I	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtn4	T	A	11: 29,683,790 (GRCm39)	Y1027*	probably null	Het
Rxfp3	A	G	15: 11,037,216 (GRCm39)	L52P	probably damaging	Het
Sel1l3	A	G	5: 53,293,227 (GRCm39)	Y830H	probably benign	Het
Serpinb3d	C	T	1: 107,007,088 (GRCm39)	V207I	probably damaging	Het
Sipa1l2	T	C	8: 126,190,972 (GRCm39)	E1006G	probably damaging	Het
Slc22a19	C	T	19: 7,661,201 (GRCm39)	M324I	possibly damaging	Het
Slc37a1	T	A	17: 31,535,159 (GRCm39)	F106I	probably damaging	Het
Snx14	A	T	9: 88,280,402 (GRCm39)	S518T	probably benign	Het
Sp2	T	C	11: 96,851,935 (GRCm39)	T330A	probably damaging	Het
Spata13	A	T	14: 60,993,698 (GRCm39)	H1050L	probably damaging	Het
Sptssa	A	C	12: 54,703,201 (GRCm39)	V23G	possibly damaging	Het
Syt3	A	T	7: 44,042,091 (GRCm39)	I317F	probably damaging	Het
Tars1	A	C	15: 11,399,458 (GRCm39)		probably null	Het
Tead3	T	A	17: 28,551,801 (GRCm39)	T431S	probably benign	Het
Tiam2	G	A	17: 3,568,431 (GRCm39)	E1526K	possibly damaging	Het
Tnni3	G	A	7: 4,524,891 (GRCm39)	P12L	probably benign	Het
Topaz1	A	G	9: 122,614,201 (GRCm39)	H1207R	probably benign	Het
Trdn	G	T	10: 33,133,058 (GRCm39)	E107*	probably null	Het
Trp63	A	G	16: 25,701,375 (GRCm39)	N483S	probably benign	Het
Trpm4	A	G	7: 44,957,762 (GRCm39)	S1009P	probably benign	Het
Trpm6	T	C	19: 18,804,772 (GRCm39)	V908A	probably benign	Het
Tsen34	A	T	7: 3,697,601 (GRCm39)	M25L	possibly damaging	Het
Ttn	T	C	2: 76,781,827 (GRCm39)	E1073G	unknown	Het
Uaca	A	T	9: 60,783,677 (GRCm39)	I1380F	probably damaging	Het
Ubr3	A	G	2: 69,774,793 (GRCm39)	T539A	probably benign	Het
Ugt1a5	T	A	1: 88,094,117 (GRCm39)	M115K	probably benign	Het
Unc45b	A	T	11: 82,813,726 (GRCm39)	I378F	probably damaging	Het
Unk	G	A	11: 115,940,262 (GRCm39)	R205Q	possibly damaging	Het
Ush2a	T	A	1: 188,542,376 (GRCm39)	L3314Q	probably benign	Het
Vezt	A	G	10: 93,816,286 (GRCm39)	L475P	probably damaging	Het
Vmn2r115	C	T	17: 23,564,772 (GRCm39)	Q220*	probably null	Het
Yap1	T	C	9: 7,962,379 (GRCm39)	Q223R	probably benign	Het
Zdhhc7	G	A	8: 120,813,467 (GRCm39)	T114M	possibly damaging	Het
Zwilch	A	C	9: 64,060,217 (GRCm39)	C374G	probably 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
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
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	116,492,427 (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'- TTCCGGTCAAATGCAAAGTG -3'
(R):5'- CCCTTCCATCCTGAAGAGACTG -3'

Sequencing Primer
(F):5'- CCGGTCAAATGCAAAGTGCTTTAC -3'
(R):5'- CCTGAAGAGACTGTATAGCTTTGCC -3'

Posted On

2019-11-26