Mutagenetix > Incidental Mutation

Incidental Mutation 'R7403:Rhbdf2'

574355

Institutional Source

Beutler Lab

Gene Symbol

Rhbdf2

Ensembl Gene

ENSMUSG00000020806

Gene Name

rhomboid 5 homolog 2

Synonyms

cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv

MMRRC Submission

045485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116488991-116517786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 116491245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 630 (L630R)

Ref Sequence

ENSEMBL: ENSMUSP00000099317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]

AlphaFold

Q80WQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000021160

SMART Domains

Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804

Domain	Start	End	E-Value	Type
PDB:1KUY\|A	3	104	1e-50	PDB
SCOP:d1cjwa_	28	103	4e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103028
AA Change: L630R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: L630R

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: L630R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: L630R

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

probably benign
Transcript: ENSMUST00000123507

SMART Domains

Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804

Domain	Start	End	E-Value	Type
PDB:1IB1\|H	3	53	6e-16	PDB
SCOP:d1cjwa_	28	59	1e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153476

SMART Domains

Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_1	82	172	4.1e-14	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	G	A	10: 83,450,059 (GRCm39)	A271V	probably benign	Het
Brpf3	C	T	17: 29,040,330 (GRCm39)	T917I	probably benign	Het
Camta1	G	A	4: 151,537,752 (GRCm39)	Q143*	probably null	Het
Cd3e	C	A	9: 44,913,590 (GRCm39)	E48D	probably benign	Het
Clca3b	A	G	3: 144,529,259 (GRCm39)	L805P	probably benign	Het
Crispld1	A	G	1: 17,817,820 (GRCm39)	Y241C	probably damaging	Het
Ddx43	T	G	9: 78,321,133 (GRCm39)	N380K	probably damaging	Het
Dtl	A	T	1: 191,295,285 (GRCm39)	V155E	probably damaging	Het
Eif1ad19	G	T	12: 87,740,314 (GRCm39)	Q82K	probably benign	Het
Elp1	A	T	4: 56,778,994 (GRCm39)	C608S	probably damaging	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Fam78a	T	C	2: 31,959,627 (GRCm39)	N161S	probably damaging	Het
Far2	T	C	6: 148,060,475 (GRCm39)	I276T	possibly damaging	Het
Frem3	T	C	8: 81,342,774 (GRCm39)	L1689P	probably damaging	Het
Gak	T	C	5: 108,761,401 (GRCm39)	K210R	probably benign	Het
Gna14	G	T	19: 16,576,445 (GRCm39)	D151Y		Het
Hdhd2	A	G	18: 77,042,736 (GRCm39)	D55G	probably benign	Het
Hycc2	A	T	1: 58,587,861 (GRCm39)	D117E	possibly damaging	Het
Ifna5	A	G	4: 88,754,110 (GRCm39)	N117D	probably benign	Het
Il16	T	A	7: 83,319,343 (GRCm39)	T383S	probably damaging	Het
Il36rn	T	C	2: 24,171,214 (GRCm39)	F101L	probably damaging	Het
Ino80d	A	G	1: 63,101,378 (GRCm39)	V416A	possibly damaging	Het
Ints6	T	C	14: 62,945,104 (GRCm39)	R409G	possibly damaging	Het
Itgb5	G	T	16: 33,723,163 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,953,399 (GRCm39)	L905*	probably null	Het
Kcnq3	T	A	15: 65,874,066 (GRCm39)	R561W	probably damaging	Het
Lipo4	C	T	19: 33,480,679 (GRCm39)	E230K	possibly damaging	Het
Lrrc7	A	T	3: 157,854,311 (GRCm39)	L1299*	probably null	Het
Mcm3ap	T	C	10: 76,318,657 (GRCm39)		probably null	Het
Mok	A	T	12: 110,781,563 (GRCm39)		probably null	Het
Mylk2	T	A	2: 152,759,261 (GRCm39)	V344E	probably damaging	Het
Oacyl	T	C	18: 65,870,966 (GRCm39)	V389A	probably benign	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or1j8	T	C	2: 36,192,342 (GRCm39)	F264L	probably benign	Het
Or8s5	T	C	15: 98,238,000 (GRCm39)	Y290C	probably damaging	Het
Padi3	T	C	4: 140,527,430 (GRCm39)	N124D	probably benign	Het
Parp3	T	C	9: 106,352,052 (GRCm39)	S107G	probably benign	Het
Pcdhb18	G	A	18: 37,624,950 (GRCm39)	G760D	probably benign	Het
Plekhh1	G	A	12: 79,087,351 (GRCm39)	W13*	probably null	Het
Poglut3	T	A	9: 53,301,741 (GRCm39)	V131E	probably damaging	Het
Pou2f1	C	T	1: 165,738,955 (GRCm39)	A166T	unknown	Het
Ppp1r10	C	T	17: 36,240,326 (GRCm39)	P539S	probably benign	Het
Prdm11	T	C	2: 92,817,036 (GRCm39)	T310A	probably benign	Het
Rbm25	A	G	12: 83,722,908 (GRCm39)	Y777C	probably damaging	Het
Relt	A	T	7: 100,500,655 (GRCm39)	C72S	probably damaging	Het
Rhag	T	A	17: 41,145,549 (GRCm39)	I334N	probably damaging	Het
Rnps1	T	C	17: 24,644,061 (GRCm39)	S274P	unknown	Het
Rtkn2	A	G	10: 67,841,466 (GRCm39)	I205V	probably benign	Het
Ryr1	A	T	7: 28,713,292 (GRCm39)	V4690E	probably benign	Het
Secisbp2l	T	C	2: 125,602,199 (GRCm39)	Y387C	possibly damaging	Het
Sema3d	A	T	5: 12,547,551 (GRCm39)	I158F	probably damaging	Het
Slc17a1	A	G	13: 24,058,690 (GRCm39)	N48S	probably benign	Het
Slc2a1	G	A	4: 118,989,752 (GRCm39)	G130S	probably damaging	Het
Slc6a3	T	C	13: 73,710,546 (GRCm39)		probably null	Het
Snx27	A	T	3: 94,436,233 (GRCm39)	S261T	probably damaging	Het
Spag17	A	T	3: 99,846,691 (GRCm39)	I72F	possibly damaging	Het
Spink6	T	G	18: 44,204,564 (GRCm39)	L10R	unknown	Het
Swt1	G	A	1: 151,264,444 (GRCm39)	T690I	probably benign	Het
Syne2	G	A	12: 75,962,020 (GRCm39)	E729K	not run	Het
Synj2	C	T	17: 6,088,005 (GRCm39)	T1352M	possibly damaging	Het
Taar4	G	A	10: 23,836,957 (GRCm39)	G189D	probably damaging	Het
Thsd4	T	C	9: 59,964,170 (GRCm39)	N441D	probably damaging	Het
Tm9sf2	A	G	14: 122,378,640 (GRCm39)	D248G	probably benign	Het
Tmem69	A	T	4: 116,410,664 (GRCm39)	L102Q	probably damaging	Het
Tshr	A	G	12: 91,464,548 (GRCm39)	Y98C	probably damaging	Het
Tspan1	A	G	4: 116,020,219 (GRCm39)	V230A	probably benign	Het
Upk3a	T	C	15: 84,903,709 (GRCm39)	V136A	possibly damaging	Het
Ush2a	T	A	1: 188,365,924 (GRCm39)	N2259K	probably damaging	Het
Usp24	A	G	4: 106,264,232 (GRCm39)	D1721G	possibly damaging	Het
Vldlr	T	A	19: 27,213,674 (GRCm39)	C120*	probably null	Het
Vmn2r23	A	T	6: 123,681,538 (GRCm39)	I149L	probably benign	Het
Vps8	A	T	16: 21,253,722 (GRCm39)	E21V	possibly damaging	Het
Wdr35	A	G	12: 9,062,685 (GRCm39)	I635V	probably damaging	Het
Zfp955a	T	C	17: 33,462,720 (GRCm39)	D58G	probably benign	Het
Zkscan5	A	G	5: 145,155,403 (GRCm39)	Q358R	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
R7047:Rhbdf2	UTSW	11	116,494,477 (GRCm39)	critical splice donor site	probably null
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'- AGCACCATCAGCCTTTCCTG -3'
(R):5'- TATTTCCATGAAGACGCGACG -3'

Sequencing Primer
(F):5'- TGTGTGCCCATGGTCACC -3'
(R):5'- ACGCTGTGTTCCCAGGTAG -3'

Posted On

2019-09-13