Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Rit2'

689396

Institutional Source

Beutler Lab

Gene Symbol

Rit2

Ensembl Gene

ENSMUSG00000057455

Gene Name

Ras-like without CAAX 2

Synonyms

Roc2, Rin

MMRRC Submission

068892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31107367-31450181 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31108468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 172 (D172E)

Ref Sequence

ENSEMBL: ENSMUSP00000114323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082070] [ENSMUST00000153060]

AlphaFold

P70425

Predicted Effect

probably benign
Transcript: ENSMUST00000082070

SMART Domains

Protein: ENSMUSP00000080724
Gene: ENSMUSG00000057455

Domain	Start	End	E-Value	Type
Pfam:Ras	22	65	3.9e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153060
AA Change: D172E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114323
Gene: ENSMUSG00000057455
AA Change: D172E

Domain	Start	End	E-Value	Type
RAS	18	184	1.77e-111	SMART
low complexity region	203	212	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,828 (GRCm39)	I770V	probably benign	Het
Abtb3	C	A	10: 85,223,762 (GRCm39)	N190K	unknown	Het
Actr10	T	C	12: 70,989,073 (GRCm39)	L64S	probably damaging	Het
Adam22	T	C	5: 8,177,343 (GRCm39)	T589A	probably benign	Het
Akr1b7	T	C	6: 34,395,977 (GRCm39)	S160P	probably damaging	Het
Ankrd52	C	T	10: 128,217,850 (GRCm39)	H277Y	probably damaging	Het
Cc2d1b	T	A	4: 108,482,062 (GRCm39)	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,773,750 (GRCm39)		probably benign	Het
Clec3a	A	G	8: 115,152,375 (GRCm39)	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,551,962 (GRCm39)	L324P	probably damaging	Het
Cspp1	T	C	1: 10,147,469 (GRCm39)		probably null	Het
Cwf19l1	C	T	19: 44,124,274 (GRCm39)		probably benign	Het
Cyp26b1	G	A	6: 84,551,379 (GRCm39)	T470I	probably damaging	Het
Dedd2	A	G	7: 24,917,092 (GRCm39)	V110A	probably benign	Het
Dnah8	A	G	17: 30,975,729 (GRCm39)	I2866M	possibly damaging	Het
Dpp10	T	C	1: 123,360,667 (GRCm39)	Y286C	probably damaging	Het
Efna2	C	T	10: 80,024,524 (GRCm39)	P177L	probably damaging	Het
Fbxo46	A	G	7: 18,869,325 (GRCm39)		probably benign	Het
Gdpd5	A	T	7: 99,108,048 (GRCm39)	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928 (GRCm39)	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,221,687 (GRCm39)	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,385,658 (GRCm39)	E157*	probably null	Het
Grk4	T	C	5: 34,905,653 (GRCm39)	I466T		Het
Hic1	A	G	11: 75,060,332 (GRCm39)	M5T	unknown	Het
Hmcn2	C	A	2: 31,303,685 (GRCm39)	N3058K	probably benign	Het
Htr5a	T	A	5: 28,055,799 (GRCm39)	H263Q	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Map3k8	A	T	18: 4,340,557 (GRCm39)	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,612,289 (GRCm39)	M233K	probably benign	Het
Napsa	A	T	7: 44,235,223 (GRCm39)	D336V	probably damaging	Het
Neurod1	T	A	2: 79,285,218 (GRCm39)	N55I	possibly damaging	Het
Or10d5	A	T	9: 39,862,087 (GRCm39)		probably benign	Het
Or4c115	A	T	2: 88,927,369 (GRCm39)	C301S	probably benign	Het
Or5an9	T	C	19: 12,187,703 (GRCm39)	F258L	probably damaging	Het
Or8b12	T	A	9: 37,657,963 (GRCm39)	C178S	probably damaging	Het
Pcdha8	G	T	18: 37,127,323 (GRCm39)	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pigr	G	A	1: 130,774,231 (GRCm39)	V404M	probably damaging	Het
Plch1	G	A	3: 63,612,036 (GRCm39)	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,159,396 (GRCm39)	F583L	probably benign	Het
Skint4	C	T	4: 112,022,932 (GRCm39)	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,320,171 (GRCm39)	V353A	probably benign	Het
Slit3	A	G	11: 35,574,917 (GRCm39)	D1077G	probably damaging	Het
Sun2	A	G	15: 79,612,252 (GRCm39)	F478L	probably benign	Het
Syt6	C	A	3: 103,494,825 (GRCm39)	C263*	probably null	Het
Tfpi	C	A	2: 84,273,235 (GRCm39)	L229F	unknown	Het
Tmem131l	A	T	3: 83,817,775 (GRCm39)	C1242S	probably benign	Het
Ttc3	T	A	16: 94,204,219 (GRCm39)	W280R	probably damaging	Het
Uncx	A	G	5: 139,532,573 (GRCm39)	K213E	possibly damaging	Het
Usp24	T	C	4: 106,232,875 (GRCm39)	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,593,404 (GRCm39)	I151F	probably damaging	Het
Vmn2r50	G	T	7: 9,772,061 (GRCm39)	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,625,792 (GRCm39)		probably benign	Het
Wdfy3	A	T	5: 102,000,451 (GRCm39)	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,358,289 (GRCm39)	M655V	probably benign	Het
Zc3h3	C	T	15: 75,711,499 (GRCm39)	A321T	probably benign	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp541	A	G	7: 15,812,376 (GRCm39)	E343G	probably damaging	Het
Zfp775	C	A	6: 48,597,151 (GRCm39)	R342S	probably damaging	Het
Zwilch	A	G	9: 64,075,942 (GRCm39)	F27L	probably benign	Het

Other mutations in Rit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
crackers	UTSW	18	31,449,892 (GRCm39)	critical splice donor site	probably null
R0456:Rit2	UTSW	18	31,108,504 (GRCm39)	missense	probably benign	0.00
R0764:Rit2	UTSW	18	31,286,754 (GRCm39)	splice site	probably benign
R1765:Rit2	UTSW	18	31,449,951 (GRCm39)	missense	probably damaging	0.99
R2142:Rit2	UTSW	18	31,286,766 (GRCm39)	missense	probably benign	0.00
R4829:Rit2	UTSW	18	31,345,726 (GRCm39)	missense	probably damaging	1.00
R5137:Rit2	UTSW	18	31,286,817 (GRCm39)	missense	probably benign
R5350:Rit2	UTSW	18	31,449,905 (GRCm39)	missense	probably damaging	1.00
R5812:Rit2	UTSW	18	31,108,514 (GRCm39)	missense	probably damaging	1.00
R7283:Rit2	UTSW	18	31,449,892 (GRCm39)	critical splice donor site	probably null
R7290:Rit2	UTSW	18	31,376,221 (GRCm39)	missense	possibly damaging	0.88
R8219:Rit2	UTSW	18	31,108,547 (GRCm39)	missense	probably damaging	0.97
R8309:Rit2	UTSW	18	31,286,898 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTCTAATTTCTGCCTGCAGG -3'
(R):5'- CTCATCTGTTCTTCAAGTGCAG -3'

Sequencing Primer
(F):5'- GGAGATATGAACAATTGTCTGGTTG -3'
(R):5'- CATCTGTTCTTCAAGTGCAGAATTTC -3'

Posted On

2021-11-19