Mutagenetix > Incidental Mutation

Incidental Mutation 'R5167:Rac3'

397359

Institutional Source

Beutler Lab

Gene Symbol

Rac3

Ensembl Gene

ENSMUSG00000018012

Gene Name

Rac family small GTPase 3

Synonyms

Rac1B

MMRRC Submission

042747-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.296) question?

Stock #

R5167 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120612296-120614795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120613421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 58 (D58G)

Ref Sequence

ENSEMBL: ENSMUSP00000119523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026139] [ENSMUST00000026144] [ENSMUST00000106148] [ENSMUST00000142229] [ENSMUST00000145781]

AlphaFold

P60764

Predicted Effect

probably null
Transcript: ENSMUST00000018156
AA Change: D65G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012
AA Change: D65G

Domain	Start	End	E-Value	Type
RHO	6	179	8.8e-139	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000026139

SMART Domains

Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	4e-11	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	645	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026144

SMART Domains

Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	195	8.9e-51	PFAM
Pfam:KR	9	175	7.1e-9	PFAM
Pfam:Epimerase	10	227	2.3e-7	PFAM
Pfam:adh_short_C2	14	242	6.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106148

SMART Domains

Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450

Domain	Start	End	E-Value	Type
Pfam:adh_short	8	151	2.1e-22	PFAM
Pfam:KR	9	151	4.7e-7	PFAM
Pfam:NAD_binding_10	11	182	3.9e-9	PFAM
Pfam:adh_short_C2	14	150	2.2e-8	PFAM
Pfam:adh_short_C2	157	234	4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134322

Predicted Effect

probably null
Transcript: ENSMUST00000142229
AA Change: D58G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012
AA Change: D58G

Domain	Start	End	E-Value	Type
RHO	6	172	3.19e-127	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155187

Predicted Effect

probably benign
Transcript: ENSMUST00000145781

SMART Domains

Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145

Domain	Start	End	E-Value	Type
LRR	57	84	9.11e0	SMART
LRR	85	112	1.01e-1	SMART
Blast:LRR	113	142	1e-10	BLAST
LRR	143	170	4.47e-3	SMART
LRR	171	198	2.2e-2	SMART
LRR	199	226	1.66e2	SMART
coiled coil region	360	399	N/A	INTRINSIC

Meta Mutation Damage Score

0.8646

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (38/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null mice display decreased stride length and impaired thermal nociception, but have improved motor learning and retention of motor behaviors and normal brain morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Bcan	G	T	3: 87,901,514 (GRCm39)	S396Y	probably damaging	Het
Calm3	T	C	7: 16,651,626 (GRCm39)	D21G	probably damaging	Het
Cldn23	C	T	8: 36,293,474 (GRCm39)	V5M	possibly damaging	Het
D630003M21Rik	A	G	2: 158,047,665 (GRCm39)	S735P	probably damaging	Het
Dscaml1	T	C	9: 45,628,730 (GRCm39)	Y1095H	probably damaging	Het
Esr2	T	C	12: 76,170,048 (GRCm39)	T427A	probably benign	Het
Fbxo28	T	C	1: 182,145,558 (GRCm39)	I177V	possibly damaging	Het
Fubp1	T	C	3: 151,926,989 (GRCm39)	L372P	possibly damaging	Het
Glis1	G	A	4: 107,491,891 (GRCm39)	G585E	probably damaging	Het
Gm7258	T	C	7: 128,197,791 (GRCm39)		noncoding transcript	Het
Hecw1	C	T	13: 14,460,242 (GRCm39)	R613Q	probably damaging	Het
Kif13b	T	C	14: 65,010,384 (GRCm39)	S1228P	probably damaging	Het
Knl1	A	G	2: 118,900,512 (GRCm39)	I738V	probably damaging	Het
Lig1	T	A	7: 13,044,983 (GRCm39)	V892D	probably damaging	Het
Lvrn	T	A	18: 47,013,814 (GRCm39)	Y499N	probably damaging	Het
Ly9	C	A	1: 171,432,773 (GRCm39)	W80L	probably damaging	Het
Lypd5	T	C	7: 24,051,889 (GRCm39)	V68A	possibly damaging	Het
Ngdn	C	T	14: 55,259,656 (GRCm39)	Q236*	probably null	Het
Nudt7	C	A	8: 114,878,567 (GRCm39)	C154*	probably null	Het
Obi1	A	G	14: 104,716,223 (GRCm39)	S717P	probably damaging	Het
Or14j10	C	A	17: 37,934,642 (GRCm39)	E295*	probably null	Het
Or4f14b	A	T	2: 111,775,447 (GRCm39)	M118K	probably damaging	Het
Or5b117	T	A	19: 13,431,741 (GRCm39)	I47F	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pcnt	G	T	10: 76,256,258 (GRCm39)	Q661K	probably damaging	Het
Plekha1	G	A	7: 130,487,179 (GRCm39)		probably null	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Rgl2	C	T	17: 34,154,948 (GRCm39)	R203*	probably null	Het
Ryr1	T	C	7: 28,767,118 (GRCm39)	D2948G	probably damaging	Het
Serpina12	A	T	12: 104,004,179 (GRCm39)	L151Q	probably damaging	Het
Sf3a1	T	C	11: 4,127,456 (GRCm39)	V594A	possibly damaging	Het
Spdl1	G	T	11: 34,704,187 (GRCm39)	H549N	possibly damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Zfp352	A	G	4: 90,112,453 (GRCm39)	T198A	possibly damaging	Het

Other mutations in Rac3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03288:Rac3	APN	11	120,614,092 (GRCm39)	missense	possibly damaging	0.46
R0462:Rac3	UTSW	11	120,613,684 (GRCm39)	missense	probably damaging	0.98
R1852:Rac3	UTSW	11	120,614,320 (GRCm39)	missense	possibly damaging	0.89
R1909:Rac3	UTSW	11	120,614,163 (GRCm39)	missense	probably benign	0.00
R7117:Rac3	UTSW	11	120,614,343 (GRCm39)	nonsense	probably null
R8064:Rac3	UTSW	11	120,614,401 (GRCm39)	missense	probably benign	0.00
R8903:Rac3	UTSW	11	120,614,071 (GRCm39)	missense	probably damaging	0.99
R9700:Rac3	UTSW	11	120,613,399 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTCAAGTGACCCTGGTTCTG -3'
(R):5'- AGACATCCTTCAGAGGGAGG -3'

Sequencing Primer
(F):5'- CCCTGGTTCTGGGTTTCCG -3'
(R):5'- CAGAAGTGACCAAAGGATGTCC -3'

Posted On

2016-07-06