Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:Rtkn2'

530785

Institutional Source

Beutler Lab

Gene Symbol

Rtkn2

Ensembl Gene

ENSMUSG00000037846

Gene Name

rhotekin 2

Synonyms

Mbf, RTKN2, Plekhk1, B130039D23Rik

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67815371-67894259 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67877283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 448 (F448I)

Ref Sequence

ENSEMBL: ENSMUSP00000116166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068994] [ENSMUST00000105437] [ENSMUST00000117086] [ENSMUST00000118160] [ENSMUST00000147556]

AlphaFold

Q14B46

Predicted Effect

probably benign
Transcript: ENSMUST00000068994
AA Change: F451I

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
AA Change: F451I

Domain	Start	End	E-Value	Type
Blast:Hr1	12	75	4e-30	BLAST
Pfam:Anillin	93	243	4.9e-37	PFAM
PH	282	389	1.11e-6	SMART
low complexity region	529	543	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105437
AA Change: F449I

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
AA Change: F449I

Domain	Start	End	E-Value	Type
Blast:Hr1	12	75	4e-30	BLAST
Pfam:Anillin	90	241	3.1e-37	PFAM
PH	280	387	1.11e-6	SMART
low complexity region	527	541	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117086
AA Change: F448I

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
AA Change: F448I

Domain	Start	End	E-Value	Type
Blast:Hr1	12	75	4e-30	BLAST
Pfam:Anillin	90	240	4.9e-37	PFAM
PH	279	386	1.11e-6	SMART
low complexity region	526	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118160
AA Change: F451I

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
AA Change: F451I

Domain	Start	End	E-Value	Type
Blast:Hr1	12	75	4e-30	BLAST
Pfam:Anillin	94	242	1.4e-49	PFAM
PH	282	389	1.11e-6	SMART
low complexity region	529	543	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123147

Predicted Effect

probably benign
Transcript: ENSMUST00000147556
AA Change: F448I

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
AA Change: F448I

Domain	Start	End	E-Value	Type
Blast:Hr1	12	75	4e-30	BLAST
Pfam:Anillin	90	240	4.9e-37	PFAM
PH	279	386	1.11e-6	SMART
low complexity region	526	540	N/A	INTRINSIC

Meta Mutation Damage Score

0.1012

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,771,971 (GRCm39)	N387Y	probably damaging	Het
Abhd17a	T	C	10: 80,422,421 (GRCm39)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm39)		probably null	Het
Adcy6	T	C	15: 98,494,086 (GRCm39)	N817S	probably benign	Het
Ak8	T	A	2: 28,599,957 (GRCm39)	L63*	probably null	Het
Arhgef28	G	A	13: 98,211,755 (GRCm39)	S76L	probably damaging	Het
Asap1	A	G	15: 63,966,261 (GRCm39)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,768,379 (GRCm39)	M209I	probably benign	Het
Casr	T	C	16: 36,335,950 (GRCm39)	I120V	probably benign	Het
Ccnq	T	C	11: 78,641,950 (GRCm39)	Y180C	probably damaging	Het
Chd7	T	C	4: 8,833,866 (GRCm39)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,668,883 (GRCm39)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,348,391 (GRCm39)	H362L	probably damaging	Het
Dnaaf4	A	G	9: 72,869,257 (GRCm39)	T156A	probably benign	Het
Dym	G	A	18: 75,419,718 (GRCm39)	V630M	probably damaging	Het
Dync2i1	A	T	12: 116,177,076 (GRCm39)	V842E	possibly damaging	Het
Dyrk1b	C	A	7: 27,886,134 (GRCm39)	P619Q	probably damaging	Het
Eml5	T	C	12: 98,831,659 (GRCm39)	D433G	probably damaging	Het
Frem2	A	T	3: 53,561,086 (GRCm39)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,068,082 (GRCm39)	R255G	probably damaging	Het
Galnt17	T	A	5: 131,110,428 (GRCm39)	I304F	probably damaging	Het
Gpc5	A	G	14: 115,607,363 (GRCm39)	S322G	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,610,269 (GRCm39)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,745,987 (GRCm39)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,253,913 (GRCm39)		probably null	Het
Il17f	A	G	1: 20,849,713 (GRCm39)	M17T	probably benign	Het
Itga11	G	A	9: 62,675,866 (GRCm39)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,321,042 (GRCm39)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,342,243 (GRCm39)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,118,055 (GRCm39)	V131A	possibly damaging	Het
Or51r1	G	A	7: 102,227,706 (GRCm39)	M1I	probably null	Het
Or8b40	T	G	9: 38,027,271 (GRCm39)	Y60D	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Or8g55	T	C	9: 39,784,976 (GRCm39)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,110,874 (GRCm39)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,778 (GRCm39)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,459,868 (GRCm39)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,342,555 (GRCm39)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 98,976,574 (GRCm39)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,552,952 (GRCm39)	I117F	probably benign	Het
Psapl1	C	A	5: 36,362,303 (GRCm39)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Scn10a	T	C	9: 119,500,617 (GRCm39)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,117,759 (GRCm39)	L193P	probably damaging	Het
Sox12	T	C	2: 152,238,678 (GRCm39)	Y314C	probably damaging	Het
Spata31h1	A	G	10: 82,119,331 (GRCm39)	S4560P	probably benign	Het
Sptbn1	T	C	11: 30,067,859 (GRCm39)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,099,775 (GRCm39)	V1570A	probably benign	Het
Synrg	T	C	11: 83,872,251 (GRCm39)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,494,919 (GRCm39)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,173,507 (GRCm39)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,312,428 (GRCm39)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,489,306 (GRCm39)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,428,719 (GRCm39)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,269,095 (GRCm39)		probably null	Het
Vnn3	C	T	10: 23,745,523 (GRCm39)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm39)	Y911C	probably damaging	Het
Zfp772	C	T	7: 7,206,716 (GRCm39)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,887,556 (GRCm39)	H957L	probably benign	Het
Zscan20	G	T	4: 128,479,668 (GRCm39)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,227,373 (GRCm39)	F346I	probably damaging	Het

Other mutations in Rtkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rtkn2	APN	10	67,877,494 (GRCm39)	missense	probably benign	0.00
IGL01338:Rtkn2	APN	10	67,861,349 (GRCm39)	missense	possibly damaging	0.83
IGL01865:Rtkn2	APN	10	67,871,705 (GRCm39)	missense	probably benign	0.44
IGL03074:Rtkn2	APN	10	67,877,551 (GRCm39)	missense	probably damaging	0.99
IGL03383:Rtkn2	APN	10	67,853,667 (GRCm39)	missense	probably damaging	1.00
PIT4520001:Rtkn2	UTSW	10	67,823,291 (GRCm39)	missense	probably damaging	1.00
R1167:Rtkn2	UTSW	10	67,833,450 (GRCm39)	missense	probably damaging	1.00
R2166:Rtkn2	UTSW	10	67,877,526 (GRCm39)	missense	possibly damaging	0.55
R2323:Rtkn2	UTSW	10	67,837,764 (GRCm39)	missense	probably damaging	1.00
R3826:Rtkn2	UTSW	10	67,833,456 (GRCm39)	splice site	probably null
R3827:Rtkn2	UTSW	10	67,833,456 (GRCm39)	splice site	probably null
R3828:Rtkn2	UTSW	10	67,833,456 (GRCm39)	splice site	probably null
R3829:Rtkn2	UTSW	10	67,833,456 (GRCm39)	splice site	probably null
R4742:Rtkn2	UTSW	10	67,839,144 (GRCm39)	missense	possibly damaging	0.72
R4867:Rtkn2	UTSW	10	67,837,757 (GRCm39)	missense	probably damaging	0.99
R4871:Rtkn2	UTSW	10	67,841,463 (GRCm39)	missense	probably damaging	1.00
R4936:Rtkn2	UTSW	10	67,877,745 (GRCm39)	makesense	probably null
R5009:Rtkn2	UTSW	10	67,877,239 (GRCm39)	missense	probably benign	0.14
R5709:Rtkn2	UTSW	10	67,837,800 (GRCm39)	missense	probably benign	0.31
R6295:Rtkn2	UTSW	10	67,815,529 (GRCm39)	start gained	probably benign
R6307:Rtkn2	UTSW	10	67,871,662 (GRCm39)	missense	possibly damaging	0.60
R6823:Rtkn2	UTSW	10	67,862,462 (GRCm39)	missense	probably damaging	0.96
R7011:Rtkn2	UTSW	10	67,815,495 (GRCm39)	unclassified	probably benign
R7369:Rtkn2	UTSW	10	67,877,259 (GRCm39)	missense	probably damaging	0.96
R7403:Rtkn2	UTSW	10	67,841,466 (GRCm39)	missense	probably benign	0.18
R7760:Rtkn2	UTSW	10	67,841,439 (GRCm39)	missense	probably damaging	1.00
R7803:Rtkn2	UTSW	10	67,815,643 (GRCm39)	critical splice donor site	probably null
R7992:Rtkn2	UTSW	10	67,875,923 (GRCm39)	missense	probably damaging	1.00
R9034:Rtkn2	UTSW	10	67,841,416 (GRCm39)	missense	probably damaging	1.00
R9301:Rtkn2	UTSW	10	67,871,677 (GRCm39)	missense	possibly damaging	0.85
R9383:Rtkn2	UTSW	10	67,839,094 (GRCm39)	missense	possibly damaging	0.94
Z1177:Rtkn2	UTSW	10	67,861,433 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTACGCATCCTGTTCCCAG -3'
(R):5'- CTGTCCTTGGACTGATTCGC -3'

Sequencing Primer
(F):5'- CCCAGGTTTTTAATGGTCATTATAGG -3'
(R):5'- CTCTACCCTGGGTTTTTATGCAGAAG -3'

Posted On

2018-08-01