Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Rtkn2'

101154

Institutional Source

Beutler Lab

Gene Symbol

Rtkn2

Ensembl Gene

ENSMUSG00000037846

Gene Name

rhotekin 2

Synonyms

Plekhk1, B130039D23Rik, RTKN2, Mbf

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

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

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67979570-68059740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67997620 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 98 (S98P)

Ref Sequence

ENSEMBL: ENSMUSP00000116166 (fasta)

Gene Model

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

AlphaFold

Q14B46

Predicted Effect

probably damaging
Transcript: ENSMUST00000068994
AA Change: S101P

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

SMART Domains

Protein: ENSMUSP00000070717
Gene: ENSMUSG00000037846
AA Change: S101P

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 damaging
Transcript: ENSMUST00000105437
AA Change: S98P

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

SMART Domains

Protein: ENSMUSP00000101077
Gene: ENSMUSG00000037846
AA Change: S98P

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 damaging
Transcript: ENSMUST00000117086
AA Change: S98P

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

SMART Domains

Protein: ENSMUSP00000112419
Gene: ENSMUSG00000037846
AA Change: S98P

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 damaging
Transcript: ENSMUST00000118160
AA Change: S101P

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

SMART Domains

Protein: ENSMUSP00000112946
Gene: ENSMUSG00000037846
AA Change: S101P

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

probably damaging
Transcript: ENSMUST00000147556
AA Change: S98P

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

SMART Domains

Protein: ENSMUSP00000116166
Gene: ENSMUSG00000037846
AA Change: S98P

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,579 (GRCm38)	D315V	probably damaging	Het
Acr	T	C	15: 89,573,974 (GRCm38)	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500 (GRCm38)	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108 (GRCm38)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307 (GRCm38)		probably null	Het
Bfar	A	G	16: 13,698,894 (GRCm38)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,859,304 (GRCm38)	S470C	probably damaging	Het
Cep135	A	G	5: 76,624,637 (GRCm38)	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788 (GRCm38)		probably null	Het
Clptm1	A	T	7: 19,634,211 (GRCm38)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330 (GRCm38)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781 (GRCm38)		probably null	Het
Dst	A	G	1: 34,223,858 (GRCm38)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066 (GRCm38)	T238A	probably benign	Het
Elmo1	T	C	13: 20,185,455 (GRCm38)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,628,679 (GRCm38)	S225P	possibly damaging	Het
Fem1al	C	T	11: 29,823,567 (GRCm38)	R630H	probably damaging	Het
Fes	A	T	7: 80,383,109 (GRCm38)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066 (GRCm38)	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170 (GRCm38)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm4884	A	T	7: 41,043,912 (GRCm38)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380 (GRCm38)		probably benign	Het
Ift140	T	G	17: 25,035,745 (GRCm38)	S131A	probably benign	Het
Ipo4	A	G	14: 55,635,020 (GRCm38)	L88P	probably damaging	Het
Itgal	G	A	7: 127,300,939 (GRCm38)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952 (GRCm38)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337 (GRCm38)	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377 (GRCm38)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345 (GRCm38)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745 (GRCm38)	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194 (GRCm38)	V347A	probably damaging	Het
Or13p5	C	A	4: 118,734,632 (GRCm38)	F34L	possibly damaging	Het
Or6c75	G	A	10: 129,501,150 (GRCm38)	V89I	probably benign	Het
Or8u10	A	G	2: 86,085,291 (GRCm38)	V162A	probably benign	Het
Oxct2b	A	G	4: 123,117,585 (GRCm38)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131 (GRCm38)	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142 (GRCm38)	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245 (GRCm38)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269 (GRCm38)	D190E	probably benign	Het
Prb1c	G	A	6: 132,361,590 (GRCm38)	P222S	unknown	Het
R3hdm4	A	G	10: 79,912,073 (GRCm38)		probably null	Het
Rab1a	C	A	11: 20,223,172 (GRCm38)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502 (GRCm38)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254 (GRCm38)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299 (GRCm38)	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423 (GRCm38)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882 (GRCm38)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907 (GRCm38)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Ryr2	A	G	13: 11,660,113 (GRCm38)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549 (GRCm38)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236 (GRCm38)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574 (GRCm38)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591 (GRCm38)	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387 (GRCm38)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,943,111 (GRCm38)	Q384L	probably damaging	Het
Steap4	A	C	5: 7,976,520 (GRCm38)	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231 (GRCm38)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019 (GRCm38)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684 (GRCm38)	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796 (GRCm38)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086 (GRCm38)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520 (GRCm38)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901 (GRCm38)	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226 (GRCm38)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043 (GRCm38)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746 (GRCm38)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176 (GRCm38)	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931 (GRCm38)	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779 (GRCm38)	L783*	probably null	Het
Zer1	C	T	2: 30,108,246 (GRCm38)	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437 (GRCm38)	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979 (GRCm38)	H425Y	probably damaging	Het

Other mutations in Rtkn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Rtkn2	APN	10	68,041,664 (GRCm38)	missense	probably benign	0.00
IGL01338:Rtkn2	APN	10	68,025,519 (GRCm38)	missense	possibly damaging	0.83
IGL01865:Rtkn2	APN	10	68,035,875 (GRCm38)	missense	probably benign	0.44
IGL03074:Rtkn2	APN	10	68,041,721 (GRCm38)	missense	probably damaging	0.99
IGL03383:Rtkn2	APN	10	68,017,837 (GRCm38)	missense	probably damaging	1.00
PIT4520001:Rtkn2	UTSW	10	67,987,461 (GRCm38)	missense	probably damaging	1.00
R2166:Rtkn2	UTSW	10	68,041,696 (GRCm38)	missense	possibly damaging	0.55
R2323:Rtkn2	UTSW	10	68,001,934 (GRCm38)	missense	probably damaging	1.00
R3826:Rtkn2	UTSW	10	67,997,626 (GRCm38)	splice site	probably null
R3827:Rtkn2	UTSW	10	67,997,626 (GRCm38)	splice site	probably null
R3828:Rtkn2	UTSW	10	67,997,626 (GRCm38)	splice site	probably null
R3829:Rtkn2	UTSW	10	67,997,626 (GRCm38)	splice site	probably null
R4742:Rtkn2	UTSW	10	68,003,314 (GRCm38)	missense	possibly damaging	0.72
R4867:Rtkn2	UTSW	10	68,001,927 (GRCm38)	missense	probably damaging	0.99
R4871:Rtkn2	UTSW	10	68,005,633 (GRCm38)	missense	probably damaging	1.00
R4936:Rtkn2	UTSW	10	68,041,915 (GRCm38)	makesense	probably null
R5009:Rtkn2	UTSW	10	68,041,409 (GRCm38)	missense	probably benign	0.14
R5709:Rtkn2	UTSW	10	68,001,970 (GRCm38)	missense	probably benign	0.31
R6295:Rtkn2	UTSW	10	67,979,699 (GRCm38)	start gained	probably benign
R6307:Rtkn2	UTSW	10	68,035,832 (GRCm38)	missense	possibly damaging	0.60
R6751:Rtkn2	UTSW	10	68,041,453 (GRCm38)	missense	probably benign	0.43
R6823:Rtkn2	UTSW	10	68,026,632 (GRCm38)	missense	probably damaging	0.96
R7011:Rtkn2	UTSW	10	67,979,665 (GRCm38)	unclassified	probably benign
R7369:Rtkn2	UTSW	10	68,041,429 (GRCm38)	missense	probably damaging	0.96
R7403:Rtkn2	UTSW	10	68,005,636 (GRCm38)	missense	probably benign	0.18
R7760:Rtkn2	UTSW	10	68,005,609 (GRCm38)	missense	probably damaging	1.00
R7803:Rtkn2	UTSW	10	67,979,813 (GRCm38)	critical splice donor site	probably null
R7992:Rtkn2	UTSW	10	68,040,093 (GRCm38)	missense	probably damaging	1.00
R9034:Rtkn2	UTSW	10	68,005,586 (GRCm38)	missense	probably damaging	1.00
R9301:Rtkn2	UTSW	10	68,035,847 (GRCm38)	missense	possibly damaging	0.85
R9383:Rtkn2	UTSW	10	68,003,264 (GRCm38)	missense	possibly damaging	0.94
Z1177:Rtkn2	UTSW	10	68,025,603 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15