Mutagenetix > Incidental Mutation

Incidental Mutation 'R1456:Khdrbs2'

161751

Institutional Source

Beutler Lab

Gene Symbol

Khdrbs2

Ensembl Gene

ENSMUSG00000026058

Gene Name

KH domain containing, RNA binding, signal transduction associated 2

Synonyms

6330586C16Rik, SLM-1

MMRRC Submission

039511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R1456 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32172714-32658568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32520696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 102 (R102G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226]

AlphaFold

Q9WU01

Predicted Effect

probably benign
Transcript: ENSMUST00000027226

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	156	4.93e-7	SMART
low complexity region	185	197	N/A	INTRINSIC
low complexity region	204	231	N/A	INTRINSIC
Pfam:Sam68-YY	267	321	1.3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050429
AA Change: R102G

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: R102G

Domain	Start	End	E-Value	Type
low complexity region	137	150	N/A	INTRINSIC
Pfam:Peptidase_C48	298	477	1.1e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195252

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: The protein encoded by this gene is similar to the src associated in mitosis, 68 kDa protein, which is an RNA-binding protein and a substrate for Src-family tyrosine kinases during mitosis. This protein has a KH RNA-binding motif and proline-rich motifs which may be SH2 and SH3 domain binding sites. A similar rat protein is an RNA-binding protein which is tyrosine phosphorylated by Src during mitosis. These studies also suggest that the rat protein may function as an adaptor protein for Src by binding the SH2 and SH3 domains of various other proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals display smaller brain size and reduced weight in the cerebellum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,480,920		probably null	Het
4930563D23Rik	T	A	16: 92,320,665	Y245F	probably damaging	Het
4932414N04Rik	A	T	2: 68,716,214	E80V	possibly damaging	Het
Alkbh3	A	G	2: 94,001,419		probably null	Het
Ankar	A	T	1: 72,665,118	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,916,440	I629T	probably benign	Het
Arhgef28	C	T	13: 98,075,002	E158K	probably benign	Het
Asxl2	C	T	12: 3,501,872	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,609,290	I427V	probably benign	Het
Camk4	A	G	18: 33,129,843		probably benign	Het
Ccdc178	A	T	18: 22,150,424	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,753,620		probably benign	Het
Ccz1	A	G	5: 144,011,018		probably benign	Het
Cdh23	T	C	10: 60,487,120	N335S	possibly damaging	Het
Cemip	T	A	7: 83,998,510	S121C	possibly damaging	Het
Cers1	A	G	8: 70,331,188	E262G	probably damaging	Het
Clec11a	G	T	7: 44,306,450	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,691,555	I797T	probably damaging	Het
Col4a1	A	C	8: 11,242,829		probably benign	Het
Colgalt2	G	A	1: 152,484,904	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,208,083	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,351,565		noncoding transcript	Het
Ddx17	T	C	15: 79,530,376	D530G	probably benign	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah3	A	G	7: 120,047,630	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,710,504		probably benign	Het
Egfr	A	G	11: 16,863,065	S182G	probably benign	Het
Fads1	A	G	19: 10,185,752	N131S	probably benign	Het
Fancm	C	T	12: 65,118,351	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,559,591	E168*	probably null	Het
Gm20388	T	C	8: 122,841,948		probably benign	Het
Gm9772	A	T	17: 22,007,118	C62S	probably damaging	Het
H60c	C	T	10: 3,260,307	A81T	possibly damaging	Het
Hira	T	G	16: 18,925,663	S377A	probably benign	Het
Iffo1	T	C	6: 125,145,914	S220P	possibly damaging	Het
Itih4	A	G	14: 30,892,653	M491V	probably benign	Het
Klhdc7a	T	G	4: 139,965,524	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 44,105,499	V73I	probably benign	Het
Krt42	G	A	11: 100,269,609	A88V	probably benign	Het
Krt42	C	T	11: 100,269,610	A88T	probably benign	Het
Limk1	G	T	5: 134,657,510	D580E	probably benign	Het
Lipk	C	T	19: 34,046,785	P323S	probably damaging	Het
Lipo5	T	A	19: 33,465,873		probably benign	Het
Llgl2	A	G	11: 115,845,499	D166G	probably benign	Het
Mapk8ip3	A	T	17: 24,906,949	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,973,145	R32W	probably damaging	Het
Med23	T	A	10: 24,903,652		probably benign	Het
Mrgprb1	A	T	7: 48,448,029	M45K	probably damaging	Het
Mroh7	G	A	4: 106,695,141		probably benign	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Ms4a10	T	A	19: 10,964,733	T175S	possibly damaging	Het
Muc3	T	C	5: 137,137,951	H330R	probably benign	Het
Myo15	A	T	11: 60,508,202	I2787F	probably damaging	Het
Ndst1	A	G	18: 60,713,205	C11R	possibly damaging	Het
Obsl1	C	A	1: 75,487,656	G1669*	probably null	Het
Olfr477	A	G	7: 107,990,398	E11G	probably benign	Het
Olfr784	A	T	10: 129,387,783	D50V	probably damaging	Het
Olfr873	T	C	9: 20,300,838	Y214H	probably benign	Het
Pafah2	T	A	4: 134,404,157	I52N	probably damaging	Het
Pcsk6	A	T	7: 66,043,535	I693F	possibly damaging	Het
Pde4c	G	T	8: 70,746,613	R228L	probably benign	Het
Pdzd8	T	C	19: 59,300,472	N832S	probably benign	Het
Plbd1	T	A	6: 136,613,816	M451L	probably benign	Het
Pramef17	G	T	4: 143,993,281	D171E	probably benign	Het
Prom1	T	C	5: 44,037,623	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,266,310	S813P	probably damaging	Het
Scn10a	T	C	9: 119,691,478	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,415,967	T353A	probably damaging	Het
Shq1	A	T	6: 100,669,698		probably null	Het
Slc22a28	T	A	19: 8,071,858	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,664,907	E9K	probably null	Het
Specc1l	T	C	10: 75,246,284	F505L	probably damaging	Het
Sptan1	G	T	2: 29,980,203		probably null	Het
St6gal2	A	G	17: 55,490,931		probably benign	Het
Taok2	T	C	7: 126,880,141	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,744,244	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,507,106	N361K	probably damaging	Het
Tph1	A	T	7: 46,647,483	Y429*	probably null	Het
Tprkb	A	T	6: 85,924,421	R14W	probably damaging	Het
Trio	A	T	15: 27,753,804		probably benign	Het
Ttc23	T	C	7: 67,667,154		probably benign	Het
Vmn1r211	T	C	13: 22,852,245	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,637,665	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,740,412	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,297,428	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,464,993	V673A	possibly damaging	Het
Zfpm2	A	T	15: 41,102,481	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,220,988	N694D	probably benign	Het

Other mutations in Khdrbs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Khdrbs2	APN	1	32472752	missense	probably benign	0.00
IGL01326:Khdrbs2	APN	1	32657477	missense	possibly damaging	0.94
IGL01767:Khdrbs2	APN	1	32619176	nonsense	probably null
IGL01792:Khdrbs2	APN	1	32657467	missense	probably damaging	0.99
IGL01839:Khdrbs2	APN	1	32414862	splice site	probably benign
R0046:Khdrbs2	UTSW	1	32619202	missense	possibly damaging	0.56
R0079:Khdrbs2	UTSW	1	32519915	splice site	probably null
R0396:Khdrbs2	UTSW	1	32519973	missense	probably damaging	1.00
R0613:Khdrbs2	UTSW	1	32657522	missense	possibly damaging	0.94
R0616:Khdrbs2	UTSW	1	32467775	missense	possibly damaging	0.65
R1034:Khdrbs2	UTSW	1	32467791	missense	probably damaging	1.00
R1055:Khdrbs2	UTSW	1	32644157	splice site	probably benign
R1156:Khdrbs2	UTSW	1	32467875	missense	probably benign	0.04
R2007:Khdrbs2	UTSW	1	32520548	missense	probably benign	0.04
R2079:Khdrbs2	UTSW	1	32467874	missense	probably benign
R2384:Khdrbs2	UTSW	1	32519895	missense	probably damaging	0.97
R3123:Khdrbs2	UTSW	1	32519777	missense	probably damaging	0.98
R3124:Khdrbs2	UTSW	1	32519777	missense	probably damaging	0.98
R3772:Khdrbs2	UTSW	1	32244076	nonsense	probably null
R4078:Khdrbs2	UTSW	1	32519814	intron	probably benign
R4088:Khdrbs2	UTSW	1	32333524	missense	probably damaging	1.00
R4955:Khdrbs2	UTSW	1	32520077	intron	probably benign
R5465:Khdrbs2	UTSW	1	32619174	missense	probably damaging	1.00
R5668:Khdrbs2	UTSW	1	32467770	missense	probably damaging	1.00
R5792:Khdrbs2	UTSW	1	32472692	missense	probably damaging	1.00
R6639:Khdrbs2	UTSW	1	32467862	nonsense	probably null
R7027:Khdrbs2	UTSW	1	32414916	missense	probably benign	0.02
R7380:Khdrbs2	UTSW	1	32333604	missense	unknown
R7381:Khdrbs2	UTSW	1	32333802	missense	not run
R7939:Khdrbs2	UTSW	1	32172975	missense	probably benign	0.27
R8087:Khdrbs2	UTSW	1	32414976	missense	probably benign	0.11
R9347:Khdrbs2	UTSW	1	32472747	missense	probably benign	0.00
X0020:Khdrbs2	UTSW	1	32414974	missense	probably damaging	1.00
Z1088:Khdrbs2	UTSW	1	32244055	intron	probably benign
Z1176:Khdrbs2	UTSW	1	32333662	missense	unknown
Z1177:Khdrbs2	UTSW	1	32243967	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- GTGTTCCAGGCTCCAAGCTATTCC -3'
(R):5'- AAGGCTCAGAAGATGACCCCTCAG -3'

Sequencing Primer
(F):5'- CAACAGTAGATGGTTCTGGATCTC -3'
(R):5'- AGGAGCCTCCAGACCTAGAG -3'

Posted On

2014-03-14