Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Khdrbs2'

166148

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

038366-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32172714-32658568 bp(+) (GRCm38)

Type of Mutation

splice site (47150 bp from exon)

DNA Base Change (assembly)

A to G at 32519915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027226 (fasta)

Gene Model

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

AlphaFold

Q9WU01

Predicted Effect

probably null
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: I362T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: I362T

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

0.8827

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,007,182	T105S	possibly damaging	Het
Abca13	G	A	11: 9,293,493	M1785I	probably benign	Het
Adamts3	G	C	5: 89,693,053	P804A	probably benign	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Ank2	G	T	3: 126,934,615	D776E	probably benign	Het
Cep152	T	A	2: 125,618,453	K193M	possibly damaging	Het
Cep55	C	T	19: 38,060,321	L142F	probably benign	Het
Chd5	A	G	4: 152,385,749	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,543,304	L890P	probably damaging	Het
Cul9	C	A	17: 46,537,663	E716*	probably null	Het
Cytip	T	A	2: 58,159,994	D21V	probably benign	Het
Denr	T	G	5: 123,924,845	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,920,048	S197C	probably damaging	Het
Egr4	A	T	6: 85,512,769	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,242,676	Q835*	probably null	Het
Gckr	A	G	5: 31,306,539	I268V	probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Hpd	T	C	5: 123,181,481	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,361,905	F16I	probably benign	Het
Ildr2	A	T	1: 166,307,720	Y347F	probably damaging	Het
Kcnv1	T	C	15: 45,113,333	D186G	probably damaging	Het
L1cam	G	T	X: 73,869,758	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768	H161R	probably damaging	Het
Mctp2	T	A	7: 72,214,116		probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mitf	A	C	6: 97,996,440	M220L	probably benign	Het
Mrpl21	T	C	19: 3,284,807	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,213,411	L968Q	probably damaging	Het
Myo3b	A	G	2: 70,095,158	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nlrp2	T	A	7: 5,327,730	T556S	possibly damaging	Het
Nsmf	T	C	2: 25,059,084		probably benign	Het
Nsun7	C	T	5: 66,295,513	P558S	probably benign	Het
Olfr1168	A	T	2: 88,185,354	Y159F	possibly damaging	Het
Olfr1564	G	A	17: 33,216,105	R80C	probably benign	Het
Olfr394	T	G	11: 73,887,737	I212L	probably benign	Het
Olfr679	T	C	7: 105,085,928	S71P	probably damaging	Het
Papd5	T	A	8: 88,200,003	Y14N	possibly damaging	Het
Phf19	T	C	2: 34,895,954	N501S	probably benign	Het
Ranbp17	A	C	11: 33,500,682	I85S	probably damaging	Het
Robo1	A	G	16: 72,933,342		probably benign	Het
Sntg1	A	G	1: 8,679,062		probably benign	Het
Snx15	A	G	19: 6,123,913	L58P	probably damaging	Het
Spink5	G	T	18: 43,977,764	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,533		probably null	Het
Taf1d	C	T	9: 15,309,944	A182V	probably benign	Het
Tenm3	A	G	8: 48,343,345	V475A	possibly damaging	Het
Tgds	A	T	14: 118,116,235	H223Q	possibly damaging	Het
Thoc2	G	T	X: 41,864,108	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,191,145	V290E	probably damaging	Het
Trak2	A	T	1: 58,926,724	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,314,345	Y145H	probably damaging	Het
Vars2	A	T	17: 35,659,156	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,606,310	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,431,792	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Wdr64	T	C	1: 175,795,102	M805T	probably benign	Het
Xdh	G	A	17: 73,891,218	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,624,994	Y94*	probably null	Het
Zfp641	T	C	15: 98,289,089	N218D	probably benign	Het
Zscan22	T	C	7: 12,904,087		probably null	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
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
R1456:Khdrbs2	UTSW	1	32520696	missense	possibly damaging	0.71
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'- TGCAGGATTTCCCAGACCATCCTC -3'
(R):5'- ACCCTGAAGAACAGTCAGTGGCTC -3'

Sequencing Primer
(F):5'- GGTCCCTAGCGATGTAATCTGC -3'
(R):5'- ACAGTCAGTGGCTCAATGATG -3'

Posted On

2014-04-09