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

SLM-1, 6330586C16Rik

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32211795-32697649 bp(+) (GRCm39)

Type of Mutation

splice site (47150 bp from exon)

DNA Base Change (assembly)

A to G at 32558996 bp (GRCm39)

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: 17,057,183 (GRCm39)	T105S	possibly damaging	Het
Abca13	G	A	11: 9,243,493 (GRCm39)	M1785I	probably benign	Het
Adamts3	G	C	5: 89,840,912 (GRCm39)	P804A	probably benign	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Ank2	G	T	3: 126,728,264 (GRCm39)	D776E	probably benign	Het
Cep152	T	A	2: 125,460,373 (GRCm39)	K193M	possibly damaging	Het
Cep55	C	T	19: 38,048,769 (GRCm39)	L142F	probably benign	Het
Chd5	A	G	4: 152,470,206 (GRCm39)	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,471,034 (GRCm39)	L890P	probably damaging	Het
Cul9	C	A	17: 46,848,589 (GRCm39)	E716*	probably null	Het
Cytip	T	A	2: 58,050,006 (GRCm39)	D21V	probably benign	Het
Denr	T	G	5: 124,062,908 (GRCm39)	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,646,618 (GRCm39)	S197C	probably damaging	Het
Egr4	A	T	6: 85,489,751 (GRCm39)	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,192,676 (GRCm39)	Q835*	probably null	Het
Gckr	A	G	5: 31,463,883 (GRCm39)	I268V	probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hpd	T	C	5: 123,319,544 (GRCm39)	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,338,889 (GRCm39)	F16I	probably benign	Het
Ildr2	A	T	1: 166,135,289 (GRCm39)	Y347F	probably damaging	Het
Kcnv1	T	C	15: 44,976,729 (GRCm39)	D186G	probably damaging	Het
L1cam	G	T	X: 72,913,364 (GRCm39)	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768 (GRCm39)	H161R	probably damaging	Het
Mctp2	T	A	7: 71,863,864 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mitf	A	C	6: 97,973,401 (GRCm39)	M220L	probably benign	Het
Mrpl21	T	C	19: 3,334,807 (GRCm39)	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,104,237 (GRCm39)	L968Q	probably damaging	Het
Myo3b	A	G	2: 69,925,502 (GRCm39)	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,330,729 (GRCm39)	T556S	possibly damaging	Het
Nsmf	T	C	2: 24,949,096 (GRCm39)		probably benign	Het
Nsun7	C	T	5: 66,452,856 (GRCm39)	P558S	probably benign	Het
Or10h5	G	A	17: 33,435,079 (GRCm39)	R80C	probably benign	Het
Or1e34	T	G	11: 73,778,563 (GRCm39)	I212L	probably benign	Het
Or56a3	T	C	7: 104,735,135 (GRCm39)	S71P	probably damaging	Het
Or5d40	A	T	2: 88,015,698 (GRCm39)	Y159F	possibly damaging	Het
Phf19	T	C	2: 34,785,966 (GRCm39)	N501S	probably benign	Het
Ranbp17	A	C	11: 33,450,682 (GRCm39)	I85S	probably damaging	Het
Robo1	A	G	16: 72,730,230 (GRCm39)		probably benign	Het
Sntg1	A	G	1: 8,749,286 (GRCm39)		probably benign	Het
Snx15	A	G	19: 6,173,943 (GRCm39)	L58P	probably damaging	Het
Spink5	G	T	18: 44,110,831 (GRCm39)	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,532 (GRCm39)		probably null	Het
Taf1d	C	T	9: 15,221,240 (GRCm39)	A182V	probably benign	Het
Tenm3	A	G	8: 48,796,380 (GRCm39)	V475A	possibly damaging	Het
Tent4b	T	A	8: 88,926,631 (GRCm39)	Y14N	possibly damaging	Het
Tgds	A	T	14: 118,353,647 (GRCm39)	H223Q	possibly damaging	Het
Thoc2	G	T	X: 40,952,985 (GRCm39)	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Trak2	A	T	1: 58,965,883 (GRCm39)	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,041,656 (GRCm39)	Y145H	probably damaging	Het
Vars2	A	T	17: 35,970,048 (GRCm39)	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,735 (GRCm39)	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,408,777 (GRCm39)	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdr64	T	C	1: 175,622,668 (GRCm39)	M805T	probably benign	Het
Xdh	G	A	17: 74,198,213 (GRCm39)	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,466,914 (GRCm39)	Y94*	probably null	Het
Zfp641	T	C	15: 98,186,970 (GRCm39)	N218D	probably benign	Het
Zscan22	T	C	7: 12,638,014 (GRCm39)		probably null	Het

Other mutations in Khdrbs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Khdrbs2	APN	1	32,511,833 (GRCm39)	missense	probably benign	0.00
IGL01326:Khdrbs2	APN	1	32,696,558 (GRCm39)	missense	possibly damaging	0.94
IGL01767:Khdrbs2	APN	1	32,658,257 (GRCm39)	nonsense	probably null
IGL01792:Khdrbs2	APN	1	32,696,548 (GRCm39)	missense	probably damaging	0.99
IGL01839:Khdrbs2	APN	1	32,453,943 (GRCm39)	splice site	probably benign
R0046:Khdrbs2	UTSW	1	32,658,283 (GRCm39)	missense	possibly damaging	0.56
R0396:Khdrbs2	UTSW	1	32,559,054 (GRCm39)	missense	probably damaging	1.00
R0613:Khdrbs2	UTSW	1	32,696,603 (GRCm39)	missense	possibly damaging	0.94
R0616:Khdrbs2	UTSW	1	32,506,856 (GRCm39)	missense	possibly damaging	0.65
R1034:Khdrbs2	UTSW	1	32,506,872 (GRCm39)	missense	probably damaging	1.00
R1055:Khdrbs2	UTSW	1	32,683,238 (GRCm39)	splice site	probably benign
R1156:Khdrbs2	UTSW	1	32,506,956 (GRCm39)	missense	probably benign	0.04
R1456:Khdrbs2	UTSW	1	32,559,777 (GRCm39)	missense	possibly damaging	0.71
R2007:Khdrbs2	UTSW	1	32,559,629 (GRCm39)	missense	probably benign	0.04
R2079:Khdrbs2	UTSW	1	32,506,955 (GRCm39)	missense	probably benign
R2384:Khdrbs2	UTSW	1	32,558,976 (GRCm39)	missense	probably damaging	0.97
R3123:Khdrbs2	UTSW	1	32,558,858 (GRCm39)	missense	probably damaging	0.98
R3124:Khdrbs2	UTSW	1	32,558,858 (GRCm39)	missense	probably damaging	0.98
R3772:Khdrbs2	UTSW	1	32,283,157 (GRCm39)	nonsense	probably null
R4078:Khdrbs2	UTSW	1	32,558,895 (GRCm39)	intron	probably benign
R4088:Khdrbs2	UTSW	1	32,372,605 (GRCm39)	missense	probably damaging	1.00
R4955:Khdrbs2	UTSW	1	32,559,158 (GRCm39)	intron	probably benign
R5465:Khdrbs2	UTSW	1	32,658,255 (GRCm39)	missense	probably damaging	1.00
R5668:Khdrbs2	UTSW	1	32,506,851 (GRCm39)	missense	probably damaging	1.00
R5792:Khdrbs2	UTSW	1	32,511,773 (GRCm39)	missense	probably damaging	1.00
R6639:Khdrbs2	UTSW	1	32,506,943 (GRCm39)	nonsense	probably null
R7027:Khdrbs2	UTSW	1	32,453,997 (GRCm39)	missense	probably benign	0.02
R7380:Khdrbs2	UTSW	1	32,372,685 (GRCm39)	missense	unknown
R7381:Khdrbs2	UTSW	1	32,372,883 (GRCm39)	missense	not run
R7939:Khdrbs2	UTSW	1	32,212,056 (GRCm39)	missense	probably benign	0.27
R8087:Khdrbs2	UTSW	1	32,454,057 (GRCm39)	missense	probably benign	0.11
R9347:Khdrbs2	UTSW	1	32,511,828 (GRCm39)	missense	probably benign	0.00
X0020:Khdrbs2	UTSW	1	32,454,055 (GRCm39)	missense	probably damaging	1.00
Z1088:Khdrbs2	UTSW	1	32,283,136 (GRCm39)	intron	probably benign
Z1176:Khdrbs2	UTSW	1	32,372,743 (GRCm39)	missense	unknown
Z1177:Khdrbs2	UTSW	1	32,283,048 (GRCm39)	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