Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Khdrbs2'

58277

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

038805-MU

Accession Numbers

Essential gene?

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

Stock #

R0616 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

32172714-32658568 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32467775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 167 (I167V)

Ref Sequence

ENSEMBL: ENSMUSP00000027226 (fasta)

Gene Model

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

AlphaFold

Q9WU01

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027226
AA Change: I167V

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: I167V

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	G	T	14: 49,773,656	T198K	possibly damaging	Het
Abca12	G	T	1: 71,302,671	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,654,070	T723S	probably damaging	Het
Ackr3	G	A	1: 90,214,469	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Arap1	A	G	7: 101,401,650	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,116,717		probably null	Het
Arhgap5	C	T	12: 52,517,065	T273I	possibly damaging	Het
BC017158	A	T	7: 128,272,631		probably null	Het
C1s2	T	C	6: 124,628,764	E332G	probably damaging	Het
Camp	G	A	9: 109,848,639	R88W	probably benign	Het
Cdkl2	A	G	5: 92,009,004	M564T	probably benign	Het
Ceacam20	A	G	7: 19,970,396	H124R	probably benign	Het
Cep19	C	T	16: 32,104,011	R32C	probably damaging	Het
Cep295	G	A	9: 15,332,322	Q1565*	probably null	Het
Chd3	T	C	11: 69,345,487	E1932G	probably damaging	Het
Cnr2	G	T	4: 135,917,562	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,580,549	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,727,305	N200I	probably benign	Het
Dock4	T	C	12: 40,704,415	S468P	probably benign	Het
Dscc1	C	A	15: 55,083,570	C253F	probably benign	Het
Fam126a	T	C	5: 23,986,772	T44A	probably damaging	Het
Fam217a	C	A	13: 34,913,683	S55I	probably benign	Het
Fam92a	G	A	4: 12,168,234	R210*	probably null	Het
Farp1	G	A	14: 121,277,022	R921H	probably damaging	Het
Fat4	A	G	3: 38,942,870	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,502,505	F100L	probably damaging	Het
Gli3	C	A	13: 15,662,406	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,270,937	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,116,432	E159G	probably benign	Het
Grm4	A	T	17: 27,434,564	I757N	probably damaging	Het
Hagh	A	G	17: 24,857,577	Y94C	probably damaging	Het
Itpkb	T	C	1: 180,421,736	I892T	probably damaging	Het
Kcmf1	T	C	6: 72,850,484	I58V	probably benign	Het
Kmt2c	A	G	5: 25,299,252	I275T	probably benign	Het
Lingo4	A	G	3: 94,403,081	K442R	probably benign	Het
Mak	T	C	13: 41,042,185	N382D	probably benign	Het
Maob	G	A	X: 16,710,163	T480I	possibly damaging	Het
Mcoln1	A	G	8: 3,515,025	E573G	probably benign	Het
Ms4a6b	G	A	19: 11,526,898		probably null	Het
Muc5ac	A	G	7: 141,796,244	M576V	probably benign	Het
Nme8	T	A	13: 19,690,859	D126V	probably benign	Het
Npy2r	T	A	3: 82,541,363	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,362,857	D193G	probably damaging	Het
Olfr1257	T	A	2: 89,881,591	V255E	probably benign	Het
Olfr130	A	C	17: 38,067,240	E23A	probably damaging	Het
Olfr1391	T	C	11: 49,327,756	L115P	probably damaging	Het
Olfr1537	G	A	9: 39,237,650	T258M	probably benign	Het
Olfr214	A	G	6: 116,556,928	I168V	probably benign	Het
Olfr548-ps1	T	A	7: 102,542,554	M206K	possibly damaging	Het
Olfr895	G	T	9: 38,269,334	V266L	probably benign	Het
Olfr918	A	T	9: 38,673,480	M1K	probably null	Het
Olfr984	A	T	9: 40,100,987	F168I	probably damaging	Het
Pabpc2	A	T	18: 39,773,739	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,401,975	K341*	probably null	Het
Pde4dip	T	C	3: 97,747,533	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,706,422		probably null	Het
Pigg	C	T	5: 108,314,085	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,100,831	F1353L	probably damaging	Het
Prg4	T	C	1: 150,460,711	D87G	probably damaging	Het
Prkdc	A	T	16: 15,690,407	D974V	probably damaging	Het
Prmt3	A	G	7: 49,787,328	Y217C	probably damaging	Het
Proser1	A	G	3: 53,474,697	T192A	probably damaging	Het
Rab3d	G	A	9: 21,914,764	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,244,262	K386R	possibly damaging	Het
Rcn2	A	G	9: 56,056,250	D221G	probably benign	Het
Rhbdl3	T	G	11: 80,331,861	H245Q	probably damaging	Het
Ribc1	T	C	X: 152,005,791	E204G	probably damaging	Het
Rpap1	G	A	2: 119,778,120	L254F	probably damaging	Het
Rrp12	A	G	19: 41,892,549	F148L	possibly damaging	Het
Setdb1	A	T	3: 95,341,798	I333K	probably damaging	Het
Simc1	A	G	13: 54,547,032	I1210V	probably benign	Het
Smchd1	T	A	17: 71,379,574	D1379V	probably benign	Het
Snap29	A	T	16: 17,422,506	K159*	probably null	Het
Spdye4c	A	T	2: 128,594,212	K176M	possibly damaging	Het
Stk31	T	A	6: 49,423,485	W415R	probably damaging	Het
Supt6	C	T	11: 78,209,495	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,276,156	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,846,623		probably null	Het
Ttn	A	G	2: 76,897,667		probably benign	Het
Ucp3	A	T	7: 100,480,161	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,089,477	N316D	probably benign	Het
Usp4	T	G	9: 108,366,804	S247A	probably benign	Het
Utp20	A	T	10: 88,770,751	V1653D	probably benign	Het
Vmn1r183	A	G	7: 24,054,825	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,314,623	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,610,999	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,521,129	R758P	probably damaging	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
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'- TGGAAGCATCCCTTTCCACCTCAG -3'
(R):5'- GAGACCTGTGGTCATCATCTGCTG -3'

Sequencing Primer
(F):5'- tgaaatgcctgtgacagattttgag -3'
(R):5'- GCTGTCATCATCTGCTGTTAATACG -3'

Posted On

2013-07-11