Mutagenetix > Incidental Mutation

Incidental Mutation 'R7380:Khdrbs2'

572601

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

045462-MU

Accession Numbers

Essential gene?

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

Stock #

R7380 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32211795-32697649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32372685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 120 (S120P)

Ref Sequence

ENSEMBL: ENSMUSP00000140157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226] [ENSMUST00000188257]

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

unknown
Transcript: ENSMUST00000188257
AA Change: S120P

SMART Domains

Protein: ENSMUSP00000140157
Gene: ENSMUSG00000026058
AA Change: S120P

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	122	4.04e-3	SMART
low complexity region	180	191	N/A	INTRINSIC

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 117,700,376 (GRCm39)	T9A	probably benign	Het
Abcc5	A	T	16: 20,215,784 (GRCm39)	S414R	possibly damaging	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Ankib1	G	T	5: 3,772,576 (GRCm39)	Q487K	probably benign	Het
BC034090	T	G	1: 155,108,229 (GRCm39)	S11R	probably damaging	Het
Car12	A	G	9: 66,654,945 (GRCm39)	N125S	probably benign	Het
Casq1	A	G	1: 172,044,416 (GRCm39)	V137A	probably benign	Het
Cfap54	C	A	10: 92,883,840 (GRCm39)	V305F	probably damaging	Het
Clstn3	T	C	6: 124,433,948 (GRCm39)	E404G	probably benign	Het
Copg1	T	G	6: 87,870,824 (GRCm39)	L209R	probably damaging	Het
Cpb2	A	T	14: 75,493,449 (GRCm39)	Q42L	possibly damaging	Het
Cpd	G	A	11: 76,693,151 (GRCm39)	Q712*	probably null	Het
Csmd3	T	A	15: 47,450,361 (GRCm39)	Y2690F		Het
Dchs1	G	T	7: 105,407,835 (GRCm39)	T1999K	probably benign	Het
Ddx10	T	A	9: 53,151,786 (GRCm39)	T80S	probably damaging	Het
Dmtn	G	A	14: 70,854,768 (GRCm39)	T69I	probably damaging	Het
Dnah5	T	A	15: 28,370,524 (GRCm39)	H2821Q	probably damaging	Het
Fam162b	T	A	10: 51,466,572 (GRCm39)		probably benign	Het
Fam193b	A	C	13: 55,690,612 (GRCm39)	S717A	probably benign	Het
Far2	T	C	6: 148,082,493 (GRCm39)	F500L	unknown	Het
Focad	T	A	4: 88,192,435 (GRCm39)	V588D	unknown	Het
Gm12728	T	C	4: 105,651,593 (GRCm39)	F68L	probably damaging	Het
Gm1527	T	A	3: 28,974,621 (GRCm39)	M478K	probably benign	Het
Gm57858	T	A	3: 36,080,070 (GRCm39)	D229V	possibly damaging	Het
Gpd2	A	T	2: 57,230,171 (GRCm39)	I308F	probably damaging	Het
Igf2bp3	T	C	6: 49,085,933 (GRCm39)	T249A	probably benign	Het
Igfn1	C	A	1: 135,889,746 (GRCm39)	V2434F	probably damaging	Het
Inhca	G	A	9: 103,156,680 (GRCm39)	Q127*	probably null	Het
Kdm5a	C	A	6: 120,382,879 (GRCm39)	Q737K	probably benign	Het
Lmx1a	T	C	1: 167,519,609 (GRCm39)	F46L	probably damaging	Het
Lrba	C	G	3: 86,232,381 (GRCm39)	T776R	probably damaging	Het
Lrrc8c	A	G	5: 105,755,701 (GRCm39)	N492S	possibly damaging	Het
Mapk3	A	T	7: 126,363,967 (GRCm39)	I365F		Het
Mcee	A	G	7: 64,061,657 (GRCm39)	I153M	possibly damaging	Het
Mllt3	T	C	4: 87,710,180 (GRCm39)	D415G	possibly damaging	Het
Muc4	A	T	16: 32,575,740 (GRCm39)	T1747S	unknown	Het
Myh14	A	T	7: 44,310,466 (GRCm39)	V139E	probably damaging	Het
Myo10	A	T	15: 25,779,706 (GRCm39)	I772L	probably benign	Het
Naa15	T	G	3: 51,367,268 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,283,969 (GRCm39)	I841N	probably damaging	Het
Nf1	C	T	11: 79,437,102 (GRCm39)	T2006I	probably damaging	Het
Npr2	T	A	4: 43,641,254 (GRCm39)	W427R	probably damaging	Het
Nr1h3	A	T	2: 91,020,540 (GRCm39)	F324L	possibly damaging	Het
Obscn	T	C	11: 58,947,740 (GRCm39)	K4430E		Het
Or1e1d-ps1	T	A	11: 73,819,013 (GRCm39)	Y61N	possibly damaging	Het
Or5ac21	A	G	16: 59,124,391 (GRCm39)	R292G	probably damaging	Het
Or6c2	A	T	10: 129,362,530 (GRCm39)	T145S	probably benign	Het
Or6d13	T	C	6: 116,517,894 (GRCm39)	L160P	probably benign	Het
Osgin1	T	A	8: 120,172,170 (GRCm39)	H321Q	probably benign	Het
P4ha1	A	G	10: 59,186,273 (GRCm39)	I251V	probably benign	Het
Padi2	G	A	4: 140,644,997 (GRCm39)	W77*	probably null	Het
Pkd1	T	A	17: 24,800,616 (GRCm39)	I3086N	probably damaging	Het
Plk3	T	C	4: 116,988,350 (GRCm39)	N360S	probably benign	Het
Prr14	A	T	7: 127,075,614 (GRCm39)	S541C	probably null	Het
Ptch2	C	A	4: 116,971,843 (GRCm39)	Q1122K	possibly damaging	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rad50	T	C	11: 53,586,223 (GRCm39)	I258V	probably benign	Het
Rapgef3	G	T	15: 97,664,672 (GRCm39)	R64S	probably benign	Het
Rbm44	A	G	1: 91,079,938 (GRCm39)	N42S	possibly damaging	Het
Ring1	T	C	17: 34,240,694 (GRCm39)	Y361C	probably damaging	Het
Robo3	T	C	9: 37,329,852 (GRCm39)	T1155A	probably damaging	Het
Rsf1	GGCGG	GGCGGTGGCCGCGG	7: 97,229,122 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,470,502 (GRCm39)	T4682A	probably damaging	Het
Scart1	A	T	7: 139,804,790 (GRCm39)	N598Y	possibly damaging	Het
Sema7a	T	C	9: 57,868,847 (GRCm39)	V653A	unknown	Het
Slc16a13	T	C	11: 70,110,105 (GRCm39)	Y132C	probably damaging	Het
Slc24a1	A	G	9: 64,855,815 (GRCm39)	V364A	unknown	Het
Slc8a2	C	T	7: 15,868,278 (GRCm39)	A170V	probably damaging	Het
Slfn8	C	T	11: 82,894,566 (GRCm39)	R691Q	not run	Het
Snx2	T	C	18: 53,327,640 (GRCm39)	V122A	probably benign	Het
Sstr1	A	T	12: 58,260,066 (GRCm39)	M230L	probably benign	Het
Themis2	C	T	4: 132,513,528 (GRCm39)	V233I	possibly damaging	Het
Tmem106b	T	C	6: 13,078,167 (GRCm39)	S121P	probably damaging	Het
Tmem63c	A	G	12: 87,124,722 (GRCm39)	I529V	probably benign	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Trmt10c	A	T	16: 55,854,619 (GRCm39)	W339R	probably damaging	Het
Ugt2b1	A	T	5: 87,065,578 (GRCm39)	F487Y	not run	Het
Vmn2r91	T	A	17: 18,356,838 (GRCm39)	L835*	probably null	Het
Vps52	C	A	17: 34,177,283 (GRCm39)	N108K	possibly damaging	Het
Wdpcp	T	A	11: 21,661,585 (GRCm39)	C286S	possibly damaging	Het
Zfp959	T	A	17: 56,205,551 (GRCm39)	H529Q	possibly damaging	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
R0079:Khdrbs2	UTSW	1	32,558,996 (GRCm39)	splice site	probably null
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
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'- GGTACACCTCATAACTTCTCAATG -3'
(R):5'- CACAGGAACTATGTCCTGAGAAG -3'

Sequencing Primer
(F):5'- TTTCTCTTTCTTAACTCACACATGC -3'
(R):5'- ACTATGTCCTGAGAAGGAGGC -3'

Posted On

2019-09-13