Mutagenetix > Incidental Mutation

Incidental Mutation 'R8087:Khdrbs2'

629684

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

067520-MU

Accession Numbers

Essential gene?

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

Stock #

R8087 (G1)

Quality Score

217.009

Status

Not validated

Chromosome

Chromosomal Location

32211795-32697649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32454057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 148 (M148L)

Ref Sequence

ENSEMBL: ENSMUSP00000027226 (fasta)

Gene Model

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

AlphaFold

Q9WU01

Predicted Effect

probably benign
Transcript: ENSMUST00000027226
AA Change: M148L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058
AA Change: M148L

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: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	G	7: 126,430,052 (GRCm39)	V73A	possibly damaging	Het
Abcg1	T	C	17: 31,283,459 (GRCm39)	L48P	probably benign	Het
Ablim1	A	G	19: 57,170,688 (GRCm39)	W18R		Het
Acss1	A	G	2: 150,484,668 (GRCm39)	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,168,324 (GRCm39)	N769S	probably benign	Het
BC004004	T	A	17: 29,513,064 (GRCm39)	L163I	probably damaging	Het
Bco1	A	T	8: 117,835,501 (GRCm39)	T151S	possibly damaging	Het
Btbd8	T	A	5: 107,632,953 (GRCm39)	Y264N	probably damaging	Het
C1ra	G	A	6: 124,490,831 (GRCm39)	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380 (GRCm38)	W527G	probably damaging	Het
Calca	T	C	7: 114,231,809 (GRCm39)	N85D	probably benign	Het
Capn13	A	G	17: 73,623,279 (GRCm39)	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,788,705 (GRCm39)	I381V	probably benign	Het
Ccr1	A	G	9: 123,764,371 (GRCm39)	V53A	probably benign	Het
Cd27	G	T	6: 125,210,325 (GRCm39)	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,188,532 (GRCm39)	V46E	probably damaging	Het
Cspp1	T	G	1: 10,174,489 (GRCm39)	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,441,220 (GRCm39)	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,402,706 (GRCm39)	S3279T	probably benign	Het
Ddx11	T	A	17: 66,456,988 (GRCm39)	Y772N	probably damaging	Het
Dennd11	T	A	6: 40,395,526 (GRCm39)	D194V	possibly damaging	Het
Dgkd	T	A	1: 87,844,569 (GRCm39)	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,840,379 (GRCm39)	T270I	possibly damaging	Het
Elac2	A	G	11: 64,870,034 (GRCm39)	H33R	probably benign	Het
Emilin1	T	A	5: 31,074,444 (GRCm39)	D228E	probably damaging	Het
F2rl1	A	G	13: 95,650,507 (GRCm39)	L125P	probably damaging	Het
Fam186a	A	G	15: 99,839,725 (GRCm39)	V2173A	possibly damaging	Het
Foxp4	C	A	17: 48,215,355 (GRCm39)	G30C	probably damaging	Het
Fyn	T	A	10: 39,405,553 (GRCm39)	L273*	probably null	Het
Garnl3	G	T	2: 32,935,548 (GRCm39)	D196E	probably benign	Het
Glb1	A	T	9: 114,259,483 (GRCm39)	T220S	probably damaging	Het
Hsdl2	G	T	4: 59,592,228 (GRCm39)	A31S	unknown	Het
Irak3	T	A	10: 120,018,440 (GRCm39)	I103F	probably benign	Het
Kif2c	A	T	4: 117,022,615 (GRCm39)	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,534,250 (GRCm39)	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,278,473 (GRCm39)	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,381,002 (GRCm39)	I39L	probably benign	Het
Muc13	G	T	16: 33,619,397 (GRCm39)	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,062,897 (GRCm39)	I721N	probably benign	Het
Ntsr1	A	T	2: 180,141,965 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,212 (GRCm39)		probably null	Het
Or2h2c	T	C	17: 37,422,440 (GRCm39)	I145V	probably benign	Het
Ovol3	A	C	7: 29,933,797 (GRCm39)	D108E	probably damaging	Het
Pcdhb4	C	A	18: 37,441,717 (GRCm39)	N342K	probably damaging	Het
Pcgf3	A	G	5: 108,634,102 (GRCm39)	D120G	probably benign	Het
Pde6b	T	C	5: 108,536,328 (GRCm39)	V8A	probably benign	Het
Pkhd1	G	T	1: 20,593,313 (GRCm39)	T1600K	probably damaging	Het
Pkp3	A	G	7: 140,667,551 (GRCm39)	I451V	possibly damaging	Het
Plce1	A	G	19: 38,724,965 (GRCm39)	T1439A	probably damaging	Het
Prr27	C	A	5: 87,994,168 (GRCm39)	N347K	probably benign	Het
Prss41	T	C	17: 24,056,076 (GRCm39)	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,369,248 (GRCm39)	I457V	probably benign	Het
Rspry1	G	A	8: 95,380,925 (GRCm39)	V534M	probably benign	Het
Rxrb	T	C	17: 34,254,763 (GRCm39)	V306A	probably benign	Het
Sim1	T	C	10: 50,785,651 (GRCm39)	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,886,887 (GRCm39)	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,643,747 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,375,698 (GRCm39)	M993T	probably benign	Het
Sstr2	G	A	11: 113,515,501 (GRCm39)	R140H	probably damaging	Het
Syne1	C	T	10: 5,283,034 (GRCm39)	R1553Q	probably benign	Het
Tchp	T	C	5: 114,857,665 (GRCm39)	I386T	probably damaging	Het
Tmem273	G	T	14: 32,507,926 (GRCm39)		probably benign	Het
Traf7	G	T	17: 24,731,038 (GRCm39)	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,155,957 (GRCm39)	L798F	probably damaging	Het
Ttc3	C	T	16: 94,243,812 (GRCm39)	P1272L	probably benign	Het
Ttf2	G	T	3: 100,871,412 (GRCm39)	A83E	probably damaging	Het
Uba3	T	A	6: 97,162,344 (GRCm39)	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,550,550 (GRCm39)		probably null	Het
Ulk4	A	G	9: 121,095,317 (GRCm39)	L112P	probably damaging	Het
Unc5a	A	G	13: 55,143,985 (GRCm39)	N150S	probably damaging	Het
Vac14	A	T	8: 111,446,532 (GRCm39)	K760N	probably benign	Het
Vmn2r113	A	T	17: 23,177,711 (GRCm39)	I832L	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,697,094 (GRCm39)	Y717F	probably benign	Het
Xpot	T	C	10: 121,437,232 (GRCm39)	I830V	probably benign	Het
Zfp101	G	A	17: 33,599,977 (GRCm39)	T593I	probably benign	Het
Zfp54	A	C	17: 21,655,260 (GRCm39)	T585P	probably damaging	Het
Zfp663	T	C	2: 165,195,679 (GRCm39)	D180G	probably benign	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
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
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'- TGCTTACATGGTAGCCCTTTG -3'
(R):5'- CCTTGTATTATCGACTCTACACATGG -3'

Sequencing Primer
(F):5'- ACATGGTAGCCCTTTGTCATG -3'
(R):5'- GAAACTGATGAGAAACCATTTG -3'

Posted On

2020-06-30