Incidental Mutation 'R3124:Khdrbs2'
| ID |
264182 |
| 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 |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.288)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
32211795-32697649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32558858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 408
(R408L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027226]
|
| 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 |
probably damaging
Transcript: ENSMUST00000050429
AA Change: R408L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085635
Gene: ENSMUSG00000049830
AA Change: R408L
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
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 |
|
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'- GCAGGATTTCCCAGACCATC -3'
(R):5'- CAGTTCTGTGAAAAGATGGACTCG -3'
Sequencing Primer
(F):5'- AGACCATCCTCTTCCTGAAGGTG -3'
(R):5'- GATGGACTCGAGGCATCAATCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation