Incidental Mutation 'R2853:Srprb'
| ID |
252405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srprb
|
| Ensembl Gene |
ENSMUSG00000032553 |
| Gene Name |
signal recognition particle receptor, B subunit |
| Synonyms |
|
| MMRRC Submission |
040446-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2853 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103065232-103079264 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 103076038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 800
(Q800*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035157]
[ENSMUST00000166836]
|
| AlphaFold |
P47758 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035157
AA Change: Q91*
|
| SMART Domains |
Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: Q91*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
49 |
221 |
1.1e-17 |
PFAM |
|
Pfam:SRPRB
|
60 |
239 |
1.2e-75 |
PFAM |
|
Pfam:FeoB_N
|
63 |
214 |
7e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
64 |
179 |
3.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163567
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166836
AA Change: Q800*
|
| SMART Domains |
Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: Q800*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
338 |
4.98e-175 |
SMART |
|
TR_FER
|
346 |
672 |
8.64e-193 |
SMART |
|
Pfam:Arf
|
758 |
928 |
1.5e-15 |
PFAM |
|
Pfam:SRPRB
|
769 |
948 |
1.4e-73 |
PFAM |
|
Pfam:MMR_HSR1
|
773 |
888 |
7.8e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.9713 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
C |
16: 8,418,832 (GRCm39) |
K142T |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
| Angptl7 |
T |
C |
4: 148,584,736 (GRCm39) |
E4G |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,764 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
T |
C |
11: 97,383,420 (GRCm39) |
|
probably null |
Het |
| Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
| Atosb |
A |
G |
4: 43,036,293 (GRCm39) |
L146P |
probably benign |
Het |
| Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
| Chchd1 |
T |
C |
14: 20,754,288 (GRCm39) |
S67P |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,435,645 (GRCm39) |
V1104I |
probably benign |
Het |
| Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
| Dnai4 |
T |
C |
4: 102,907,355 (GRCm39) |
I644V |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
| Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
| Ids |
G |
T |
X: 69,396,776 (GRCm39) |
T329K |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
| Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,427,003 (GRCm39) |
I1107T |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
| Mtm1 |
T |
G |
X: 70,345,389 (GRCm39) |
I437S |
probably damaging |
Het |
| Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
| Ncs1 |
T |
C |
2: 31,177,329 (GRCm39) |
F169L |
probably damaging |
Het |
| Ndst2 |
T |
C |
14: 20,779,964 (GRCm39) |
E92G |
probably damaging |
Het |
| Parm1 |
T |
C |
5: 91,742,124 (GRCm39) |
V164A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
| Scgb1b20 |
A |
C |
7: 33,072,949 (GRCm39) |
K52N |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
| Sik2 |
A |
T |
9: 50,809,597 (GRCm39) |
L612Q |
probably damaging |
Het |
| Ss18l1 |
A |
G |
2: 179,699,914 (GRCm39) |
Y258C |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,063,386 (GRCm39) |
K1567R |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,967 (GRCm39) |
F122S |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
probably benign |
Het |
|
| Other mutations in Srprb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0308:Srprb
|
UTSW |
9 |
103,079,204 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0739:Srprb
|
UTSW |
9 |
103,074,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Srprb
|
UTSW |
9 |
103,067,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Srprb
|
UTSW |
9 |
103,069,406 (GRCm39) |
splice site |
probably benign |
|
|
R2370:Srprb
|
UTSW |
9 |
103,074,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2851:Srprb
|
UTSW |
9 |
103,076,038 (GRCm39) |
nonsense |
probably null |
|
|
R4161:Srprb
|
UTSW |
9 |
103,078,529 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4914:Srprb
|
UTSW |
9 |
103,079,147 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5260:Srprb
|
UTSW |
9 |
103,079,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Srprb
|
UTSW |
9 |
103,076,048 (GRCm39) |
nonsense |
probably null |
|
|
R5624:Srprb
|
UTSW |
9 |
103,074,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Srprb
|
UTSW |
9 |
103,067,415 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9680:Srprb
|
UTSW |
9 |
103,074,807 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9691:Srprb
|
UTSW |
9 |
103,069,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9775:Srprb
|
UTSW |
9 |
103,078,490 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTGACAAGCCACAGTGC -3'
(R):5'- AAGCAGTATGATCGTTTTCAGCTG -3'
Sequencing Primer
(F):5'- ACAGTGCCCCAGTAAGCTTTG -3'
(R):5'- CAGCTGTTTCAAGTAGCATTCG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation