Incidental Mutation 'R4161:Srprb'
| ID |
321531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srprb
|
| Ensembl Gene |
ENSMUSG00000032553 |
| Gene Name |
signal recognition particle receptor, B subunit |
| Synonyms |
|
| MMRRC Submission |
041004-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
103065232-103079264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103078529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 67
(F67S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035157]
[ENSMUST00000112645]
[ENSMUST00000166836]
|
| AlphaFold |
P47758 |
| PDB Structure |
The Structure of the Mammalian SRP Receptor [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035157
AA Change: F67S
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: F67S
| 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 |
probably benign
Transcript: ENSMUST00000112645
|
| SMART Domains |
Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
352 |
5.04e-194 |
SMART |
|
TR_FER
|
360 |
686 |
8.64e-193 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163567
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166836
AA Change: F776S
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: F776S
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (39/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
A |
G |
9: 121,738,588 (GRCm39) |
Y321C |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,919,728 (GRCm39) |
S163P |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,382,234 (GRCm39) |
M70T |
probably benign |
Het |
| Ankrd1 |
T |
A |
19: 36,095,273 (GRCm39) |
K138N |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,281 (GRCm39) |
I339N |
probably damaging |
Het |
| Bltp3a |
A |
G |
17: 28,103,061 (GRCm39) |
Y365C |
probably damaging |
Het |
| Cxcl2 |
A |
T |
5: 91,051,881 (GRCm39) |
|
probably null |
Het |
| Exosc3 |
T |
C |
4: 45,320,619 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,348,853 (GRCm39) |
K86N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,489,824 (GRCm39) |
A3579T |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,996,958 (GRCm39) |
V1726I |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,982,198 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
T |
A |
6: 70,495,542 (GRCm39) |
V23E |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,919 (GRCm39) |
C95R |
possibly damaging |
Het |
| Kif16b |
G |
A |
2: 142,549,324 (GRCm39) |
H1064Y |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,609,272 (GRCm39) |
D377V |
possibly damaging |
Het |
| Oasl1 |
A |
G |
5: 115,075,073 (GRCm39) |
K378E |
possibly damaging |
Het |
| Pds5a |
T |
C |
5: 65,821,839 (GRCm39) |
T120A |
possibly damaging |
Het |
| Phf8-ps |
G |
A |
17: 33,285,023 (GRCm39) |
T593I |
probably benign |
Het |
| Plec |
T |
C |
15: 76,063,851 (GRCm39) |
E2141G |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,724 (GRCm39) |
S395P |
probably damaging |
Het |
| Prss12 |
A |
T |
3: 123,279,176 (GRCm39) |
K418* |
probably null |
Het |
| Rtn3 |
G |
A |
19: 7,460,444 (GRCm39) |
A2V |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,281,898 (GRCm39) |
T452A |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,154 (GRCm39) |
I1395V |
probably benign |
Het |
| Senp7 |
C |
A |
16: 55,973,832 (GRCm39) |
P351Q |
possibly damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spred3 |
A |
G |
7: 28,861,210 (GRCm39) |
L323P |
probably damaging |
Het |
| Tk2 |
T |
C |
8: 104,965,465 (GRCm39) |
S101G |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,930,491 (GRCm39) |
T2059A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,658,751 (GRCm39) |
L1135P |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,460,907 (GRCm39) |
V2723M |
probably damaging |
Het |
| Usp38 |
C |
T |
8: 81,719,967 (GRCm39) |
A421T |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,833,277 (GRCm39) |
N3058K |
probably damaging |
Het |
| Vmn1r221 |
G |
A |
13: 23,402,176 (GRCm39) |
|
noncoding transcript |
Het |
| Vps11 |
C |
G |
9: 44,267,017 (GRCm39) |
G406A |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,356 (GRCm39) |
S707P |
probably damaging |
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 |
|
|
R2853:Srprb
|
UTSW |
9 |
103,076,038 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGACCACGTATTCTAACAGCATC -3'
(R):5'- AACAAAACTGACTCTAATCCGTG -3'
Sequencing Primer
(F):5'- TCTACAGGTACAGGCACTCATGTG -3'
(R):5'- CTGACTCTAATCCGTGTGACAATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation