Incidental Mutation 'R4578:Srpra'
| ID |
343423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srpra
|
| Ensembl Gene |
ENSMUSG00000032042 |
| Gene Name |
signal recognition particle receptor alpha |
| Synonyms |
D11Mgi27, 1300011P19Rik, Srpr |
| MMRRC Submission |
041800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4578 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35122499-35128299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35125904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 394
(I394T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034541]
[ENSMUST00000043805]
[ENSMUST00000059057]
[ENSMUST00000063782]
[ENSMUST00000121564]
[ENSMUST00000127996]
[ENSMUST00000138287]
[ENSMUST00000139703]
[ENSMUST00000142595]
[ENSMUST00000151658]
[ENSMUST00000154691]
[ENSMUST00000138692]
[ENSMUST00000132799]
|
| AlphaFold |
Q9DBG7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034541
AA Change: I394T
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042
AA Change: I394T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRP-alpha_N
|
27 |
301 |
4.4e-69 |
PFAM |
|
SRP54_N
|
318 |
395 |
4.04e-6 |
SMART |
|
AAA
|
415 |
568 |
9.65e-10 |
SMART |
|
SRP54
|
416 |
635 |
3.47e-78 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043805
|
| SMART Domains |
Protein: ENSMUSP00000038924
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
462 |
2.8e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059057
|
| SMART Domains |
Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
301 |
1.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063782
|
| SMART Domains |
Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2_2
|
75 |
225 |
7.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121564
|
| SMART Domains |
Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
301 |
2.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127996
|
| SMART Domains |
Protein: ENSMUSP00000118037
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
456 |
1.8e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139703
|
| SMART Domains |
Protein: ENSMUSP00000122535
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
184 |
1.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133739
|
| SMART Domains |
Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142595
|
| SMART Domains |
Protein: ENSMUSP00000117147
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
187 |
3.4e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151658
|
| SMART Domains |
Protein: ENSMUSP00000120284
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
65 |
121 |
5.8e-9 |
PFAM |
|
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154691
|
| SMART Domains |
Protein: ENSMUSP00000123496
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138692
|
| SMART Domains |
Protein: ENSMUSP00000120556
Gene: ENSMUSG00000039048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132799
|
| SMART Domains |
Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SRP54
|
3 |
132 |
8.6e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.7184 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,537 (GRCm39) |
Y440* |
probably null |
Het |
| Aldh3b3 |
A |
T |
19: 4,014,832 (GRCm39) |
T110S |
probably benign |
Het |
| Atp2b2 |
T |
C |
6: 113,737,672 (GRCm39) |
T901A |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bfar |
A |
T |
16: 13,505,307 (GRCm39) |
I106F |
probably benign |
Het |
| Btbd10 |
T |
G |
7: 112,921,959 (GRCm39) |
I301L |
possibly damaging |
Het |
| Card14 |
G |
A |
11: 119,217,567 (GRCm39) |
R400H |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,849 (GRCm39) |
R202G |
probably damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Cmtm7 |
A |
C |
9: 114,592,351 (GRCm39) |
I82S |
probably benign |
Het |
| Cngb3 |
T |
A |
4: 19,425,613 (GRCm39) |
W474R |
probably damaging |
Het |
| Coq9 |
T |
C |
8: 95,580,234 (GRCm39) |
V285A |
probably benign |
Het |
| Cp |
A |
G |
3: 20,028,052 (GRCm39) |
E486G |
probably damaging |
Het |
| Crybg3 |
C |
T |
16: 59,350,564 (GRCm39) |
C892Y |
probably damaging |
Het |
| Cttn |
A |
T |
7: 144,008,453 (GRCm39) |
F176L |
probably damaging |
Het |
| Cytip |
T |
A |
2: 58,050,024 (GRCm39) |
N15I |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,477,492 (GRCm39) |
E634G |
possibly damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,258 (GRCm39) |
E906G |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,817,369 (GRCm39) |
S735T |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
A |
1: 44,187,308 (GRCm39) |
V29E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Ftcd |
A |
C |
10: 76,425,092 (GRCm39) |
E524D |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,454,878 (GRCm39) |
M1V |
probably null |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Gsta4 |
A |
T |
9: 78,113,302 (GRCm39) |
R127S |
probably benign |
Het |
| Hcn2 |
G |
A |
10: 79,560,282 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,798,715 (GRCm39) |
V2135A |
probably damaging |
Het |
| Hoxc6 |
A |
G |
15: 102,918,093 (GRCm39) |
D19G |
probably benign |
Het |
| Hydin |
A |
T |
8: 110,993,971 (GRCm39) |
T2S |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,489,747 (GRCm39) |
S97T |
possibly damaging |
Het |
| Igkv17-127 |
T |
C |
6: 67,838,183 (GRCm39) |
L14P |
unknown |
Het |
| Il17rb |
A |
G |
14: 29,724,356 (GRCm39) |
V166A |
probably damaging |
Het |
| Iqca1 |
T |
A |
1: 90,001,472 (GRCm39) |
I520F |
probably damaging |
Het |
| Kcnv2 |
G |
T |
19: 27,300,994 (GRCm39) |
V282L |
probably benign |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,763 (GRCm39) |
D684G |
probably benign |
Het |
| Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
| Mis18bp1 |
T |
C |
12: 65,200,655 (GRCm39) |
Y124C |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh2 |
T |
A |
11: 67,064,084 (GRCm39) |
V48D |
possibly damaging |
Het |
| Nat10 |
A |
G |
2: 103,584,417 (GRCm39) |
M120T |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,336,585 (GRCm39) |
S1065P |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Pced1a |
A |
C |
2: 130,264,596 (GRCm39) |
L78R |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,984,486 (GRCm39) |
D192G |
probably benign |
Het |
| Plb1 |
C |
T |
5: 32,404,901 (GRCm39) |
Q20* |
probably null |
Het |
| Pomgnt2 |
G |
A |
9: 121,812,131 (GRCm39) |
R217C |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,339,050 (GRCm39) |
E285G |
probably benign |
Het |
| Sclt1 |
G |
A |
3: 41,625,900 (GRCm39) |
Q356* |
probably null |
Het |
| Scn2b |
T |
C |
9: 45,037,460 (GRCm39) |
F169S |
possibly damaging |
Het |
| Sfta2 |
C |
T |
17: 35,960,775 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
C |
6: 48,440,307 (GRCm39) |
D1541A |
possibly damaging |
Het |
| Strc |
G |
A |
2: 121,208,484 (GRCm39) |
L296F |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Taf6l |
C |
A |
19: 8,761,335 (GRCm39) |
R10L |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,820,841 (GRCm39) |
R617L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,783,444 (GRCm39) |
R1471G |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,067,100 (GRCm39) |
L1714P |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,984,565 (GRCm39) |
M442K |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Vmn2r52 |
A |
T |
7: 9,904,617 (GRCm39) |
H407Q |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,659,474 (GRCm39) |
D1684E |
probably damaging |
Het |
| Wdr49 |
T |
C |
3: 75,242,550 (GRCm39) |
M380V |
probably benign |
Het |
|
| Other mutations in Srpra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Srpra
|
APN |
9 |
35,124,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01806:Srpra
|
APN |
9 |
35,126,201 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02581:Srpra
|
APN |
9 |
35,126,328 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03002:Srpra
|
APN |
9 |
35,126,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03132:Srpra
|
APN |
9 |
35,125,574 (GRCm39) |
splice site |
probably null |
|
|
R0294:Srpra
|
UTSW |
9 |
35,126,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Srpra
|
UTSW |
9 |
35,126,277 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0483:Srpra
|
UTSW |
9 |
35,127,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0531:Srpra
|
UTSW |
9 |
35,124,797 (GRCm39) |
missense |
probably benign |
|
|
R1112:Srpra
|
UTSW |
9 |
35,126,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1507:Srpra
|
UTSW |
9 |
35,126,766 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1771:Srpra
|
UTSW |
9 |
35,124,147 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1970:Srpra
|
UTSW |
9 |
35,124,834 (GRCm39) |
splice site |
probably null |
|
|
R1971:Srpra
|
UTSW |
9 |
35,124,834 (GRCm39) |
splice site |
probably null |
|
|
R2442:Srpra
|
UTSW |
9 |
35,123,297 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4475:Srpra
|
UTSW |
9 |
35,124,155 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4575:Srpra
|
UTSW |
9 |
35,125,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4576:Srpra
|
UTSW |
9 |
35,125,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4793:Srpra
|
UTSW |
9 |
35,124,447 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4930:Srpra
|
UTSW |
9 |
35,126,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4942:Srpra
|
UTSW |
9 |
35,126,766 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5517:Srpra
|
UTSW |
9 |
35,122,646 (GRCm39) |
missense |
probably benign |
|
|
R6208:Srpra
|
UTSW |
9 |
35,127,291 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8340:Srpra
|
UTSW |
9 |
35,127,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8414:Srpra
|
UTSW |
9 |
35,126,133 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8861:Srpra
|
UTSW |
9 |
35,127,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9481:Srpra
|
UTSW |
9 |
35,126,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Srpra
|
UTSW |
9 |
35,125,569 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9765:Srpra
|
UTSW |
9 |
35,122,670 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACAGCCTTTAGGACCTAACAGG -3'
(R):5'- GACCCAGGATTCGAAAGCAC -3'
Sequencing Primer
(F):5'- TAGGACCTAACAGGACAGTTAATTG -3'
(R):5'- TTCGAAAGCACAGGGTGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation