Incidental Mutation 'R1321:Ssr2'
ID |
157674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ssr2
|
Ensembl Gene |
ENSMUSG00000041355 |
Gene Name |
signal sequence receptor, beta |
Synonyms |
TRAPbeta |
MMRRC Submission |
039387-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1321 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
88486915-88495727 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 88484261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035785]
[ENSMUST00000192495]
[ENSMUST00000192688]
[ENSMUST00000193069]
[ENSMUST00000193934]
[ENSMUST00000194604]
[ENSMUST00000195014]
|
AlphaFold |
Q9CPW5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035785
|
SMART Domains |
Protein: ENSMUSP00000045456 Gene: ENSMUSG00000041355
Domain | Start | End | E-Value | Type |
Pfam:TRAP_beta
|
3 |
181 |
5.8e-74 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098952
|
SMART Domains |
Protein: ENSMUSP00000136672 Gene: ENSMUSG00000074479
Domain | Start | End | E-Value | Type |
Pfam:RLL
|
2 |
244 |
2.6e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192495
|
SMART Domains |
Protein: ENSMUSP00000141922 Gene: ENSMUSG00000041355
Domain | Start | End | E-Value | Type |
Pfam:TRAP_beta
|
1 |
183 |
1.2e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192688
|
SMART Domains |
Protein: ENSMUSP00000141471 Gene: ENSMUSG00000041355
Domain | Start | End | E-Value | Type |
Pfam:TRAP_beta
|
1 |
117 |
5.6e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193934
|
SMART Domains |
Protein: ENSMUSP00000141325 Gene: ENSMUSG00000041355
Domain | Start | End | E-Value | Type |
Pfam:TRAP_beta
|
1 |
74 |
9e-25 |
PFAM |
Pfam:TRAP_beta
|
72 |
162 |
1.7e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194604
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195014
|
SMART Domains |
Protein: ENSMUSP00000141441 Gene: ENSMUSG00000041355
Domain | Start | End | E-Value | Type |
Pfam:TRAP_beta
|
1 |
181 |
2e-74 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
|
Other mutations in Ssr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02156:Ssr2
|
APN |
3 |
88,491,095 (GRCm39) |
splice site |
probably null |
|
R1991_Ssr2_077
|
UTSW |
3 |
88,484,174 (GRCm39) |
unclassified |
probably benign |
|
R3151_Ssr2_387
|
UTSW |
3 |
88,487,323 (GRCm39) |
missense |
probably damaging |
0.99 |
R0086:Ssr2
|
UTSW |
3 |
88,484,187 (GRCm39) |
unclassified |
probably benign |
|
R1681:Ssr2
|
UTSW |
3 |
88,488,349 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1870:Ssr2
|
UTSW |
3 |
88,483,949 (GRCm39) |
unclassified |
probably benign |
|
R1991:Ssr2
|
UTSW |
3 |
88,484,174 (GRCm39) |
unclassified |
probably benign |
|
R2141:Ssr2
|
UTSW |
3 |
88,483,949 (GRCm39) |
unclassified |
probably benign |
|
R3151:Ssr2
|
UTSW |
3 |
88,487,323 (GRCm39) |
missense |
probably damaging |
0.99 |
R5846:Ssr2
|
UTSW |
3 |
88,488,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R8088:Ssr2
|
UTSW |
3 |
88,487,190 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9106:Ssr2
|
UTSW |
3 |
88,495,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R9647:Ssr2
|
UTSW |
3 |
88,487,206 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCCTAAAGCAACAGGTAAGCCC -3'
(R):5'- CCCCTCAGGCTTCAAATGCAAAGATG -3'
Sequencing Primer
(F):5'- AGCAACTGCATCCTGTGTTAG -3'
(R):5'- GCTTCAAATGCAAAGATGAAACAG -3'
|
Posted On |
2014-02-18 |