Incidental Mutation 'R7817:Srr'
| ID |
601601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srr
|
| Ensembl Gene |
ENSMUSG00000001323 |
| Gene Name |
serine racemase |
| Synonyms |
Rgsc34, M100034 |
| MMRRC Submission |
045871-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.260)
|
| Stock # |
R7817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
74797185-74816774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74799524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 317
(V317A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045807]
[ENSMUST00000065211]
[ENSMUST00000108447]
[ENSMUST00000108448]
[ENSMUST00000121738]
[ENSMUST00000123855]
[ENSMUST00000128230]
[ENSMUST00000128556]
[ENSMUST00000138612]
[ENSMUST00000153316]
[ENSMUST00000155702]
|
| AlphaFold |
Q9QZX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045807
|
| SMART Domains |
Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
25 |
N/A |
INTRINSIC |
|
AARP2CN
|
228 |
309 |
1.14e-28 |
SMART |
|
low complexity region
|
373 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
452 |
N/A |
INTRINSIC |
|
coiled coil region
|
453 |
478 |
N/A |
INTRINSIC |
|
DUF663
|
486 |
772 |
2.6e-179 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065211
AA Change: V317A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: V317A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
314 |
3.3e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108447
AA Change: V292A
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: V292A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
179 |
1.8e-41 |
PFAM |
|
Pfam:PALP
|
173 |
289 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108448
AA Change: V317A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: V317A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
314 |
2.1e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121738
AA Change: V317A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: V317A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
314 |
3.3e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123855
|
| SMART Domains |
Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
166 |
1.5e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128230
|
| SMART Domains |
Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128556
|
| SMART Domains |
Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
182 |
2.6e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138612
|
| SMART Domains |
Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PALP
|
19 |
112 |
4.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155702
|
| SMART Domains |
Protein: ENSMUSP00000119868
Gene: ENSMUSG00000038335
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
58 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased D-serine levels in the cerebral cortex and hippocampus, and neuronal damage associated with NMDA excitotoxicity and beta-amyloid peptide 1-42 exposure is decreased. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,224 (GRCm39) |
V338A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bivm |
G |
T |
1: 44,165,561 (GRCm39) |
A4S |
probably benign |
Het |
| Cacng3 |
G |
A |
7: 122,367,822 (GRCm39) |
R234Q |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cftr |
A |
G |
6: 18,267,967 (GRCm39) |
D642G |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,615,949 (GRCm39) |
V443A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,721,356 (GRCm39) |
R1425H |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,442,064 (GRCm39) |
T1588A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,798,206 (GRCm39) |
M207T |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,243 (GRCm39) |
Y322H |
probably damaging |
Het |
| Glud1 |
A |
T |
14: 34,051,244 (GRCm39) |
|
probably null |
Het |
| Gm47189 |
A |
G |
14: 41,492,011 (GRCm39) |
Y89H |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,374,186 (GRCm39) |
M620K |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mocs2 |
A |
G |
13: 114,957,382 (GRCm39) |
E62G |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Nek10 |
C |
T |
14: 15,001,017 (GRCm38) |
P1066S |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,671,632 (GRCm39) |
K876E |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,279 (GRCm39) |
F182I |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,783,327 (GRCm39) |
G60S |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,014,443 (GRCm39) |
Y666H |
probably damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,355 (GRCm39) |
I247V |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,962 (GRCm39) |
E764G |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,982 (GRCm39) |
D649E |
probably benign |
Het |
| Pde7b |
T |
G |
10: 20,319,051 (GRCm39) |
R90S |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,384,483 (GRCm39) |
V625A |
probably damaging |
Het |
| Prdm9 |
G |
A |
17: 15,779,311 (GRCm39) |
R113W |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,572 (GRCm39) |
V89A |
not run |
Het |
| Rad1 |
T |
C |
15: 10,493,404 (GRCm39) |
V277A |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,435,983 (GRCm39) |
L894Q |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,965,460 (GRCm39) |
C10S |
probably damaging |
Het |
| Ryk |
C |
T |
9: 102,768,432 (GRCm39) |
Q361* |
probably null |
Het |
| Serpina3b |
A |
G |
12: 104,099,223 (GRCm39) |
N246S |
probably benign |
Het |
| Timd2 |
A |
T |
11: 46,561,781 (GRCm39) |
C288S |
probably benign |
Het |
| Tomm70a |
C |
T |
16: 56,965,136 (GRCm39) |
A440V |
probably damaging |
Het |
| Trim62 |
T |
C |
4: 128,794,478 (GRCm39) |
V215A |
probably benign |
Het |
| Trio |
C |
G |
15: 27,749,952 (GRCm39) |
V2250L |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Unc13d |
A |
T |
11: 115,967,109 (GRCm39) |
V91D |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,487 (GRCm39) |
I182F |
possibly damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,823 (GRCm39) |
V4D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,815 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,829,741 (GRCm39) |
I755V |
not run |
Het |
|
| Other mutations in Srr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02949:Srr
|
APN |
11 |
74,799,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03268:Srr
|
APN |
11 |
74,803,943 (GRCm39) |
missense |
probably benign |
0.06 |
|
PIT4382001:Srr
|
UTSW |
11 |
74,801,134 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0718:Srr
|
UTSW |
11 |
74,801,891 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1588:Srr
|
UTSW |
11 |
74,799,629 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1960:Srr
|
UTSW |
11 |
74,799,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:Srr
|
UTSW |
11 |
74,799,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Srr
|
UTSW |
11 |
74,799,947 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4112:Srr
|
UTSW |
11 |
74,803,898 (GRCm39) |
missense |
probably benign |
|
|
R4877:Srr
|
UTSW |
11 |
74,798,606 (GRCm39) |
unclassified |
probably benign |
|
|
R5856:Srr
|
UTSW |
11 |
74,803,838 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5959:Srr
|
UTSW |
11 |
74,801,891 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6362:Srr
|
UTSW |
11 |
74,801,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7163:Srr
|
UTSW |
11 |
74,803,828 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7706:Srr
|
UTSW |
11 |
74,803,961 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCATGTCTCTGCTAAGTAC -3'
(R):5'- AACCTACTAGACTCCGGCTC -3'
Sequencing Primer
(F):5'- TCTCTGCTAAGTACAGAATTTACATG -3'
(R):5'- ACTAGACTCCGGCTCCGTTTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation