Incidental Mutation 'R6333:Sctr'
| ID |
513214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sctr
|
| Ensembl Gene |
ENSMUSG00000026387 |
| Gene Name |
secretin receptor |
| Synonyms |
6530402O03Rik |
| MMRRC Submission |
044487-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119934710-119991269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119984182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 357
(F357L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072886]
[ENSMUST00000189037]
|
| AlphaFold |
Q5FWI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072886
AA Change: F372L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387
AA Change: F372L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
|
HormR
|
76 |
146 |
5.18e-21 |
SMART |
|
Pfam:7tm_2
|
153 |
398 |
3.8e-88 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189037
AA Change: F357L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387
AA Change: F357L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
|
HormR
|
61 |
131 |
2.59e-21 |
SMART |
|
Pfam:7tm_2
|
138 |
383 |
1.9e-89 |
PFAM |
|
| Meta Mutation Damage Score |
0.8352 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.9%
- 20x: 93.2%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show polydipsia, polyuria, decreased urine osmolality, higher serum glucose levels, kidney glomerular and tubular pathology, and impaired renal water reabsorption. Homozygotes for a different null allele show impaired synaptic plasticity and social behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
T |
C |
9: 15,203,372 (GRCm39) |
K111R |
probably benign |
Het |
| Abhd18 |
A |
G |
3: 40,888,218 (GRCm39) |
Y354C |
probably benign |
Het |
| Acap1 |
T |
C |
11: 69,774,427 (GRCm39) |
I424V |
possibly damaging |
Het |
| AI182371 |
A |
T |
2: 34,975,281 (GRCm39) |
I306K |
probably damaging |
Het |
| Asb4 |
G |
A |
6: 5,423,597 (GRCm39) |
R248H |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,071,819 (GRCm39) |
T349A |
probably damaging |
Het |
| Bub1b |
T |
C |
2: 118,428,944 (GRCm39) |
|
probably null |
Het |
| Cep85l |
G |
A |
10: 53,225,197 (GRCm39) |
Q131* |
probably null |
Het |
| Chmp2b |
T |
A |
16: 65,337,136 (GRCm39) |
M178L |
possibly damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,355 (GRCm39) |
N84D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,637 (GRCm39) |
|
probably null |
Het |
| Defa34 |
T |
C |
8: 22,155,862 (GRCm39) |
V17A |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,653,856 (GRCm39) |
L947Q |
probably damaging |
Het |
| Dynlt2a1 |
G |
A |
17: 15,261,717 (GRCm39) |
|
probably benign |
Het |
| Ell |
A |
G |
8: 71,044,188 (GRCm39) |
Y578C |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,135 (GRCm39) |
M49L |
probably benign |
Het |
| Fbxw19 |
A |
T |
9: 109,323,751 (GRCm39) |
W75R |
probably benign |
Het |
| Fcgr4 |
A |
G |
1: 170,856,838 (GRCm39) |
Y235C |
probably damaging |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm13030 |
A |
T |
4: 138,598,708 (GRCm39) |
|
probably null |
Het |
| Hdac9 |
T |
C |
12: 34,102,323 (GRCm39) |
M1058V |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,540 (GRCm39) |
F253S |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,289,266 (GRCm39) |
Y3794H |
probably damaging |
Het |
| Mark4 |
G |
A |
7: 19,177,208 (GRCm39) |
T207M |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,249,382 (GRCm39) |
T304A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,148,275 (GRCm39) |
L2657P |
probably damaging |
Het |
| Nufip1 |
A |
C |
14: 76,349,425 (GRCm39) |
K152N |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,331,860 (GRCm39) |
V381A |
probably benign |
Het |
| Pdss1 |
A |
G |
2: 22,791,778 (GRCm39) |
T30A |
probably damaging |
Het |
| Plrg1 |
A |
G |
3: 82,964,102 (GRCm39) |
T12A |
probably damaging |
Het |
| Ppig |
C |
T |
2: 69,579,902 (GRCm39) |
H479Y |
unknown |
Het |
| Prokr2 |
A |
G |
2: 132,215,898 (GRCm39) |
F188L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,150 (GRCm39) |
N130S |
probably benign |
Het |
| Ptar1 |
G |
A |
19: 23,671,686 (GRCm39) |
D30N |
possibly damaging |
Het |
| Rai14 |
G |
T |
15: 10,575,022 (GRCm39) |
Y645* |
probably null |
Het |
| Rnasek |
T |
C |
11: 70,129,252 (GRCm39) |
Y67C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,354,192 (GRCm39) |
V4023A |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Sec14l5 |
G |
A |
16: 4,984,908 (GRCm39) |
V85I |
probably benign |
Het |
| Shld2 |
G |
A |
14: 33,989,565 (GRCm39) |
T447M |
probably damaging |
Het |
| Sirpd |
T |
C |
3: 15,385,671 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spag8 |
T |
C |
4: 43,653,186 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,736 (GRCm39) |
D358G |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,423,331 (GRCm39) |
T672A |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,322,821 (GRCm39) |
Q43* |
probably null |
Het |
| Trmt1l |
T |
A |
1: 151,329,685 (GRCm39) |
S543T |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,432,494 (GRCm39) |
F810S |
probably damaging |
Het |
| Vmn2r104 |
C |
T |
17: 20,249,848 (GRCm39) |
V808I |
probably benign |
Het |
| Zfp3 |
T |
A |
11: 70,662,266 (GRCm39) |
I75N |
probably benign |
Het |
| Zwint |
A |
G |
10: 72,490,784 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sctr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Sctr
|
APN |
1 |
119,972,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Sctr
|
APN |
1 |
119,972,499 (GRCm39) |
splice site |
probably benign |
|
|
IGL02798:Sctr
|
APN |
1 |
119,949,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Sctr
|
APN |
1 |
119,949,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02850:Sctr
|
APN |
1 |
119,972,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03256:Sctr
|
APN |
1 |
119,959,289 (GRCm39) |
splice site |
probably benign |
|
|
PIT4677001:Sctr
|
UTSW |
1 |
119,989,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Sctr
|
UTSW |
1 |
119,971,286 (GRCm39) |
splice site |
probably benign |
|
|
R0166:Sctr
|
UTSW |
1 |
119,983,124 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1678:Sctr
|
UTSW |
1 |
119,964,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1728:Sctr
|
UTSW |
1 |
119,990,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1728:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Sctr
|
UTSW |
1 |
119,990,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1729:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Sctr
|
UTSW |
1 |
119,990,976 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1730:Sctr
|
UTSW |
1 |
119,990,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1730:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Sctr
|
UTSW |
1 |
119,990,976 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1739:Sctr
|
UTSW |
1 |
119,990,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1762:Sctr
|
UTSW |
1 |
119,990,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1762:Sctr
|
UTSW |
1 |
119,990,976 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1762:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Sctr
|
UTSW |
1 |
119,990,987 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1785:Sctr
|
UTSW |
1 |
119,990,976 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1785:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2116:Sctr
|
UTSW |
1 |
119,959,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5522:Sctr
|
UTSW |
1 |
119,964,146 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5776:Sctr
|
UTSW |
1 |
119,984,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5781:Sctr
|
UTSW |
1 |
119,959,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7084:Sctr
|
UTSW |
1 |
119,991,001 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7263:Sctr
|
UTSW |
1 |
119,949,955 (GRCm39) |
missense |
probably benign |
|
|
R7265:Sctr
|
UTSW |
1 |
119,949,955 (GRCm39) |
missense |
probably benign |
|
|
R7266:Sctr
|
UTSW |
1 |
119,949,955 (GRCm39) |
missense |
probably benign |
|
|
R7304:Sctr
|
UTSW |
1 |
119,949,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Sctr
|
UTSW |
1 |
119,949,955 (GRCm39) |
missense |
probably benign |
|
|
R8063:Sctr
|
UTSW |
1 |
119,991,005 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8914:Sctr
|
UTSW |
1 |
119,959,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9146:Sctr
|
UTSW |
1 |
119,982,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9391:Sctr
|
UTSW |
1 |
119,983,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9495:Sctr
|
UTSW |
1 |
119,959,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0067:Sctr
|
UTSW |
1 |
119,935,029 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Sctr
|
UTSW |
1 |
119,964,136 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Sctr
|
UTSW |
1 |
119,949,979 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGACTTTGCAGCCGAAC -3'
(R):5'- TTCAGGCTTGCTAACTCTGC -3'
Sequencing Primer
(F):5'- CTTTGCAGCCGAACTTGAAG -3'
(R):5'- CATCACTGGGATTTTAGGCATGCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation