Incidental Mutation 'R7240:Tpst2'
| ID |
563135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpst2
|
| Ensembl Gene |
ENSMUSG00000029344 |
| Gene Name |
protein-tyrosine sulfotransferase 2 |
| Synonyms |
D5Ucla3, grt, grm, Tango13b |
| MMRRC Submission |
045347-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R7240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112424557-112463227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112455544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 28
(C28R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031287]
[ENSMUST00000071455]
[ENSMUST00000151947]
|
| AlphaFold |
O88856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031287
AA Change: C28R
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031287
Gene: ENSMUSG00000029344
AA Change: C28R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_3
|
82 |
272 |
8.8e-19 |
PFAM |
|
Pfam:Sulfotransfer_1
|
82 |
284 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071455
AA Change: C28R
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000071399
Gene: ENSMUSG00000029344
AA Change: C28R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_3
|
82 |
276 |
8.4e-16 |
PFAM |
|
Pfam:Sulfotransfer_1
|
82 |
284 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140262
|
| SMART Domains |
Protein: ENSMUSP00000116816
Gene: ENSMUSG00000029344
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3AP2|B
|
2 |
63 |
4e-36 |
PDB |
|
SCOP:d1fmja_
|
3 |
55 |
9e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151947
AA Change: C28R
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198502
|
| Meta Mutation Damage Score |
0.3532 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Spontaneous mutants show a delayed rise and a prolonged deficit of pituitary growth hormone resulting in delayed pubertal growth, hypothyroidism, and an enlarged adenohypophysis with aberrant chromophobic cells. Homozygous null mice show a modest but transient pubertal growth lag and male sterility. [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 |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,382 (GRCm39) |
I59T |
unknown |
Het |
| Aspm |
C |
T |
1: 139,406,389 (GRCm39) |
Q1759* |
probably null |
Het |
| Atn1 |
A |
T |
6: 124,724,861 (GRCm39) |
I124K |
unknown |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,911,198 (GRCm39) |
V879M |
probably benign |
Het |
| Cd300c |
A |
G |
11: 114,850,609 (GRCm39) |
C65R |
possibly damaging |
Het |
| Cd69 |
A |
T |
6: 129,247,005 (GRCm39) |
S112T |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,821,137 (GRCm39) |
T534A |
probably benign |
Het |
| Cdk5rap2 |
T |
A |
4: 70,210,145 (GRCm39) |
D701V |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,874 (GRCm39) |
H157R |
possibly damaging |
Het |
| Dpf1 |
T |
A |
7: 29,011,052 (GRCm39) |
F150L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,166 (GRCm39) |
L689P |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,381,861 (GRCm39) |
M538I |
probably benign |
Het |
| E4f1 |
T |
A |
17: 24,663,299 (GRCm39) |
I669F |
probably damaging |
Het |
| Gm7138 |
T |
C |
10: 77,612,589 (GRCm39) |
T64A |
unknown |
Het |
| Gnai2 |
A |
C |
9: 107,492,972 (GRCm39) |
D310E |
|
Het |
| Iqca1 |
A |
G |
1: 89,998,272 (GRCm39) |
V567A |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,409,587 (GRCm39) |
N249K |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,110,396 (GRCm39) |
V1093A |
possibly damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,582 (GRCm39) |
K188E |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,951,888 (GRCm39) |
V431D |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,795,445 (GRCm39) |
T792A |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,603 (GRCm39) |
H592R |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,362,317 (GRCm39) |
C202R |
probably benign |
Het |
| Or10j2 |
T |
C |
1: 173,098,561 (GRCm39) |
I273T |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,022,140 (GRCm39) |
M121V |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,009 (GRCm39) |
D70G |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,906 (GRCm39) |
M45K |
probably damaging |
Het |
| Parpbp |
G |
A |
10: 87,960,802 (GRCm39) |
T228I |
probably damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,756 (GRCm39) |
V609M |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,830 (GRCm39) |
N543S |
probably damaging |
Het |
| Puf60 |
A |
G |
15: 75,944,388 (GRCm39) |
|
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,730,095 (GRCm39) |
D184E |
probably damaging |
Het |
| Rnase9 |
A |
C |
14: 51,276,436 (GRCm39) |
S181A |
probably benign |
Het |
| Rnpc3 |
T |
A |
3: 113,410,480 (GRCm39) |
R270S |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,322,374 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,386 (GRCm39) |
D1373E |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,306,861 (GRCm39) |
I31S |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,196,599 (GRCm39) |
F712L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,138,875 (GRCm39) |
V529A |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,696,239 (GRCm39) |
N58S |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,076,724 (GRCm39) |
T350I |
possibly damaging |
Het |
| Trbv21 |
A |
T |
6: 41,179,892 (GRCm39) |
K69N |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,771,710 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,679,334 (GRCm39) |
V10796A |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,643,858 (GRCm39) |
T4407A |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,225 (GRCm39) |
H726R |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,383 (GRCm39) |
S80P |
probably benign |
Het |
|
| Other mutations in Tpst2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01727:Tpst2
|
APN |
5 |
112,457,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03268:Tpst2
|
APN |
5 |
112,456,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
blooming
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
|
feldspar
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
|
gypsum
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hot_springs
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1175:Tpst2
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1423:Tpst2
|
UTSW |
5 |
112,455,488 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1537:Tpst2
|
UTSW |
5 |
112,456,286 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2013:Tpst2
|
UTSW |
5 |
112,455,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Tpst2
|
UTSW |
5 |
112,456,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4873:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
|
R4875:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
|
R5272:Tpst2
|
UTSW |
5 |
112,455,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6123:Tpst2
|
UTSW |
5 |
112,456,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6487:Tpst2
|
UTSW |
5 |
112,455,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Tpst2
|
UTSW |
5 |
112,424,600 (GRCm39) |
start gained |
probably benign |
|
|
R6688:Tpst2
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
|
R7625:Tpst2
|
UTSW |
5 |
112,455,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7777:Tpst2
|
UTSW |
5 |
112,457,560 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7797:Tpst2
|
UTSW |
5 |
112,455,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Tpst2
|
UTSW |
5 |
112,455,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Tpst2
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
|
R8875:Tpst2
|
UTSW |
5 |
112,457,714 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCCAGCATCCTGTTTGTGTC -3'
(R):5'- CAGAATGAAGGCCTGCATGG -3'
Sequencing Primer
(F):5'- AGCATCCTGTTTGTGTCCCTATGG -3'
(R):5'- AGCTTCTCACGGCCAGACTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation