Incidental Mutation 'R6875:Tulp2'
| ID |
536372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tulp2
|
| Ensembl Gene |
ENSMUSG00000023467 |
| Gene Name |
tubby-like protein 2 |
| Synonyms |
|
| MMRRC Submission |
044971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R6875 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45481877-45523632 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45518614 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 150
(T150K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000209763]
[ENSMUST00000210299]
[ENSMUST00000210532]
[ENSMUST00000210813]
[ENSMUST00000210868]
[ENSMUST00000211212]
|
| AlphaFold |
P46686 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024233
AA Change: T262K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
AA Change: T262K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
220 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
315 |
556 |
1.1e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042105
|
| SMART Domains |
Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
245 |
333 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
357 |
447 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
Pfam:PP1c_bdg
|
536 |
612 |
8.2e-15 |
PFAM |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085331
AA Change: T138K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
AA Change: T138K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
191 |
432 |
6.2e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107758
AA Change: T150K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
AA Change: T150K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
451 |
4.1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107759
AA Change: T150K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
AA Change: T150K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
444 |
3.4e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107762
AA Change: T262K
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
AA Change: T262K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub_N
|
39 |
295 |
8.8e-36 |
PFAM |
|
Pfam:Tub
|
315 |
556 |
1.3e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167273
|
| SMART Domains |
Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
245 |
333 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
357 |
447 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
Pfam:PP1c_bdg
|
531 |
612 |
1.1e-20 |
PFAM |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210813
AA Change: T150K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210868
AA Change: T150K
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
T |
C |
15: 12,812,068 (GRCm38) |
H270R |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,701,628 (GRCm38) |
I336T |
probably benign |
Het |
| Adam19 |
T |
A |
11: 46,112,875 (GRCm38) |
F177I |
probably benign |
Het |
| Ankrd53 |
T |
C |
6: 83,768,173 (GRCm38) |
V455A |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,925,665 (GRCm38) |
S415P |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,797,352 (GRCm38) |
L614P |
probably benign |
Het |
| Catsper1 |
G |
T |
19: 5,343,963 (GRCm38) |
V668F |
probably damaging |
Het |
| Cluh |
T |
A |
11: 74,661,918 (GRCm38) |
D596E |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,615,107 (GRCm38) |
S407P |
probably benign |
Het |
| Commd6 |
T |
C |
14: 101,634,350 (GRCm38) |
T86A |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,604,657 (GRCm38) |
|
probably null |
Het |
| Eif3l |
A |
G |
15: 79,085,560 (GRCm38) |
D252G |
probably damaging |
Het |
| Epha2 |
A |
T |
4: 141,328,468 (GRCm38) |
S962C |
probably damaging |
Het |
| Fcho1 |
C |
A |
8: 71,714,425 (GRCm38) |
|
probably null |
Het |
| Fgf23 |
G |
T |
6: 127,073,216 (GRCm38) |
G63C |
probably damaging |
Het |
| Flnc |
A |
T |
6: 29,445,749 (GRCm38) |
Y834F |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,588,110 (GRCm38) |
L608P |
probably damaging |
Het |
| Hdac5 |
T |
A |
11: 102,202,276 (GRCm38) |
E545V |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,937,132 (GRCm38) |
M166K |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,665,893 (GRCm38) |
D586G |
probably damaging |
Het |
| Il1f9 |
G |
C |
2: 24,188,621 (GRCm38) |
|
probably null |
Het |
| Ipo13 |
A |
T |
4: 117,904,911 (GRCm38) |
I422N |
possibly damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,112,771 (GRCm38) |
|
probably null |
Het |
| Kat6a |
G |
A |
8: 22,932,361 (GRCm38) |
A896T |
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,735,994 (GRCm38) |
I139T |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,866,342 (GRCm38) |
E332G |
probably damaging |
Het |
| Krt8 |
C |
T |
15: 101,997,908 (GRCm38) |
A389T |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,784,106 (GRCm38) |
S175G |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,809,744 (GRCm38) |
|
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,805,659 (GRCm38) |
Y1709H |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 126,023,194 (GRCm38) |
S1519P |
probably benign |
Het |
| Npnt |
T |
A |
3: 132,909,910 (GRCm38) |
D124V |
probably damaging |
Het |
| Nr1d1 |
A |
T |
11: 98,770,836 (GRCm38) |
|
probably null |
Het |
| Ogdh |
A |
G |
11: 6,340,477 (GRCm38) |
Y365C |
probably benign |
Het |
| Or4f56 |
A |
T |
2: 111,872,961 (GRCm38) |
I298N |
possibly damaging |
Het |
| Phf21b |
A |
T |
15: 84,787,446 (GRCm38) |
C416S |
probably damaging |
Het |
| Prpsap1 |
A |
G |
11: 116,471,438 (GRCm38) |
S373P |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,456,336 (GRCm38) |
N380I |
probably benign |
Het |
| Rab28 |
T |
C |
5: 41,703,534 (GRCm38) |
T26A |
probably damaging |
Het |
| Rbbp8nl |
A |
G |
2: 180,279,226 (GRCm38) |
I455T |
probably benign |
Het |
| Rnft2 |
G |
A |
5: 118,228,818 (GRCm38) |
A285V |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,672,371 (GRCm38) |
Q106K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGAG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Runx2 |
G |
A |
17: 44,814,192 (GRCm38) |
P80L |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,486,644 (GRCm38) |
L1666P |
probably damaging |
Het |
| Siglecf |
A |
C |
7: 43,355,200 (GRCm38) |
T318P |
probably benign |
Het |
| Slc22a1 |
C |
T |
17: 12,667,305 (GRCm38) |
W147* |
probably null |
Het |
| Smchd1 |
T |
C |
17: 71,353,506 (GRCm38) |
I1868V |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,791,902 (GRCm38) |
S203G |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,482,831 (GRCm38) |
K792R |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,673 (GRCm38) |
F100S |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,697,436 (GRCm38) |
M1391I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,035,630 (GRCm38) |
E119G |
probably damaging |
Het |
| Syt11 |
G |
T |
3: 88,762,155 (GRCm38) |
S143R |
possibly damaging |
Het |
| Tiparp |
T |
A |
3: 65,531,642 (GRCm38) |
H126Q |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,242,429 (GRCm38) |
Y386F |
probably benign |
Het |
| Usp31 |
C |
T |
7: 121,649,640 (GRCm38) |
W860* |
probably null |
Het |
| Zfp317 |
A |
G |
9: 19,643,665 (GRCm38) |
R30G |
probably damaging |
Het |
| Zfp709 |
C |
A |
8: 71,889,007 (GRCm38) |
N93K |
possibly damaging |
Het |
|
| Other mutations in Tulp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Tulp2
|
APN |
7 |
45,521,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00942:Tulp2
|
APN |
7 |
45,516,268 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01881:Tulp2
|
APN |
7 |
45,520,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03240:Tulp2
|
APN |
7 |
45,522,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03242:Tulp2
|
APN |
7 |
45,521,858 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03353:Tulp2
|
APN |
7 |
45,516,272 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0063:Tulp2
|
UTSW |
7 |
45,520,860 (GRCm38) |
unclassified |
probably benign |
|
|
R0063:Tulp2
|
UTSW |
7 |
45,520,860 (GRCm38) |
unclassified |
probably benign |
|
|
R0306:Tulp2
|
UTSW |
7 |
45,518,576 (GRCm38) |
unclassified |
probably benign |
|
|
R0648:Tulp2
|
UTSW |
7 |
45,519,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0710:Tulp2
|
UTSW |
7 |
45,520,808 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1168:Tulp2
|
UTSW |
7 |
45,517,842 (GRCm38) |
missense |
probably benign |
|
|
R1345:Tulp2
|
UTSW |
7 |
45,518,721 (GRCm38) |
missense |
probably benign |
0.13 |
|
R1737:Tulp2
|
UTSW |
7 |
45,519,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1854:Tulp2
|
UTSW |
7 |
45,517,943 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1918:Tulp2
|
UTSW |
7 |
45,517,941 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2356:Tulp2
|
UTSW |
7 |
45,518,628 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3012:Tulp2
|
UTSW |
7 |
45,518,763 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3419:Tulp2
|
UTSW |
7 |
45,518,752 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R4236:Tulp2
|
UTSW |
7 |
45,521,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4701:Tulp2
|
UTSW |
7 |
45,517,924 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5367:Tulp2
|
UTSW |
7 |
45,516,651 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6056:Tulp2
|
UTSW |
7 |
45,490,373 (GRCm38) |
splice site |
probably null |
|
|
R6294:Tulp2
|
UTSW |
7 |
45,514,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6432:Tulp2
|
UTSW |
7 |
45,518,588 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7459:Tulp2
|
UTSW |
7 |
45,519,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7556:Tulp2
|
UTSW |
7 |
45,518,581 (GRCm38) |
splice site |
probably null |
|
|
R7676:Tulp2
|
UTSW |
7 |
45,521,027 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7883:Tulp2
|
UTSW |
7 |
45,516,764 (GRCm38) |
splice site |
probably null |
|
|
R8775:Tulp2
|
UTSW |
7 |
45,515,490 (GRCm38) |
missense |
probably benign |
|
|
R8775-TAIL:Tulp2
|
UTSW |
7 |
45,515,490 (GRCm38) |
missense |
probably benign |
|
|
R8804:Tulp2
|
UTSW |
7 |
45,520,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Tulp2
|
UTSW |
7 |
45,521,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAACAGATGTGCCAACTG -3'
(R):5'- ATGCCGTGCTTGTTTCGGAC -3'
Sequencing Primer
(F):5'- ATGTGCCAACTGGATCAGGC -3'
(R):5'- TTTCGGACGATGCGGCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation