Incidental Mutation 'R8335:Tacr2'
| ID |
644584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tacr2
|
| Ensembl Gene |
ENSMUSG00000020081 |
| Gene Name |
tachykinin receptor 2 |
| Synonyms |
Tac2r |
| MMRRC Submission |
067863-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R8335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62088217-62101769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62100946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 352
(H352L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020278]
[ENSMUST00000072357]
[ENSMUST00000099691]
[ENSMUST00000116238]
[ENSMUST00000130422]
|
| AlphaFold |
P30549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020278
AA Change: H352L
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020278
Gene: ENSMUSG00000020081
AA Change: H352L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
44 |
322 |
1.9e-11 |
PFAM |
|
Pfam:7tm_1
|
50 |
307 |
4e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072357
|
| SMART Domains |
Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
25 |
224 |
1.2e-70 |
PFAM |
|
Pfam:Hexokinase_2
|
229 |
486 |
8e-79 |
PFAM |
|
Pfam:Hexokinase_1
|
496 |
695 |
7e-76 |
PFAM |
|
Pfam:Hexokinase_2
|
700 |
934 |
4.2e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099691
|
| SMART Domains |
Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
16 |
221 |
1.9e-86 |
PFAM |
|
Pfam:Hexokinase_2
|
223 |
462 |
1e-102 |
PFAM |
|
Pfam:Hexokinase_1
|
464 |
669 |
1.1e-90 |
PFAM |
|
Pfam:Hexokinase_2
|
671 |
910 |
2.2e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116238
|
| SMART Domains |
Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
21 |
225 |
1.3e-85 |
PFAM |
|
Pfam:Hexokinase_2
|
227 |
357 |
3.6e-56 |
PFAM |
|
Pfam:Hexokinase_2
|
362 |
489 |
9.3e-41 |
PFAM |
|
Pfam:Hexokinase_1
|
491 |
696 |
2e-90 |
PFAM |
|
Pfam:Hexokinase_2
|
698 |
937 |
3.8e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130422
|
| SMART Domains |
Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexokinase_1
|
16 |
220 |
1.4e-85 |
PFAM |
|
Pfam:Hexokinase_2
|
222 |
461 |
1e-102 |
PFAM |
|
Pfam:Hexokinase_1
|
463 |
668 |
1.1e-90 |
PFAM |
|
Pfam:Hexokinase_2
|
670 |
909 |
2.2e-109 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc47 |
C |
G |
11: 106,099,084 (GRCm39) |
E202D |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,099,085 (GRCm39) |
E202G |
probably damaging |
Het |
| Depdc1a |
C |
A |
3: 159,228,859 (GRCm39) |
P537Q |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,084,941 (GRCm39) |
M2816K |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,481,628 (GRCm39) |
|
probably null |
Het |
| Gm6356 |
A |
G |
14: 6,971,838 (GRCm38) |
M99T |
probably benign |
Het |
| Ighv1-67 |
A |
C |
12: 115,567,744 (GRCm39) |
V56G |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,766,130 (GRCm39) |
L218Q |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,584 (GRCm39) |
R494C |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,401 (GRCm39) |
R784W |
probably damaging |
Het |
| Mttp |
C |
T |
3: 137,808,973 (GRCm39) |
D697N |
possibly damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,543 (GRCm39) |
M427L |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,204 (GRCm39) |
I52V |
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,024 (GRCm39) |
N158D |
probably benign |
Het |
| Or4a67 |
G |
T |
2: 88,598,117 (GRCm39) |
P181T |
probably damaging |
Het |
| Or8k3b |
T |
A |
2: 86,520,512 (GRCm39) |
D269V |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,971,122 (GRCm39) |
H409R |
unknown |
Het |
| Pkp3 |
T |
C |
7: 140,667,669 (GRCm39) |
I490T |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,848 (GRCm39) |
V236L |
probably damaging |
Het |
| Pm20d2 |
T |
C |
4: 33,189,245 (GRCm39) |
S46G |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,569 (GRCm39) |
|
probably null |
Het |
| Ptpn3 |
A |
T |
4: 57,235,286 (GRCm39) |
L358I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,052,096 (GRCm39) |
T758A |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,012,801 (GRCm39) |
R1212C |
probably benign |
Het |
| Sox6 |
G |
A |
7: 115,300,949 (GRCm39) |
L173F |
probably damaging |
Het |
| Spata20 |
T |
C |
11: 94,373,369 (GRCm39) |
K501E |
probably benign |
Het |
| Stat2 |
G |
A |
10: 128,112,452 (GRCm39) |
V31I |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,183 (GRCm39) |
N378Y |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,029,466 (GRCm39) |
K230E |
possibly damaging |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,352 (GRCm39) |
S238P |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,609 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,707,077 (GRCm39) |
I661M |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,977 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,445 (GRCm39) |
S814P |
probably damaging |
Het |
| Vsig10 |
T |
C |
5: 117,486,435 (GRCm39) |
L448P |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,230,603 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,974,726 (GRCm39) |
K423* |
probably null |
Het |
|
| Other mutations in Tacr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02756:Tacr2
|
APN |
10 |
62,097,469 (GRCm39) |
splice site |
probably benign |
|
|
R1538:Tacr2
|
UTSW |
10 |
62,097,106 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3161:Tacr2
|
UTSW |
10 |
62,101,024 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3162:Tacr2
|
UTSW |
10 |
62,101,024 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3162:Tacr2
|
UTSW |
10 |
62,101,024 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3889:Tacr2
|
UTSW |
10 |
62,100,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Tacr2
|
UTSW |
10 |
62,088,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Tacr2
|
UTSW |
10 |
62,097,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Tacr2
|
UTSW |
10 |
62,097,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Tacr2
|
UTSW |
10 |
62,097,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5751:Tacr2
|
UTSW |
10 |
62,088,769 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Tacr2
|
UTSW |
10 |
62,097,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7412:Tacr2
|
UTSW |
10 |
62,097,427 (GRCm39) |
nonsense |
probably null |
|
|
R8723:Tacr2
|
UTSW |
10 |
62,094,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Tacr2
|
UTSW |
10 |
62,088,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Tacr2
|
UTSW |
10 |
62,094,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCGAGGCTTCTTTGCAAGG -3'
(R):5'- ATGTAAGGGCTTTTCCATCAGC -3'
Sequencing Primer
(F):5'- TCTTTGCAAGGGAGCTAATCTC -3'
(R):5'- TCAGCCGATTCTCAAAGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation