Incidental Mutation 'IGL01552:Tac2'
ID |
90613 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tac2
|
Ensembl Gene |
ENSMUSG00000025400 |
Gene Name |
tachykinin 2 |
Synonyms |
substance K, neurokinin A, neurokinin 2, neuropeptide K, neurokinin alpha, neuromedin L |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01552
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127560347-127567637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127561970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 25
(E25K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026466]
[ENSMUST00000179960]
|
AlphaFold |
P55099 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026466
AA Change: E25K
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000026466 Gene: ENSMUSG00000025400 AA Change: E25K
Domain | Start | End | E-Value | Type |
Pfam:Neurokinin_B
|
1 |
55 |
3.1e-37 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179960
AA Change: E25K
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000136622 Gene: ENSMUSG00000025400 AA Change: E25K
Domain | Start | End | E-Value | Type |
Pfam:Neurokinin_B
|
1 |
54 |
2.7e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218048
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the tachykinin family of signaling peptides that is widely expressed in the central nervous system and plays a role in diverse processes such as water homeostasis, pulmonary inflammation, cognition, fear memory consolidation and preeclampsia. The encoded protein is enzymatically processed to generate the mature neuropeptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed female sexual maturation and fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl8a |
T |
C |
1: 135,080,606 (GRCm39) |
|
probably null |
Het |
Bivm |
A |
G |
1: 44,165,933 (GRCm39) |
N128D |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,667,040 (GRCm39) |
Y412H |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,056,164 (GRCm39) |
G330V |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,359,206 (GRCm39) |
H155R |
probably damaging |
Het |
Elapor1 |
A |
G |
3: 108,388,628 (GRCm39) |
W252R |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,783,000 (GRCm39) |
V687D |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,748,510 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
G |
T |
11: 49,695,832 (GRCm39) |
E21* |
probably null |
Het |
Gm10197 |
C |
T |
19: 53,360,122 (GRCm39) |
V26I |
possibly damaging |
Het |
Golim4 |
T |
C |
3: 75,863,502 (GRCm39) |
E35G |
probably damaging |
Het |
Igdcc4 |
A |
G |
9: 65,029,784 (GRCm39) |
|
probably benign |
Het |
Ino80d |
A |
G |
1: 63,097,136 (GRCm39) |
|
probably benign |
Het |
Ipo13 |
A |
G |
4: 117,758,161 (GRCm39) |
M734T |
probably benign |
Het |
Klk1b27 |
C |
T |
7: 43,704,039 (GRCm39) |
L61F |
probably damaging |
Het |
Lamtor5 |
T |
C |
3: 107,186,324 (GRCm39) |
V31A |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,424,379 (GRCm39) |
L769* |
probably null |
Het |
Nipsnap1 |
A |
T |
11: 4,839,124 (GRCm39) |
S135C |
probably damaging |
Het |
Or4k35 |
C |
A |
2: 111,100,257 (GRCm39) |
G152C |
probably damaging |
Het |
Pparg |
A |
T |
6: 115,467,083 (GRCm39) |
H452L |
probably benign |
Het |
Rab34 |
C |
T |
11: 78,082,264 (GRCm39) |
A202V |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,656,228 (GRCm39) |
T1923S |
possibly damaging |
Het |
Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
Sh2d4b |
T |
C |
14: 40,582,605 (GRCm39) |
Q195R |
probably benign |
Het |
Sik2 |
C |
A |
9: 50,828,822 (GRCm39) |
|
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,961,286 (GRCm39) |
V111A |
probably benign |
Het |
Slco1a8 |
T |
C |
6: 141,933,432 (GRCm39) |
K451R |
possibly damaging |
Het |
Sptbn5 |
A |
T |
2: 119,884,903 (GRCm39) |
|
probably benign |
Het |
Tnc |
A |
G |
4: 63,888,645 (GRCm39) |
V1807A |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,705,687 (GRCm39) |
|
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,802,820 (GRCm39) |
E464G |
probably damaging |
Het |
|
Other mutations in Tac2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01155:Tac2
|
APN |
10 |
127,562,003 (GRCm39) |
critical splice donor site |
probably null |
|
R0465:Tac2
|
UTSW |
10 |
127,565,039 (GRCm39) |
splice site |
probably benign |
|
R1130:Tac2
|
UTSW |
10 |
127,565,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1956:Tac2
|
UTSW |
10 |
127,564,349 (GRCm39) |
splice site |
probably null |
|
R1957:Tac2
|
UTSW |
10 |
127,564,349 (GRCm39) |
splice site |
probably null |
|
R5894:Tac2
|
UTSW |
10 |
127,561,971 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8750:Tac2
|
UTSW |
10 |
127,564,319 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Posted On |
2013-12-09 |