Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Tac2'

90613

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tac2

Ensembl Gene

ENSMUSG00000025400

Gene Name

tachykinin 2

Synonyms

neuropeptide K, substance K, neurokinin 2, neuromedin L, neurokinin alpha, neurokinin A

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

127724478-127731768 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127726101 bp

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]

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
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Gm6614	T	C	6: 141,987,706	K451R	possibly damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	Het

Other mutations in Tac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Tac2	APN	10	127726134	critical splice donor site	probably null
R0465:Tac2	UTSW	10	127729170	splice site	probably benign
R1130:Tac2	UTSW	10	127729502	missense	possibly damaging	0.67
R1956:Tac2	UTSW	10	127728480	splice site	probably null
R1957:Tac2	UTSW	10	127728480	splice site	probably null
R5894:Tac2	UTSW	10	127726102	missense	possibly damaging	0.89

Posted On

2013-12-09