Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Tac2'

217817

Institutional Source

Beutler Lab

Gene Symbol

Tac2

Ensembl Gene

ENSMUSG00000025400

Gene Name

tachykinin 2

Synonyms

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

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127560347-127567637 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 127564349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026466] [ENSMUST00000179960]

AlphaFold

P55099

Predicted Effect

probably null
Transcript: ENSMUST00000026466

SMART Domains

Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400

Domain	Start	End	E-Value	Type
Pfam:Neurokinin_B	1	55	3.1e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000179960

SMART Domains

Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,908,316 (GRCm39)	D157V	probably damaging	Het
Abcg5	A	G	17: 84,977,803 (GRCm39)	V151A	probably damaging	Het
Acss3	A	G	10: 106,772,029 (GRCm39)	V682A	probably benign	Het
Adamts9	A	T	6: 92,836,830 (GRCm39)	C641S	probably damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Ankrd27	T	A	7: 35,303,264 (GRCm39)	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,855,266 (GRCm39)	L182Q	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,391,547 (GRCm39)	K240R	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
Atp13a2	A	G	4: 140,731,572 (GRCm39)	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,685 (GRCm39)	M1160K	probably damaging	Het
Cdk12	A	G	11: 98,110,042 (GRCm39)	T688A	probably benign	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Crabp2	T	C	3: 87,856,193 (GRCm39)	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279 (GRCm39)		probably null	Het
Crk	T	C	11: 75,583,496 (GRCm39)	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,908,204 (GRCm39)	I215T	probably benign	Het
D130043K22Rik	A	G	13: 25,069,578 (GRCm39)	Y879C	probably damaging	Het
Depdc5	T	C	5: 33,061,175 (GRCm39)	V334A	probably damaging	Het
Dgkh	T	C	14: 78,855,981 (GRCm39)	N231S	probably damaging	Het
Disp2	T	A	2: 118,622,704 (GRCm39)	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553 (GRCm39)	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,040,132 (GRCm39)	R498H	probably damaging	Het
F10	T	C	8: 13,105,422 (GRCm39)	I329T	probably damaging	Het
Fam13b	G	T	18: 34,578,382 (GRCm39)	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,242,518 (GRCm39)	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502 (GRCm39)	M528K	probably damaging	Het
Gcc2	A	G	10: 58,121,965 (GRCm39)	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Ggn	T	A	7: 28,871,341 (GRCm39)	S240R	probably damaging	Het
Git2	C	T	5: 114,887,398 (GRCm39)	W299*	probably null	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5134	T	C	10: 75,840,680 (GRCm39)	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,145,490 (GRCm39)	V114L	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,992,202 (GRCm39)		probably null	Het
Hnrnpk	A	T	13: 58,544,000 (GRCm39)		probably null	Het
Ifna4	A	T	4: 88,760,311 (GRCm39)	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,757,471 (GRCm39)		probably benign	Het
Lrrc69	A	G	4: 14,665,986 (GRCm39)	V324A	possibly damaging	Het
Mefv	T	C	16: 3,535,691 (GRCm39)	Q79R	probably damaging	Het
Mettl17	T	C	14: 52,126,254 (GRCm39)	S168P	probably damaging	Het
Mpp4	A	T	1: 59,197,811 (GRCm39)	S23T	probably benign	Het
Nabp1	A	T	1: 51,517,004 (GRCm39)	V24D	probably damaging	Het
Nod2	T	A	8: 89,390,836 (GRCm39)	F359Y	probably damaging	Het
Or10g1b	C	T	14: 52,628,037 (GRCm39)	M64I	probably benign	Het
Or1p1c	A	T	11: 74,160,670 (GRCm39)	T152S	probably damaging	Het
Or51b17	T	G	7: 103,542,925 (GRCm39)	S6R	probably benign	Het
Or52d3	C	A	7: 104,229,116 (GRCm39)	L88M	probably damaging	Het
Or5ak4	T	C	2: 85,161,444 (GRCm39)	D266G	probably benign	Het
Or5b107	T	C	19: 13,142,560 (GRCm39)	Y61H	probably damaging	Het
Or6a2	C	T	7: 106,600,342 (GRCm39)	A242T	probably damaging	Het
Or7a39	A	G	10: 78,715,267 (GRCm39)	Q87R	probably benign	Het
Pcdh18	T	C	3: 49,710,400 (GRCm39)	H305R	probably benign	Het
Phf1	T	A	17: 27,154,719 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,737,318 (GRCm39)	K379R	probably benign	Het
Polr1f	T	A	12: 33,487,817 (GRCm39)	V244D	probably benign	Het
Pou2f3	T	A	9: 43,056,534 (GRCm39)	T108S	probably benign	Het
Prdm5	C	A	6: 65,913,060 (GRCm39)	T203K	probably damaging	Het
Psma5	A	G	3: 108,173,760 (GRCm39)	S79G	probably benign	Het
Psme4	T	A	11: 30,782,424 (GRCm39)	S889T	probably damaging	Het
Ptk2	A	T	15: 73,087,832 (GRCm39)	V902D	possibly damaging	Het
Rad54l	T	A	4: 115,967,554 (GRCm39)	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,302,679 (GRCm39)	F95L	probably benign	Het
Rassf6	G	A	5: 90,763,730 (GRCm39)	Q71*	probably null	Het
Ryr2	A	T	13: 11,695,966 (GRCm39)	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,346,479 (GRCm39)	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,080,336 (GRCm39)	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,002,048 (GRCm39)	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Spata31g1	A	T	4: 42,970,105 (GRCm39)		probably null	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Tbata	G	A	10: 61,019,256 (GRCm39)	D271N	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tektl1	A	G	10: 78,586,373 (GRCm39)		probably null	Het
Thra	T	A	11: 98,654,567 (GRCm39)	D312E	probably benign	Het
Tlr1	T	A	5: 65,082,520 (GRCm39)	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,631,706 (GRCm39)	F115L	probably benign	Het
Tmem94	A	G	11: 115,679,500 (GRCm39)	D259G	possibly damaging	Het
Trim69	G	A	2: 122,004,956 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,795,159 (GRCm39)	Q243L	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,262,313 (GRCm39)	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,030,846 (GRCm39)	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,553 (GRCm39)	I2686F	probably damaging	Het
Vps8	C	T	16: 21,279,892 (GRCm39)	T281M	probably damaging	Het
Wdfy3	A	G	5: 102,067,275 (GRCm39)	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,621,638 (GRCm39)	C340R	probably damaging	Het
Zfhx3	T	C	8: 109,520,774 (GRCm39)	V632A	probably benign	Het
Zfp1006	A	T	8: 129,948,309 (GRCm39)	D41E	possibly damaging	Het
Zfp341	A	T	2: 154,480,132 (GRCm39)	T528S	probably benign	Het
Zfp990	G	A	4: 145,261,452 (GRCm39)	A33T	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zyx	A	T	6: 42,328,289 (GRCm39)	K166I	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
IGL01552:Tac2	APN	10	127,561,970 (GRCm39)	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- GCCGGCGTTCTGAAGATTAG -3'
(R):5'- CCTCTTAGTTCCTAGTGACCAG -3'

Sequencing Primer
(F):5'- CGTTCTGAAGATTAGATTGGCC -3'
(R):5'- CTCTTAGTTCCTAGTGACCAGACAAG -3'

Posted On

2014-08-01