Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Uts2'

405402

Institutional Source

Beutler Lab

Gene Symbol

Uts2

Ensembl Gene

ENSMUSG00000028963

Gene Name

urotensin 2

Synonyms

urotensin II precursor, prepro-UII, Ucn2

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151081554-151086267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 151083508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 40 (A40S)

Ref Sequence

ENSEMBL: ENSMUSP00000030803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030803] [ENSMUST00000103204] [ENSMUST00000169423]

AlphaFold

Q9QZQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030803
AA Change: A40S

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030803
Gene: ENSMUSG00000028963
AA Change: A40S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
Pfam:Urotensin_II	112	123	3.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103204

SMART Domains

Protein: ENSMUSP00000099493
Gene: ENSMUSG00000028957

Domain	Start	End	E-Value	Type
PAS	115	187	2.86e1	SMART
PAS	258	324	1.31e-5	SMART
PAC	333	376	1.52e-1	SMART
low complexity region	414	427	N/A	INTRINSIC
low complexity region	613	627	N/A	INTRINSIC
low complexity region	799	814	N/A	INTRINSIC
low complexity region	845	860	N/A	INTRINSIC
Pfam:Period_C	905	1111	4.4e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138052

Predicted Effect

probably benign
Transcript: ENSMUST00000169423

SMART Domains

Protein: ENSMUSP00000127916
Gene: ENSMUSG00000014592

Domain	Start	End	E-Value	Type
CG-1	67	183	1.39e-91	SMART
low complexity region	550	583	N/A	INTRINSIC
low complexity region	677	688	N/A	INTRINSIC
Pfam:TIG	874	954	3.1e-11	PFAM
low complexity region	997	1030	N/A	INTRINSIC
ANK	1066	1095	1.7e2	SMART
ANK	1111	1141	4.73e2	SMART
low complexity region	1301	1319	N/A	INTRINSIC
IQ	1548	1564	2.38e2	SMART
IQ	1578	1600	5.42e0	SMART

Meta Mutation Damage Score

0.1241

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: This gene encodes a member of the urotensin family of peptide hormones. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional hormone before secretion into the plasma. Mice lacking the encoded protein have a significantly decreased low density lipoprotein cholesterol profile and hepatic steatosis that is consistent with decreased hepatocyte de novo cholesterol synthesis and apolipoprotein B secretion. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in macrophage and hepatic cholesterol homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,187,196 (GRCm39)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,808,694 (GRCm39)		probably benign	Het
Cacna1s	G	A	1: 136,023,523 (GRCm39)	V674M	probably benign	Het
Cavin2	T	C	1: 51,329,029 (GRCm39)		probably null	Het
Cd300lb	T	C	11: 114,815,763 (GRCm39)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,407,121 (GRCm39)	V132A	probably benign	Het
Ddi2	G	T	4: 141,412,076 (GRCm39)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,847,151 (GRCm39)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epsti1	T	A	14: 78,142,090 (GRCm39)	H55Q	probably benign	Het
Flad1	T	C	3: 89,318,503 (GRCm39)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,496,981 (GRCm39)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,020,887 (GRCm39)	W1099L	probably damaging	Het
Gm9892	T	C	8: 52,649,964 (GRCm39)		noncoding transcript	Het
Gmeb2	A	G	2: 180,897,779 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Gvin-ps3	A	T	7: 105,681,055 (GRCm39)		noncoding transcript	Het
Hltf	T	C	3: 20,162,276 (GRCm39)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,139,820 (GRCm39)	Q902L	probably null	Het
Kcnt2	C	T	1: 140,537,353 (GRCm39)	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lama5	A	C	2: 179,835,594 (GRCm39)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,701,567 (GRCm39)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,292,549 (GRCm39)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,751,445 (GRCm39)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,590,961 (GRCm39)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,124,061 (GRCm39)	S386P	probably damaging	Het
Mylk3	A	C	8: 86,082,060 (GRCm39)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,786,032 (GRCm39)	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,555,745 (GRCm39)	S2G	unknown	Het
Olfr908	T	C	9: 38,427,412 (GRCm39)	F28S	probably damaging	Het
Or10z1	G	T	1: 174,078,322 (GRCm39)	T57K	possibly damaging	Het
Or2n1d	C	T	17: 38,646,347 (GRCm39)	Q100*	probably null	Het
Or4x6	A	T	2: 89,949,043 (GRCm39)	W300R	probably damaging	Het
Pkd1	T	C	17: 24,795,048 (GRCm39)	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,701,319 (GRCm39)	T1539I	possibly damaging	Het
Plch2	G	T	4: 155,074,456 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,434,609 (GRCm39)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,178,448 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,462,890 (GRCm39)	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,245,707 (GRCm39)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,836,066 (GRCm39)	E575G	probably damaging	Het
Sema6b	T	A	17: 56,434,091 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,537,011 (GRCm39)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,737,845 (GRCm39)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,564,444 (GRCm39)	T906K	possibly damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Traf2	A	G	2: 25,410,452 (GRCm39)	L399P	probably damaging	Het
Troap	T	A	15: 98,976,698 (GRCm39)	V274D	probably damaging	Het
Utrn	G	A	10: 12,277,099 (GRCm39)	T3406M	probably damaging	Het
Vmn2r109	T	A	17: 20,774,603 (GRCm39)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 84,786,230 (GRCm39)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,559 (GRCm39)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,553,981 (GRCm39)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,437,955 (GRCm39)		probably benign	Het
Zfp882	T	A	8: 72,668,204 (GRCm39)	F344I	probably damaging	Het

Other mutations in Uts2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2353:Uts2	UTSW	4	151,084,593 (GRCm39)	splice site	probably null
R5689:Uts2	UTSW	4	151,083,565 (GRCm39)	missense	possibly damaging	0.53
R5946:Uts2	UTSW	4	151,083,506 (GRCm39)	missense	probably benign	0.02
R8199:Uts2	UTSW	4	151,086,115 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTTCCTCCATGGACTCCTGATG -3'
(R):5'- TCAGGTCTCAGAAGGGTACACAG -3'

Sequencing Primer
(F):5'- CATGGACTCCTGATGACTGGCATAG -3'
(R):5'- TCTCAGAAGGGTACACAGAGTTTG -3'

Posted On

2016-07-22