Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03243:Agtr1b'

414303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agtr1b

Ensembl Gene

ENSMUSG00000054988

Gene Name

angiotensin II receptor, type 1b

Synonyms

Agtr-1b, Angtr-1b, AT1B

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

20314473-20367177 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20315795 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 216 (T216A)

Ref Sequence

ENSEMBL: ENSMUSP00000128724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068316] [ENSMUST00000163776]

Predicted Effect

probably benign
Transcript: ENSMUST00000068316
AA Change: T216A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: T216A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	39	310	5.4e-10	PFAM
Pfam:7tm_1	45	302	3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163776
AA Change: T216A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: T216A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	39	310	5.4e-10	PFAM
Pfam:7tm_1	45	302	1.1e-65	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal, but homozygotes for the Agtr1b/Agtr1a double knockout exhibit reductions in growth, survival, blood pressure, and kidney size not found in either single knockout. [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
Adam26a	T	C	8: 43,568,696	T586A	probably benign	Het
Ankdd1a	T	C	9: 65,501,470	R505G	probably benign	Het
Anxa3	A	T	5: 96,828,692		probably benign	Het
Atp6v1c2	C	T	12: 17,289,121	V210I	probably benign	Het
BC034090	G	A	1: 155,225,655	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,406,819	H200R	probably benign	Het
Cntnap5c	G	T	17: 58,102,176	A470S	probably benign	Het
Fcho2	G	A	13: 98,777,384		probably benign	Het
Frem1	A	C	4: 83,013,969	L165R	probably damaging	Het
Gm5155	A	T	7: 17,918,649		noncoding transcript	Het
Gpn1	G	A	5: 31,510,831		probably null	Het
Gpr179	T	C	11: 97,351,475	N181S	probably benign	Het
Heatr5b	A	T	17: 78,763,080		probably benign	Het
Kat6a	A	G	8: 22,910,222	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,630,159	T442A	probably benign	Het
Myo15	G	T	11: 60,496,518	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,365,032	D957A	probably damaging	Het
Nupl1	T	A	14: 60,221,616	T521S	probably benign	Het
Olfr58	T	G	9: 19,783,268	I45S	probably damaging	Het
Plek	C	A	11: 16,995,319	V4L	possibly damaging	Het
Sell	T	A	1: 164,065,342	H42Q	possibly damaging	Het
Slfn8	A	T	11: 83,003,707	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387	I573V	probably benign	Het
Tgm1	T	A	14: 55,705,907	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,276,150	S203T	probably benign	Het
Tox	T	C	4: 6,697,597	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 52,770,098		probably benign	Het
Unc13d	A	T	11: 116,067,844	V784D	probably benign	Het
Vmn2r68	A	G	7: 85,233,755	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,634,747	V56D	probably damaging	Het
Znrf2	A	T	6: 54,884,769	I222L	possibly damaging	Het

Other mutations in Agtr1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01558:Agtr1b	APN	3	20316260	missense	probably damaging	0.99
IGL02706:Agtr1b	APN	3	20315863	missense	probably benign	0.01
IGL02958:Agtr1b	APN	3	20316094	missense	possibly damaging	0.91
R0125:Agtr1b	UTSW	3	20315540	missense	probably benign	0.00
R0565:Agtr1b	UTSW	3	20315674	missense	probably damaging	0.99
R0661:Agtr1b	UTSW	3	20315999	missense	possibly damaging	0.83
R1070:Agtr1b	UTSW	3	20315748	missense	probably benign	0.34
R1469:Agtr1b	UTSW	3	20315500	missense	probably damaging	1.00
R1469:Agtr1b	UTSW	3	20315500	missense	probably damaging	1.00
R1713:Agtr1b	UTSW	3	20316309	missense	probably benign	0.00
R4502:Agtr1b	UTSW	3	20315798	missense	probably damaging	1.00
R5613:Agtr1b	UTSW	3	20316260	missense	probably damaging	0.99
R6142:Agtr1b	UTSW	3	20316394	missense	probably benign	0.06
R6320:Agtr1b	UTSW	3	20315779	missense	probably benign	0.22
R6667:Agtr1b	UTSW	3	20315749	missense	possibly damaging	0.91
R6987:Agtr1b	UTSW	3	20316421	missense	probably benign	0.00
R7407:Agtr1b	UTSW	3	20315731	missense	possibly damaging	0.79
R7598:Agtr1b	UTSW	3	20315913	missense	possibly damaging	0.91
X0037:Agtr1b	UTSW	3	20316388	missense	probably damaging	1.00
X0060:Agtr1b	UTSW	3	20316388	missense	probably damaging	1.00
X0063:Agtr1b	UTSW	3	20316388	missense	probably damaging	1.00
X0063:Agtr1b	UTSW	3	20315506	missense	probably damaging	1.00

Posted On

2016-08-02