Mutagenetix > Incidental Mutation

Incidental Mutation 'R9005:Agtr1b'

685195

Institutional Source

Beutler Lab

Gene Symbol

Agtr1b

Ensembl Gene

ENSMUSG00000054988

Gene Name

angiotensin II receptor, type 1b

Synonyms

Agtr-1b, Angtr-1b, AT1B

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20314473-20367177 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20316179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 88 (T88S)

Ref Sequence

ENSEMBL: ENSMUSP00000068298 (fasta)

Gene Model

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

AlphaFold

P29755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068316
AA Change: T88S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068298
Gene: ENSMUSG00000054988
AA Change: T88S

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

possibly damaging
Transcript: ENSMUST00000163776
AA Change: T88S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128724
Gene: ENSMUSG00000054988
AA Change: T88S

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	T	19: 21,652,711		probably benign	Het
Abcd4	C	T	12: 84,608,582	W369*	probably null	Het
Abcf3	A	G	16: 20,549,306	E98G	probably benign	Het
Acaca	A	T	11: 84,371,584	D2004V	probably damaging	Het
Acot5	G	C	12: 84,069,856	M130I		Het
Adamts3	C	T	5: 89,677,834	E1049K	probably benign	Het
Agfg2	A	T	5: 137,652,482	L456Q	probably damaging	Het
Amer2	G	C	14: 60,379,927	D524H	probably damaging	Het
Ankrd61	T	A	5: 143,894,858	T43S	probably benign	Het
Apcs	A	G	1: 172,894,209	L190P	probably benign	Het
Arsg	A	G	11: 109,490,520	K30E	probably benign	Het
Banp	A	T	8: 121,978,702	M104L	possibly damaging	Het
BC048403	A	G	10: 121,750,596	Y272C	probably damaging	Het
BC080695	G	A	4: 143,571,855	D123N	probably benign	Het
Caskin1	A	G	17: 24,499,137	Q268R	probably benign	Het
Ccdc112	A	G	18: 46,296,388	V81A	probably damaging	Het
Cfap44	T	C	16: 44,460,154	I1432T	probably damaging	Het
Chd2	A	T	7: 73,484,546	N684K	probably damaging	Het
Creb1	T	C	1: 64,566,319		probably null	Het
Ctsc	C	T	7: 88,278,294	T31I	probably damaging	Het
Cttnbp2	C	A	6: 18,434,431	R476L	probably damaging	Het
Cwf19l1	T	C	19: 44,123,214	D260G	possibly damaging	Het
Cyp24a1	A	T	2: 170,494,085	S211T	probably damaging	Het
Ddx3y	T	C	Y: 1,282,919	N46D	probably damaging	Het
Dgkz	G	T	2: 91,938,745	H653Q	probably benign	Het
Dnajc16	A	T	4: 141,764,634	I626N	possibly damaging	Het
Dsc2	T	C	18: 20,038,094	D616G	probably benign	Het
Dscam	A	T	16: 96,801,380	S621T	probably damaging	Het
Dst	T	A	1: 34,228,693	V3058E	probably damaging	Het
Ep400	A	T	5: 110,711,093	C1125S	unknown	Het
Glyatl3	G	A	17: 40,912,728	Q41*	probably null	Het
Gm7694	T	G	1: 170,301,358	I201L	probably damaging	Het
Gnal	C	T	18: 67,088,759	R78*	probably null	Het
Gtf3c1	T	C	7: 125,703,897	D122G	probably benign	Het
Htt	G	T	5: 34,817,751	D622Y	possibly damaging	Het
Igkv4-92	A	G	6: 68,755,097	C98R	probably benign	Het
Incenp	G	A	19: 9,877,724	R608*	probably null	Het
Kif3c	G	A	12: 3,401,706	R679H	probably damaging	Het
Kng1	T	A	16: 23,079,396	H515Q	probably damaging	Het
Lamb2	T	C	9: 108,484,171		probably null	Het
Malrd1	A	T	2: 15,845,329	N1253I	unknown	Het
Map3k21	A	T	8: 125,910,732	D19V		Het
March2	G	T	17: 33,696,233	P129Q	probably damaging	Het
Mier2	G	A	10: 79,548,440	R166W	probably damaging	Het
Ms4a4d	T	A	19: 11,556,200	D148E	possibly damaging	Het
Myl4	A	G	11: 104,577,558	D36G	probably damaging	Het
Olfr1375	G	A	11: 51,048,111	M1I	probably null	Het
Olfr206	A	T	16: 59,345,566	I45N	probably damaging	Het
Olfr235	A	G	19: 12,268,340	T37A	probably benign	Het
Olfr447	T	C	6: 42,912,236	S238P	probably damaging	Het
Pard3	G	A	8: 127,277,166	S123N	probably damaging	Het
Parp8	T	C	13: 116,876,590	N638D	probably benign	Het
Pgpep1l	A	T	7: 68,237,658	S65T	probably damaging	Het
Ppp1r13b	A	G	12: 111,830,274	V1068A	probably benign	Het
Prkd1	G	A	12: 50,383,402	Q641*	probably null	Het
Ptgr2	T	C	12: 84,298,099	V82A	possibly damaging	Het
Rbm34	G	A	8: 126,959,582	P225S	possibly damaging	Het
Rnps1	A	T	17: 24,418,522	K46I	unknown	Het
Shank1	T	C	7: 44,352,985	V1376A	probably benign	Het
Ski	A	T	4: 155,221,860	Y221N	probably damaging	Het
Skint6	C	A	4: 113,238,150	G104V	probably damaging	Het
Slit2	G	A	5: 48,302,518	C1380Y	possibly damaging	Het
Smpd3	C	T	8: 106,257,426	G554S	probably benign	Het
Sorbs2	T	G	8: 45,795,737	V675G	probably benign	Het
Spdl1	C	A	11: 34,809,708	C605F	possibly damaging	Het
Syne1	C	A	10: 5,205,406	D5568Y	probably benign	Het
Tac1	C	A	6: 7,559,141	A111D	possibly damaging	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Tnfrsf1a	T	C	6: 125,356,915	C44R	probably damaging	Het
Traf3ip3	T	C	1: 193,181,977	Q366R	probably benign	Het
Trip10	A	G	17: 57,262,416	D479G	probably damaging	Het
Trip11	T	C	12: 101,878,872	T1536A	probably benign	Het
Tstd3	G	T	4: 21,767,082	A13E	possibly damaging	Het
Urb1	T	C	16: 90,753,790	K2058R	probably benign	Het
Usp15	A	T	10: 123,146,798	I304N	possibly damaging	Het
Usp18	T	G	6: 121,252,570	H49Q	probably benign	Het
Vmn1r56	T	A	7: 5,196,390	D76V	probably damaging	Het
Wnk1	A	G	6: 119,962,432	S167P	probably damaging	Het
Zfp229	G	A	17: 21,746,750	A654T	possibly damaging	Het
Zfp977	C	T	7: 42,580,658	V148I	probably benign	Het
Znfx1	A	T	2: 167,038,736	I1240N		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
IGL03243:Agtr1b	APN	3	20315795	missense	probably benign	0.13
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
R8701:Agtr1b	UTSW	3	20316092	missense	probably damaging	0.99
R8791:Agtr1b	UTSW	3	20316116	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GCCAGATGATGATGCAGGTGAC -3'
(R):5'- AGGCTGGCAGGCACAATTAC -3'

Sequencing Primer
(F):5'- AGGTGACTTTGGCGACCAG -3'
(R):5'- GCTGGCAGGCACAATTACATATTTG -3'

Posted On

2021-10-11