Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Adra1a'

688141

Institutional Source

Beutler Lab

Gene Symbol

Adra1a

Ensembl Gene

ENSMUSG00000045875

Gene Name

adrenergic receptor, alpha 1a

Synonyms

Adra1c

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66635251-66771168 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66638185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 203 (M203K)

Ref Sequence

ENSEMBL: ENSMUSP00000053703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054661] [ENSMUST00000159068] [ENSMUST00000159365] [ENSMUST00000161339] [ENSMUST00000225182]

AlphaFold

P97718

Predicted Effect

probably damaging
Transcript: ENSMUST00000054661
AA Change: M203K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053703
Gene: ENSMUSG00000045875
AA Change: M203K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	341	4.4e-18	PFAM
Pfam:7tm_1	43	326	1.7e-80	PFAM
Pfam:7TM_GPCR_Srv	44	343	4.1e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159068
AA Change: M203K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124570
Gene: ENSMUSG00000045875
AA Change: M203K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	341	4.4e-18	PFAM
Pfam:7tm_1	43	326	3e-84	PFAM
Pfam:7TM_GPCR_Srv	44	343	3.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159365
AA Change: M203K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124322
Gene: ENSMUSG00000045875
AA Change: M203K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	341	1.7e-17	PFAM
Pfam:7tm_1	43	326	1.8e-83	PFAM
Pfam:7TM_GPCR_Srv	44	343	7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161339
AA Change: M203K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125354
Gene: ENSMUSG00000045875
AA Change: M203K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	341	4.4e-18	PFAM
Pfam:7tm_1	43	326	3e-84	PFAM
Pfam:7TM_GPCR_Srv	44	343	3.3e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000225182
AA Change: M203K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: This gene encodes one of several multipass transmembrane proteins that function as G protein-coupled receptors. The encoded protein binds to epinephrine and norepinephrine to mediate signaling in cells of the cardiac, nervous, and other organ systems. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mutations in this gene result in hypotension. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	Het

Other mutations in Adra1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02466:Adra1a	APN	14	66637873	missense	probably damaging	1.00
IGL02751:Adra1a	APN	14	66727532	missense	possibly damaging	0.76
IGL02755:Adra1a	APN	14	66727661	missense	probably benign
IGL03367:Adra1a	APN	14	66637989	missense	possibly damaging	0.89
R0610:Adra1a	UTSW	14	66637792	missense	probably damaging	1.00
R0840:Adra1a	UTSW	14	66727710	missense	possibly damaging	0.73
R1720:Adra1a	UTSW	14	66638278	missense	probably damaging	1.00
R1902:Adra1a	UTSW	14	66638235	missense	probably benign	0.30
R2131:Adra1a	UTSW	14	66727532	missense	possibly damaging	0.76
R2198:Adra1a	UTSW	14	66637936	missense	probably damaging	1.00
R4702:Adra1a	UTSW	14	66637559	start gained	probably benign
R4761:Adra1a	UTSW	14	66727431	splice site	probably null
R4784:Adra1a	UTSW	14	66637824	missense	probably damaging	1.00
R4814:Adra1a	UTSW	14	66638032	missense	probably benign	0.01
R5844:Adra1a	UTSW	14	66727734	missense	probably benign	0.02
R7346:Adra1a	UTSW	14	66638284	missense	probably benign	0.16
R7508:Adra1a	UTSW	14	66637935	missense	probably damaging	1.00
R7689:Adra1a	UTSW	14	66637801	missense	probably damaging	1.00
R8794:Adra1a	UTSW	14	66637615	missense	probably benign	0.32
R8875:Adra1a	UTSW	14	66637765	missense	possibly damaging	0.95
Z1088:Adra1a	UTSW	14	66727496	missense	probably damaging	0.98
Z1176:Adra1a	UTSW	14	66727628	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ACCATTGTCACCCAGAGGAG -3'
(R):5'- GCTTTCTTCTCTCGGGAAAAC -3'

Sequencing Primer
(F):5'- CCAGAGGAGGGGCGTCAG -3'
(R):5'- TCTCTCGGGAAAACTTGAGC -3'

Posted On

2021-11-19