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

068873-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66872700-67008617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66875634 bp (GRCm39)

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: 145,644,848 (GRCm39)	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,885,420 (GRCm39)	L146P		Het
Adtrp	G	A	13: 41,969,636 (GRCm39)	T89I	possibly damaging	Het
Akt3	G	T	1: 176,886,955 (GRCm39)	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,350,511 (GRCm39)		probably benign	Het
Aplf	T	C	6: 87,640,779 (GRCm39)	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,355,815 (GRCm39)	W618R	probably damaging	Het
Asxl3	C	A	18: 22,585,465 (GRCm39)	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,585,471 (GRCm39)	K132R	probably damaging	Het
Atp11a	T	C	8: 12,878,483 (GRCm39)	M353T	probably damaging	Het
Atp11b	A	G	3: 35,861,038 (GRCm39)	D375G	probably damaging	Het
Cage1	C	T	13: 38,201,338 (GRCm39)	A656T	possibly damaging	Het
Casz1	C	T	4: 149,023,497 (GRCm39)	P801S	probably damaging	Het
Cdc14b	A	T	13: 64,368,758 (GRCm39)		probably benign	Het
Cdin1	A	G	2: 115,607,504 (GRCm39)	T286A	probably benign	Het
Cox6b2	A	G	7: 4,755,086 (GRCm39)	F63L	probably benign	Het
Cramp1	A	C	17: 25,198,603 (GRCm39)	V773G	possibly damaging	Het
Cul7	A	G	17: 46,965,448 (GRCm39)	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,019,790 (GRCm39)	Y243H	possibly damaging	Het
Dnah9	C	A	11: 65,962,925 (GRCm39)	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 106,715,944 (GRCm39)	A298S		Het
Dvl3	G	A	16: 20,342,826 (GRCm39)		probably null	Het
Dynlt2a3	A	G	17: 15,187,942 (GRCm39)	Y111H	probably damaging	Het
Enpp3	T	C	10: 24,674,172 (GRCm39)	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,102,232 (GRCm39)	I289T	possibly damaging	Het
Gm5565	T	C	5: 146,094,849 (GRCm39)	Y299C	probably damaging	Het
Gm57858	A	G	3: 36,087,033 (GRCm39)	I187T	probably benign	Het
Gpat3	A	T	5: 100,994,788 (GRCm39)	M39L	probably benign	Het
Gpr153	T	C	4: 152,364,664 (GRCm39)	L240P	probably damaging	Het
Gpr182	T	C	10: 127,586,517 (GRCm39)	I145V	probably benign	Het
H2-Q4	A	T	17: 35,598,969 (GRCm39)	T80S	possibly damaging	Het
Hnf1a	T	A	5: 115,088,882 (GRCm39)	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261 (GRCm39)	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,877,167 (GRCm39)	C79Y	probably damaging	Het
Lama2	A	G	10: 26,882,697 (GRCm39)	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,391,375 (GRCm39)	Q1350L	probably damaging	Het
Map2k2	G	A	10: 80,955,498 (GRCm39)	V294I	probably benign	Het
Meak7	T	C	8: 120,489,050 (GRCm39)	N411S	probably benign	Het
Mtus1	G	A	8: 41,536,760 (GRCm39)	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,644,621 (GRCm39)	D67G	possibly damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp9b	A	G	7: 19,757,401 (GRCm39)	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,275,803 (GRCm39)	R649H	possibly damaging	Het
Or14a258	A	G	7: 86,035,248 (GRCm39)	S207P	probably benign	Het
Or4a67	C	A	2: 88,598,299 (GRCm39)	R120L	probably damaging	Het
Or5d20-ps1	T	G	2: 87,931,416 (GRCm39)	D305A	unknown	Het
Pi4kb	T	A	3: 94,900,428 (GRCm39)	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,898,190 (GRCm39)	S944P	probably damaging	Het
Podn	C	T	4: 107,878,743 (GRCm39)	V375M	probably damaging	Het
Pramel12	C	A	4: 143,145,673 (GRCm39)	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,599,895 (GRCm39)	H110Q	probably benign	Het
Rasip1	A	G	7: 45,282,066 (GRCm39)	E523G	possibly damaging	Het
Ripor1	T	G	8: 106,342,783 (GRCm39)	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,567,678 (GRCm39)	V714L	probably damaging	Het
Sass6	G	T	3: 116,407,647 (GRCm39)	L254F	probably damaging	Het
Scarf2	G	A	16: 17,624,270 (GRCm39)	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,046,131 (GRCm39)		probably benign	Het
Sh3tc1	C	A	5: 35,863,827 (GRCm39)	A787S	probably benign	Het
Skint5	T	A	4: 113,512,919 (GRCm39)	N871I	unknown	Het
Slc48a1	T	G	15: 97,687,833 (GRCm39)	D62E	probably damaging	Het
Slc6a21	G	A	7: 44,936,398 (GRCm39)	M157I		Het
Slurp2	T	C	15: 74,614,961 (GRCm39)	D60G	probably benign	Het
Sparcl1	G	T	5: 104,240,979 (GRCm39)	N148K	possibly damaging	Het
Spata31e4	C	T	13: 50,856,128 (GRCm39)	R589*	probably null	Het
Spsb2	T	A	6: 124,786,976 (GRCm39)	N236K	probably benign	Het
Sptb	G	T	12: 76,679,308 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,030 (GRCm39)	C41S	probably damaging	Het
Tecta	A	T	9: 42,286,375 (GRCm39)	D760E	probably benign	Het
Tesmin	G	T	19: 3,439,431 (GRCm39)		probably benign	Het
Tiam1	A	C	16: 89,601,776 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,778,946 (GRCm39)	L1219S	probably damaging	Het
Tram1	T	G	1: 13,639,830 (GRCm39)	I306L	probably benign	Het
Trank1	A	C	9: 111,191,500 (GRCm39)	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,031,596 (GRCm39)	H1044R		Het
Ubac2	T	C	14: 122,145,626 (GRCm39)	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,326,296 (GRCm39)	M194L	probably benign	Het
Yju2b	C	T	8: 84,990,527 (GRCm39)	R35Q	probably damaging	Het
Zdhhc1	G	T	8: 106,205,533 (GRCm39)	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,652,292 (GRCm39)	V42I	probably damaging	Het
Zfp81	A	G	17: 33,553,387 (GRCm39)	C476R	probably damaging	Het

Other mutations in Adra1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02466:Adra1a	APN	14	66,875,322 (GRCm39)	missense	probably damaging	1.00
IGL02751:Adra1a	APN	14	66,964,981 (GRCm39)	missense	possibly damaging	0.76
IGL02755:Adra1a	APN	14	66,965,110 (GRCm39)	missense	probably benign
IGL03367:Adra1a	APN	14	66,875,438 (GRCm39)	missense	possibly damaging	0.89
R0610:Adra1a	UTSW	14	66,875,241 (GRCm39)	missense	probably damaging	1.00
R0840:Adra1a	UTSW	14	66,965,159 (GRCm39)	missense	possibly damaging	0.73
R1720:Adra1a	UTSW	14	66,875,727 (GRCm39)	missense	probably damaging	1.00
R1902:Adra1a	UTSW	14	66,875,684 (GRCm39)	missense	probably benign	0.30
R2131:Adra1a	UTSW	14	66,964,981 (GRCm39)	missense	possibly damaging	0.76
R2198:Adra1a	UTSW	14	66,875,385 (GRCm39)	missense	probably damaging	1.00
R4702:Adra1a	UTSW	14	66,875,008 (GRCm39)	start gained	probably benign
R4761:Adra1a	UTSW	14	66,964,880 (GRCm39)	splice site	probably null
R4784:Adra1a	UTSW	14	66,875,273 (GRCm39)	missense	probably damaging	1.00
R4814:Adra1a	UTSW	14	66,875,481 (GRCm39)	missense	probably benign	0.01
R5844:Adra1a	UTSW	14	66,965,183 (GRCm39)	missense	probably benign	0.02
R7346:Adra1a	UTSW	14	66,875,733 (GRCm39)	missense	probably benign	0.16
R7508:Adra1a	UTSW	14	66,875,384 (GRCm39)	missense	probably damaging	1.00
R7689:Adra1a	UTSW	14	66,875,250 (GRCm39)	missense	probably damaging	1.00
R8794:Adra1a	UTSW	14	66,875,064 (GRCm39)	missense	probably benign	0.32
R8875:Adra1a	UTSW	14	66,875,214 (GRCm39)	missense	possibly damaging	0.95
Z1088:Adra1a	UTSW	14	66,964,945 (GRCm39)	missense	probably damaging	0.98
Z1176:Adra1a	UTSW	14	66,965,077 (GRCm39)	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