Mutagenetix > Incidental Mutation

Incidental Mutation 'R0610:Adra1a'

54653

Institutional Source

Beutler Lab

Gene Symbol

Adra1a

Ensembl Gene

ENSMUSG00000045875

Gene Name

adrenergic receptor, alpha 1a

Synonyms

Adra1c

MMRRC Submission

038799-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0610 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66872700-67008617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66875241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 72 (D72G)

Ref Sequence

ENSEMBL: ENSMUSP00000153103 (fasta)

Gene Model

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

AlphaFold

P97718

Predicted Effect

probably damaging
Transcript: ENSMUST00000054661
AA Change: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053703
Gene: ENSMUSG00000045875
AA Change: D72G

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: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124570
Gene: ENSMUSG00000045875
AA Change: D72G

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: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124322
Gene: ENSMUSG00000045875
AA Change: D72G

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

noncoding transcript
Transcript: ENSMUST00000160647

Predicted Effect

probably damaging
Transcript: ENSMUST00000161339
AA Change: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125354
Gene: ENSMUSG00000045875
AA Change: D72G

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: D72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9545

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.7%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4930578I06Rik	G	A	14: 64,223,714 (GRCm39)	R21*	probably null	Het
Abca15	A	G	7: 119,965,009 (GRCm39)	E757G	possibly damaging	Het
Abca5	T	C	11: 110,192,353 (GRCm39)	T720A	probably benign	Het
Actr5	T	A	2: 158,474,376 (GRCm39)		probably null	Het
Adgrl3	T	C	5: 81,841,563 (GRCm39)		probably benign	Het
Ahcyl	T	C	16: 45,974,264 (GRCm39)	E371G	probably damaging	Het
Ahnak	G	T	19: 8,985,242 (GRCm39)	L2175F	probably benign	Het
AK157302	A	G	13: 21,679,833 (GRCm39)	T120A	possibly damaging	Het
Apol7a	G	A	15: 77,273,454 (GRCm39)	A336V	probably benign	Het
Asic1	C	A	15: 99,596,780 (GRCm39)	H525Q	probably benign	Het
Atxn7l2	T	C	3: 108,112,090 (GRCm39)	D335G	possibly damaging	Het
Bpgm	G	T	6: 34,481,284 (GRCm39)	R227L	possibly damaging	Het
Calm4	T	A	13: 3,888,320 (GRCm39)	V142E	possibly damaging	Het
Catsperg1	A	T	7: 28,890,044 (GRCm39)	L721Q	probably damaging	Het
Cdh26	A	G	2: 178,091,691 (GRCm39)	I83M	probably damaging	Het
Cep295	A	C	9: 15,234,050 (GRCm39)	S2249A	possibly damaging	Het
Cfhr4	G	A	1: 139,629,584 (GRCm39)	T799I	probably benign	Het
Cln3	A	G	7: 126,179,361 (GRCm39)	F139L	probably damaging	Het
Cmpk2	T	A	12: 26,528,055 (GRCm39)	L424Q	possibly damaging	Het
Col12a1	A	T	9: 79,615,130 (GRCm39)	V53E	probably benign	Het
Csmd1	G	A	8: 15,968,208 (GRCm39)	R3140C	possibly damaging	Het
Dagla	A	G	19: 10,248,922 (GRCm39)	W11R	probably damaging	Het
Dbx2	C	T	15: 95,522,778 (GRCm39)	V310M	probably benign	Het
Disp2	T	A	2: 118,622,717 (GRCm39)	C1150S	probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Dph1	G	T	11: 75,076,783 (GRCm39)		probably benign	Het
Dyrk1b	C	A	7: 27,886,059 (GRCm39)	T594K	probably damaging	Het
Evx2	C	A	2: 74,486,331 (GRCm39)	A353S	probably benign	Het
Garin1b	T	A	6: 29,326,576 (GRCm39)	V231E	probably benign	Het
Greb1	A	C	12: 16,746,443 (GRCm39)	S1276A	probably benign	Het
Hhipl1	T	A	12: 108,285,661 (GRCm39)	C490*	probably null	Het
Hmmr	G	T	11: 40,606,729 (GRCm39)	T231K	probably damaging	Het
Hspa4l	A	C	3: 40,733,832 (GRCm39)	E526D	probably benign	Het
Ibsp	A	G	5: 104,458,000 (GRCm39)	E179G	probably benign	Het
Ift140	C	T	17: 25,254,777 (GRCm39)	A150V	probably benign	Het
Igf2bp2	A	G	16: 21,889,059 (GRCm39)	S416P	probably benign	Het
Ighe	T	C	12: 113,235,363 (GRCm39)	K294E	unknown	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kng2	T	A	16: 22,819,344 (GRCm39)	N231Y	possibly damaging	Het
Lca5	A	T	9: 83,281,792 (GRCm39)	C331S	probably benign	Het
Lrrc1	A	G	9: 77,379,488 (GRCm39)	I101T	possibly damaging	Het
Lrrk2	A	T	15: 91,699,619 (GRCm39)	I2489L	probably benign	Het
Lyz3	A	G	10: 117,073,635 (GRCm39)	F66S	probably benign	Het
Mapk9	A	C	11: 49,754,400 (GRCm39)	N51T	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nek2	T	A	1: 191,554,627 (GRCm39)	V113D	probably damaging	Het
Nr4a3	C	A	4: 48,051,903 (GRCm39)	A248E	probably benign	Het
Nrp1	T	C	8: 129,229,099 (GRCm39)	I859T	probably damaging	Het
Olfm5	A	T	7: 103,803,652 (GRCm39)	Y195*	probably null	Het
Or13j1	T	A	4: 43,706,400 (GRCm39)	H56L	possibly damaging	Het
Or1n2	T	A	2: 36,797,671 (GRCm39)	W238R	probably damaging	Het
Or8g35	A	G	9: 39,381,119 (GRCm39)	L301P	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcnx2	A	G	8: 126,566,426 (GRCm39)	W1006R	probably damaging	Het
Pdpk1	T	C	17: 24,317,145 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,637,838 (GRCm39)	H3731L	probably damaging	Het
Sdr16c5	T	G	4: 4,016,116 (GRCm39)	E103D	possibly damaging	Het
Setdb2	A	C	14: 59,654,919 (GRCm39)	S324A	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc17a8	A	T	10: 89,412,488 (GRCm39)	I499K	probably damaging	Het
Slc2a9	T	A	5: 38,537,285 (GRCm39)	I389F	probably damaging	Het
Slc30a1	T	C	1: 191,641,536 (GRCm39)	V394A	probably damaging	Het
Slc41a2	A	G	10: 83,119,592 (GRCm39)	I390T	possibly damaging	Het
Slco1a1	A	G	6: 141,864,187 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,433,016 (GRCm39)	K1053E	possibly damaging	Het
Smarca2	T	A	19: 26,668,791 (GRCm39)	L930Q	probably damaging	Het
Snx6	T	C	12: 54,798,574 (GRCm39)	H387R	probably damaging	Het
Sox5	A	T	6: 143,779,165 (GRCm39)	M622K	possibly damaging	Het
Ston1	C	A	17: 88,942,709 (GRCm39)	N38K	possibly damaging	Het
Strbp	C	T	2: 37,474,089 (GRCm39)	V658I	probably damaging	Het
Strn3	T	C	12: 51,657,231 (GRCm39)		probably null	Het
Suco	T	G	1: 161,687,072 (GRCm39)	D96A	probably benign	Het
Suco	A	G	1: 161,691,601 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,030,061 (GRCm39)		probably benign	Het
Tmem41b	T	A	7: 109,580,290 (GRCm39)	M25L	probably benign	Het
Tmem41b	T	A	7: 109,580,292 (GRCm39)	D91V	probably damaging	Het
Tmem50b	C	T	16: 91,380,174 (GRCm39)	A68T	probably damaging	Het
Tmprss11e	G	A	5: 86,855,206 (GRCm39)	Q400*	probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc8	A	G	18: 20,970,245 (GRCm39)	V916A	probably damaging	Het
Trdn	G	T	10: 33,350,449 (GRCm39)	V673F	probably damaging	Het
Trim28	G	T	7: 12,759,711 (GRCm39)		probably benign	Het
Txnrd2	T	C	16: 18,291,632 (GRCm39)	V427A	probably damaging	Het
Uggt1	T	C	1: 36,204,587 (GRCm39)		probably benign	Het
Vmn1r36	A	G	6: 66,693,404 (GRCm39)	L51P	probably damaging	Het
Vmn1r63	T	A	7: 5,806,063 (GRCm39)	M190L	possibly damaging	Het
Vmn2r116	T	A	17: 23,606,286 (GRCm39)	N399K	probably damaging	Het
Vmn2r117	T	C	17: 23,694,488 (GRCm39)	N453S	probably benign	Het
Wbp1l	T	A	19: 46,643,109 (GRCm39)	I370N	probably damaging	Het
Zfp445	T	C	9: 122,682,046 (GRCm39)	K632E	probably benign	Het
Zfp850	C	T	7: 27,688,819 (GRCm39)	R463H	probably damaging	Het
Zyg11a	A	G	4: 108,062,054 (GRCm39)	L249P	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
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
R9047:Adra1a	UTSW	14	66,875,634 (GRCm39)	missense	probably damaging	1.00
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'- TGCTTCTGAAGGCTCCAACTGCAC -3'
(R):5'- TTTGGCAGATGGTCTCATCCTCCG -3'

Sequencing Primer
(F):5'- CTCCAACTGCACCCACC -3'
(R):5'- CCTCCTCTGGGTGACAATG -3'

Posted On

2013-07-11