Mutagenetix > Incidental Mutation

Incidental Mutation 'R8875:Adra1a'

676545

Institutional Source

Beutler Lab

Gene Symbol

Adra1a

Ensembl Gene

ENSMUSG00000045875

Gene Name

adrenergic receptor, alpha 1a

Synonyms

Adra1c

MMRRC Submission

068687-MU

Accession Numbers

Essential gene?

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

Stock #

R8875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66872700-67008617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66875214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 63 (Y63F)

Ref Sequence

ENSEMBL: ENSMUSP00000053703 (fasta)

Gene Model

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

AlphaFold

P97718

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054661
AA Change: Y63F

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053703
Gene: ENSMUSG00000045875
AA Change: Y63F

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

possibly damaging
Transcript: ENSMUST00000159068
AA Change: Y63F

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124570
Gene: ENSMUSG00000045875
AA Change: Y63F

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

possibly damaging
Transcript: ENSMUST00000159365
AA Change: Y63F

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124322
Gene: ENSMUSG00000045875
AA Change: Y63F

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

possibly damaging
Transcript: ENSMUST00000161339
AA Change: Y63F

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125354
Gene: ENSMUSG00000045875
AA Change: Y63F

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

possibly damaging
Transcript: ENSMUST00000225182
AA Change: Y63F

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (49/49)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	G	11: 70,126,380 (GRCm39)	V140A		Het
Ablim1	G	T	19: 57,119,386 (GRCm39)	H233N	probably benign	Het
Ank3	A	G	10: 69,660,233 (GRCm39)	D245G	unknown	Het
Ap4e1	T	C	2: 126,877,100 (GRCm39)	I279T	probably damaging	Het
Bap1	T	G	14: 30,975,522 (GRCm39)	F122C	probably damaging	Het
Cdc5l	T	C	17: 45,703,915 (GRCm39)		probably benign	Het
Chd2	A	T	7: 73,151,783 (GRCm39)	I309N	probably damaging	Het
Cnpy3	T	C	17: 47,048,185 (GRCm39)	I177V	probably damaging	Het
Cp	A	G	3: 20,027,994 (GRCm39)	K467E	possibly damaging	Het
D630039A03Rik	T	G	4: 57,910,320 (GRCm39)	N164T	probably benign	Het
Dnah7a	C	A	1: 53,682,682 (GRCm39)	A263S	probably benign	Het
Eif2s1	G	A	12: 78,913,461 (GRCm39)	R54Q	probably damaging	Het
Fasn	A	T	11: 120,703,224 (GRCm39)	D1600E	possibly damaging	Het
Fat1	T	A	8: 45,493,600 (GRCm39)	F3915L	probably damaging	Het
Fiz1	A	T	7: 5,012,093 (GRCm39)	S142T	probably benign	Het
Fnip1	A	G	11: 54,406,380 (GRCm39)	Y1159C	probably damaging	Het
Fsip2	T	A	2: 82,820,782 (GRCm39)	V5505D	possibly damaging	Het
Gabrg3	A	G	7: 56,379,514 (GRCm39)	M296T	probably damaging	Het
Gm11562	A	T	11: 99,511,177 (GRCm39)	S8T	unknown	Het
Hoxd11	A	G	2: 74,513,365 (GRCm39)	D210G	probably benign	Het
Hsd17b2	T	C	8: 118,469,101 (GRCm39)	V171A	possibly damaging	Het
Ifi206	T	C	1: 173,301,353 (GRCm39)	Y775C	unknown	Het
Nherf2	T	A	17: 24,866,703 (GRCm39)		probably null	Het
Nr2f1	A	C	13: 78,337,970 (GRCm39)	I382S	probably damaging	Het
Nrp1	T	A	8: 129,207,472 (GRCm39)		probably null	Het
Or51l4	G	A	7: 103,404,462 (GRCm39)	S110F	probably damaging	Het
Or52h7	A	G	7: 104,213,670 (GRCm39)	T81A	probably benign	Het
Pdcd1	C	T	1: 93,967,092 (GRCm39)	D269N	probably benign	Het
Pira12	A	G	7: 3,897,256 (GRCm39)	S527P	probably damaging	Het
Plbd2	A	G	5: 120,637,121 (GRCm39)	Y114H	probably damaging	Het
Plch1	A	G	3: 63,618,391 (GRCm39)	C715R	probably damaging	Het
Plin4	G	A	17: 56,411,010 (GRCm39)	A1007V	probably benign	Het
Ptprs	G	T	17: 56,742,946 (GRCm39)	P399T	probably damaging	Het
Pum1	T	A	4: 130,507,186 (GRCm39)	I1181N	possibly damaging	Het
Qrich1	A	G	9: 108,436,502 (GRCm39)		probably benign	Het
Rbm12	T	C	2: 155,938,841 (GRCm39)	E477G	probably damaging	Het
Rpl7	T	C	1: 16,173,753 (GRCm39)	K57R	probably benign	Het
Spata31h1	G	A	10: 82,123,476 (GRCm39)	A3178V	probably benign	Het
Stab2	C	T	10: 86,832,728 (GRCm39)	C99Y	probably damaging	Het
Tas1r1	T	A	4: 152,113,047 (GRCm39)	T669S	probably benign	Het
Tle5	A	T	10: 81,400,534 (GRCm39)	I73F	probably benign	Het
Tm2d2	T	C	8: 25,507,443 (GRCm39)	L20P	possibly damaging	Het
Tmem158	G	T	9: 123,089,132 (GRCm39)	A160E	possibly damaging	Het
Tpst2	T	A	5: 112,457,714 (GRCm39)	Y347*	probably null	Het
Trpm3	T	C	19: 22,887,493 (GRCm39)	I876T	probably damaging	Het
Ttc6	T	C	12: 57,751,199 (GRCm39)	F1364L	probably damaging	Het
Ttc6	T	A	12: 57,776,194 (GRCm39)	S1713T	possibly damaging	Het
Vmn2r85	A	G	10: 130,254,171 (GRCm39)	S838P	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,549 (GRCm39)	S69P	possibly damaging	Het
Zfp982	C	A	4: 147,595,320 (GRCm39)	N47K	probably benign	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
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'- CTGGGACCATGGTGCTTCTTTC -3'
(R):5'- GGGTAGCTCACACCAATGTATCG -3'

Sequencing Primer
(F):5'- CTGAAAATGCTTCTGAAGGCTCC -3'
(R):5'- TCACACCAATGTATCGGTCGATGG -3'

Posted On

2021-07-15