Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Adra1a'

238527

Institutional Source

Beutler Lab

Gene Symbol

Adra1a

Ensembl Gene

ENSMUSG00000045875

Gene Name

adrenergic receptor, alpha 1a

Synonyms

Adra1c

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

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

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66872700-67008617 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66875385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 120 (I120T)

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: I120T

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

SMART Domains

Protein: ENSMUSP00000053703
Gene: ENSMUSG00000045875
AA Change: I120T

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: I120T

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

SMART Domains

Protein: ENSMUSP00000124570
Gene: ENSMUSG00000045875
AA Change: I120T

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: I120T

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

SMART Domains

Protein: ENSMUSP00000124322
Gene: ENSMUSG00000045875
AA Change: I120T

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: I120T

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

SMART Domains

Protein: ENSMUSP00000125354
Gene: ENSMUSG00000045875
AA Change: I120T

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: I120T

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

Meta Mutation Damage Score

0.9160

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	C	T	13: 4,627,464 (GRCm39)	P186L	probably damaging	Het
Alpk2	T	C	18: 65,483,255 (GRCm39)	K251R	probably benign	Het
Ank2	T	C	3: 126,728,226 (GRCm39)	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacna2d4	T	C	6: 119,324,220 (GRCm39)		probably benign	Het
Carf	G	A	1: 60,180,643 (GRCm39)	R355H	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Celf6	G	T	9: 59,510,622 (GRCm39)	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,223,419 (GRCm39)	I475N	probably benign	Het
Chdh	T	A	14: 29,753,489 (GRCm39)	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,227,800 (GRCm39)	D478N	possibly damaging	Het
Ctnna3	C	A	10: 64,838,524 (GRCm39)	T867K	probably benign	Het
Ctse	T	G	1: 131,600,185 (GRCm39)	Y311*	probably null	Het
Ddx60	T	A	8: 62,411,097 (GRCm39)	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,750,325 (GRCm39)	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,594,499 (GRCm39)	S543P	probably benign	Het
Dspp	A	T	5: 104,323,567 (GRCm39)	T237S	probably benign	Het
Eml6	T	G	11: 29,800,935 (GRCm39)	H357P	probably benign	Het
Epha3	T	C	16: 63,664,507 (GRCm39)	I38V	possibly damaging	Het
Erap1	C	T	13: 74,794,806 (GRCm39)	T155I	probably damaging	Het
Erh	T	C	12: 80,689,559 (GRCm39)		probably benign	Het
F5	A	T	1: 164,034,603 (GRCm39)	K1834M	probably damaging	Het
Fyn	A	G	10: 39,405,541 (GRCm39)	E269G	probably benign	Het
Gm4884	A	G	7: 40,690,229 (GRCm39)	T42A	probably benign	Het
Grm1	T	G	10: 10,658,520 (GRCm39)	R323S	probably damaging	Het
Gstt4	T	C	10: 75,658,235 (GRCm39)	D8G	probably damaging	Het
Gvin-ps3	T	A	7: 105,682,758 (GRCm39)	M166L	probably benign	Het
Ldlr	A	G	9: 21,643,698 (GRCm39)	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,101,575 (GRCm39)		probably null	Het
Naip2	A	T	13: 100,289,100 (GRCm39)	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,257,130 (GRCm39)	R88G	probably benign	Het
Nlgn1	C	T	3: 25,487,925 (GRCm39)	M803I	probably damaging	Het
Or2r11	A	G	6: 42,437,950 (GRCm39)	M1T	probably null	Het
Or2y16	C	T	11: 49,334,786 (GRCm39)	S36F	probably benign	Het
Or6c88	T	A	10: 129,406,915 (GRCm39)	Y130*	probably null	Het
Or8g18	G	A	9: 39,149,048 (GRCm39)	T224I	possibly damaging	Het
Pip4k2a	A	T	2: 18,852,466 (GRCm39)	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,640,704 (GRCm39)	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497 (GRCm39)	G345R	possibly damaging	Het
Shc4	A	T	2: 125,481,266 (GRCm39)	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,691,001 (GRCm39)		probably benign	Het
Slc8a1	T	A	17: 81,715,685 (GRCm39)	K783*	probably null	Het
Sobp	A	C	10: 42,898,520 (GRCm39)	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,899,779 (GRCm39)	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,426,147 (GRCm39)	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,723,293 (GRCm39)	P251L	probably damaging	Het
Tnks	A	T	8: 35,315,803 (GRCm39)	D994E	probably benign	Het
Tnks	C	T	8: 35,340,221 (GRCm39)	D466N	probably benign	Het
Tonsl	A	G	15: 76,520,872 (GRCm39)	F394L	probably benign	Het
Trpa1	T	A	1: 14,980,970 (GRCm39)	Y144F	probably benign	Het
Usp22	A	G	11: 61,050,163 (GRCm39)	F324S	probably damaging	Het
Vmn1r78	G	T	7: 11,886,487 (GRCm39)	V33F	probably benign	Het
Wdr81	C	T	11: 75,336,907 (GRCm39)	R1494Q	probably benign	Het
Wdr87-ps	G	T	7: 29,226,697 (GRCm39)		noncoding transcript	Het
Zc3h14	G	A	12: 98,719,068 (GRCm39)	M144I	probably damaging	Het
Zc3h14	G	A	12: 98,719,069 (GRCm39)	V145M	possibly damaging	Het
Zfp82	T	C	7: 29,756,936 (GRCm39)	T49A	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
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'- TTAGTGATCCTCTCGGTGGC -3'
(R):5'- CCTCATTGATTTGGCAGATGG -3'

Sequencing Primer
(F):5'- GGTGACTCACTACTACATTGTCAAC -3'
(R):5'- ATGGTCTCATCCTCCGGAG -3'

Posted On

2014-10-02