Mutagenetix > Incidental Mutation

Incidental Mutation 'R9761:Prkar1b'

733007

Institutional Source

Beutler Lab

Gene Symbol

Prkar1b

Ensembl Gene

ENSMUSG00000025855

Gene Name

protein kinase, cAMP dependent regulatory, type I beta

Synonyms

RIbeta

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R9761 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139003061-139135756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139092410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 136 (V136L)

Ref Sequence

ENSEMBL: ENSMUSP00000026973 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026973] [ENSMUST00000110889] [ENSMUST00000110890] [ENSMUST00000129851] [ENSMUST00000134762] [ENSMUST00000141985] [ENSMUST00000147505] [ENSMUST00000148002] [ENSMUST00000155833]

AlphaFold

P12849

Predicted Effect

probably benign
Transcript: ENSMUST00000026973
AA Change: V136L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026973
Gene: ENSMUSG00000025855
AA Change: V136L

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART
cNMP	137	253	1.07e-28	SMART
cNMP	255	374	3.95e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110889
AA Change: V12L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106514
Gene: ENSMUSG00000025855
AA Change: V12L

Domain	Start	End	E-Value	Type
cNMP	13	129	1.07e-28	SMART
cNMP	131	250	3.95e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110890
AA Change: V136L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106515
Gene: ENSMUSG00000025855
AA Change: V136L

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART
cNMP	137	253	1.07e-28	SMART
cNMP	255	374	3.95e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129851
AA Change: V136L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121093
Gene: ENSMUSG00000025855
AA Change: V136L

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART
cNMP	137	235	1.24e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134762

SMART Domains

Protein: ENSMUSP00000116022
Gene: ENSMUSG00000025855

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141985
AA Change: V12L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000147505

SMART Domains

Protein: ENSMUSP00000116727
Gene: ENSMUSG00000025855

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148002
AA Change: V136L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123286
Gene: ENSMUSG00000025855
AA Change: V136L

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART
cNMP	137	250	8.27e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155833

SMART Domains

Protein: ENSMUSP00000122693
Gene: ENSMUSG00000025855

Domain	Start	End	E-Value	Type
RIIa	25	62	3.14e-12	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice have reduced LTD and LTP in specific CNS tracts, but normal neuroanatomy and behavior. Response to pain after inflammation is reduced, concurrent with decreased plasma extravasation during the inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,544,854 (GRCm39)	T1411I	possibly damaging	Het
Ablim3	C	A	18: 61,952,885 (GRCm39)	R393L	possibly damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Ankrd35	C	T	3: 96,591,733 (GRCm39)	T673I	possibly damaging	Het
Atp11b	A	T	3: 35,903,607 (GRCm39)	K1114*	probably null	Het
Atp11b	C	T	3: 35,903,621 (GRCm39)	P947L	probably benign	Het
Atp11b	G	T	3: 35,903,616 (GRCm39)	D1117Y	probably damaging	Het
Cfap74	C	A	4: 155,550,844 (GRCm39)	H243Q	unknown	Het
Dgkh	A	T	14: 78,889,163 (GRCm39)	S111R	probably damaging	Het
Dpp6	G	A	5: 27,869,743 (GRCm39)	R505K	probably benign	Het
Elp4	C	T	2: 105,624,904 (GRCm39)	G330S	probably damaging	Het
Fsip2	A	T	2: 82,821,994 (GRCm39)	N5909I	probably benign	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gcn1	A	G	5: 115,729,064 (GRCm39)	M792V	probably benign	Het
Gpr152	T	C	19: 4,193,227 (GRCm39)	L256P	probably damaging	Het
Greb1	C	T	12: 16,751,275 (GRCm39)	M1006I	probably benign	Het
Gzf1	C	T	2: 148,530,011 (GRCm39)	S514L	probably damaging	Het
Helz	C	A	11: 107,560,874 (GRCm39)	S1312*	probably null	Het
Hmcn1	T	C	1: 150,868,625 (GRCm39)	I60V	probably damaging	Het
Ift81	A	C	5: 122,729,146 (GRCm39)	D395E	probably benign	Het
Itfg1	T	C	8: 86,563,031 (GRCm39)	N123S	probably benign	Het
Klk1b1	C	A	7: 43,618,739 (GRCm39)	H39N	possibly damaging	Het
Klk1b24	A	T	7: 43,839,779 (GRCm39)	N46I	possibly damaging	Het
Klrg2	C	A	6: 38,607,287 (GRCm39)	W241L	probably damaging	Het
Lhx9	T	C	1: 138,774,934 (GRCm39)	N3S	probably benign	Het
Lrrc2	A	G	9: 110,809,942 (GRCm39)	D326G	possibly damaging	Het
Mansc1	A	T	6: 134,587,004 (GRCm39)	L391Q	probably damaging	Het
Mcidas	G	A	13: 113,135,453 (GRCm39)	R292H	probably benign	Het
Ms4a19	T	C	19: 11,119,754 (GRCm39)	T59A	probably benign	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Or12d13	T	A	17: 37,648,057 (GRCm39)	Q22L	possibly damaging	Het
Or14j7	T	C	17: 38,234,934 (GRCm39)	F159S	probably benign	Het
Or4f53	C	A	2: 111,087,606 (GRCm39)	L49I	probably benign	Het
Or4f53	T	G	2: 111,087,607 (GRCm39)	L49R	possibly damaging	Het
Or8g26	T	C	9: 39,096,146 (GRCm39)	I221T	probably damaging	Het
Or8k20	C	T	2: 86,106,150 (GRCm39)	R227Q	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Poc1b	C	T	10: 98,965,356 (GRCm39)	S95F	probably benign	Het
Pprc1	A	G	19: 46,049,998 (GRCm39)	I104V	unknown	Het
Scn2a	A	G	2: 65,566,030 (GRCm39)	I1351M	probably damaging	Het
Serpina3c	G	T	12: 104,118,089 (GRCm39)	A83D	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,318,190 (GRCm39)		probably null	Het
Ticrr	A	G	7: 79,345,313 (GRCm39)	E1726G	probably damaging	Het
Tmprss12	T	C	15: 100,190,529 (GRCm39)	W300R	probably damaging	Het
Tnrc6c	T	A	11: 117,623,136 (GRCm39)	H892Q	probably benign	Het
Tnxb	A	G	17: 34,903,987 (GRCm39)	T1043A	probably benign	Het
Vps50	T	A	6: 3,519,218 (GRCm39)	V100D	probably damaging	Het
Zim1	G	C	7: 6,680,771 (GRCm39)	H297Q	probably damaging	Het

Other mutations in Prkar1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0470:Prkar1b	UTSW	5	139,036,504 (GRCm39)	missense	probably damaging	0.98
R0558:Prkar1b	UTSW	5	139,005,847 (GRCm39)	missense	probably benign	0.04
R1512:Prkar1b	UTSW	5	139,036,428 (GRCm39)	nonsense	probably null
R1982:Prkar1b	UTSW	5	139,113,398 (GRCm39)	missense	probably benign	0.06
R4231:Prkar1b	UTSW	5	139,094,376 (GRCm39)	missense	probably benign	0.00
R5326:Prkar1b	UTSW	5	139,113,544 (GRCm39)	splice site	probably null
R5350:Prkar1b	UTSW	5	139,092,383 (GRCm39)	missense	probably damaging	1.00
R5693:Prkar1b	UTSW	5	139,113,400 (GRCm39)	missense	possibly damaging	0.65
R7136:Prkar1b	UTSW	5	139,094,363 (GRCm39)	missense	probably benign	0.00
R8750:Prkar1b	UTSW	5	139,036,451 (GRCm39)	missense	probably damaging	1.00
R9382:Prkar1b	UTSW	5	139,036,442 (GRCm39)	missense	probably damaging	1.00
RF009:Prkar1b	UTSW	5	139,094,376 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGAGTACCTCCCAAACCAGG -3'
(R):5'- CTAGTACTATGAGGAGAGCAGGATA -3'

Sequencing Primer
(F):5'- ATCATGCCTCAGGTCGCATAG -3'
(R):5'- AGGATAGTGGCTCCAGGCTG -3'

Posted On

2022-11-14