Mutagenetix > Incidental Mutation

Incidental Mutation 'R4231:Prkar1b'

320840

Institutional Source

Beutler Lab

Gene Symbol

Prkar1b

Ensembl Gene

ENSMUSG00000025855

Gene Name

protein kinase, cAMP dependent regulatory, type I beta

Synonyms

RIbeta

MMRRC Submission

041050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139003061-139135756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139094376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

Ref Sequence

ENSEMBL: ENSMUSP00000116727 (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: S71P

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

SMART Domains

Protein: ENSMUSP00000026973
Gene: ENSMUSG00000025855
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000106514
Gene: ENSMUSG00000025855

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: S71P

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

SMART Domains

Protein: ENSMUSP00000106515
Gene: ENSMUSG00000025855
AA Change: S71P

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: S71P

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

SMART Domains

Protein: ENSMUSP00000121093
Gene: ENSMUSG00000025855
AA Change: S71P

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
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000116022
Gene: ENSMUSG00000025855
AA Change: S71P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141985

Predicted Effect

probably benign
Transcript: ENSMUST00000147505
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000116727
Gene: ENSMUSG00000025855
AA Change: S71P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148002
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000123286
Gene: ENSMUSG00000025855
AA Change: S71P

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
AA Change: S71P

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

SMART Domains

Protein: ENSMUSP00000122693
Gene: ENSMUSG00000025855
AA Change: S71P

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

Meta Mutation Damage Score

0.1898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	A	T	12: 53,187,821 (GRCm39)	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 25,095,636 (GRCm39)	G494R	probably damaging	Het
Ankar	T	C	1: 72,697,701 (GRCm39)	D1034G	probably benign	Het
Aox3	T	A	1: 58,154,044 (GRCm39)	N23K	probably benign	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Bltp1	C	T	3: 36,974,385 (GRCm39)	T663I	probably benign	Het
Cacnb2	A	G	2: 14,986,251 (GRCm39)	K343E	probably damaging	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cd93	A	T	2: 148,284,880 (GRCm39)	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,755,834 (GRCm39)	M1V	probably null	Het
Crat	T	C	2: 30,303,023 (GRCm39)	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,155,304 (GRCm39)	P94S	probably damaging	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Filip1l	T	C	16: 57,327,131 (GRCm39)	S54P	probably benign	Het
Gm12887	A	T	4: 121,479,299 (GRCm39)	M1K	probably null	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Insyn2b	A	T	11: 34,353,143 (GRCm39)	E395V	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Irak2	A	G	6: 113,667,817 (GRCm39)	E466G	probably damaging	Het
Irgm2	C	T	11: 58,110,304 (GRCm39)		probably benign	Het
Jak3	T	A	8: 72,138,189 (GRCm39)	V880D	probably damaging	Het
Jmy	G	T	13: 93,635,433 (GRCm39)	P128T	probably benign	Het
Kif20a	A	G	18: 34,765,091 (GRCm39)	N775S	probably benign	Het
Kremen1	G	A	11: 5,193,881 (GRCm39)	Q50*	probably null	Het
Lrrc71	A	G	3: 87,648,298 (GRCm39)	I438T	probably benign	Het
Map3k1	T	C	13: 111,905,028 (GRCm39)	T374A	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Mta1	T	C	12: 113,099,447 (GRCm39)	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,837,325 (GRCm39)	Q13L	probably benign	Het
Nbas	A	G	12: 13,443,344 (GRCm39)	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,767,660 (GRCm39)	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or13a20	T	C	7: 140,232,653 (GRCm39)	Y254H	probably damaging	Het
Or4f17-ps1	C	T	2: 111,358,546 (GRCm39)	R314C	probably damaging	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pam	A	G	1: 97,811,849 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,876,631 (GRCm39)	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,326,762 (GRCm39)	T232I	probably damaging	Het
Ptprq	A	T	10: 107,522,144 (GRCm39)	Y602*	probably null	Het
Rfx4	A	T	10: 84,650,558 (GRCm39)	M84L	probably benign	Het
Rfx7	A	T	9: 72,526,672 (GRCm39)	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf216	A	T	5: 143,078,845 (GRCm39)	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,541,097 (GRCm39)	V402A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sart3	A	G	5: 113,909,479 (GRCm39)	M73T	probably benign	Het
Scn10a	G	T	9: 119,460,610 (GRCm39)	T1088K	probably damaging	Het
Senp2	T	C	16: 21,830,304 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,450,151 (GRCm39)	N92D	probably benign	Het
Sipa1	A	T	19: 5,704,117 (GRCm39)	L735Q	probably damaging	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,988,820 (GRCm39)	S296T	probably benign	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,062,165 (GRCm39)	S806P	probably damaging	Het
Tgm3	A	T	2: 129,886,509 (GRCm39)	K577*	probably null	Het
Wscd2	A	G	5: 113,699,045 (GRCm39)	D200G	probably benign	Het
Xpo6	T	C	7: 125,773,354 (GRCm39)	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,310,991 (GRCm39)	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,161,041 (GRCm39)	K375*	probably null	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
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
R9761:Prkar1b	UTSW	5	139,092,410 (GRCm39)	missense	probably benign	0.00
RF009:Prkar1b	UTSW	5	139,094,376 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGGGTGAACACATGCTGG -3'
(R):5'- TCAGCAGTCTAACAGAACTATGG -3'

Sequencing Primer
(F):5'- GAACACATGCTGGGGCTCTTTAC -3'
(R):5'- ATTCTAGGCAGGGGCTCTACAAC -3'

Posted On

2015-06-12