Mutagenetix > Incidental Mutation

Incidental Mutation 'R1839:Ppp1r12b'

205563

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r12b

Ensembl Gene

ENSMUSG00000073557

Gene Name

protein phosphatase 1, regulatory (inhibitor) subunit 12B

Synonyms

9530009M10Rik, 1810037O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R1839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134754658-134955942 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134837981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 667 (R667G)

Ref Sequence

ENSEMBL: ENSMUSP00000047463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045665] [ENSMUST00000086444] [ENSMUST00000168381]

AlphaFold

Q8BG95

Predicted Effect

probably benign
Transcript: ENSMUST00000045665
AA Change: R667G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047463
Gene: ENSMUSG00000073557
AA Change: R667G

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
ANK	56	86	8.36e1	SMART
ANK	90	119	5.32e-5	SMART
ANK	123	152	1.08e-5	SMART
ANK	216	245	1.51e-4	SMART
ANK	249	278	3.85e-2	SMART
low complexity region	351	379	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	465	477	N/A	INTRINSIC
internal_repeat_3	539	576	2.45e-5	PROSPERO
PDB:2KJY\|A	608	663	3e-12	PDB
internal_repeat_3	729	766	2.45e-5	PROSPERO
low complexity region	790	800	N/A	INTRINSIC
low complexity region	840	864	N/A	INTRINSIC
coiled coil region	867	974	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086444
AA Change: R667G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000083633
Gene: ENSMUSG00000073557
AA Change: R667G

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
ANK	56	86	8.36e1	SMART
ANK	90	119	5.32e-5	SMART
ANK	123	152	1.08e-5	SMART
ANK	216	245	1.51e-4	SMART
ANK	249	278	3.85e-2	SMART
low complexity region	351	379	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	465	477	N/A	INTRINSIC
internal_repeat_3	539	576	1.9e-5	PROSPERO
PDB:2KJY\|A	608	663	3e-12	PDB
internal_repeat_3	729	766	1.9e-5	PROSPERO
low complexity region	790	800	N/A	INTRINSIC
low complexity region	840	864	N/A	INTRINSIC
Pfam:PRKG1_interact	875	982	4.6e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156348

Predicted Effect

probably benign
Transcript: ENSMUST00000168381
AA Change: R667G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131406
Gene: ENSMUSG00000073557
AA Change: R667G

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
ANK	56	86	8.36e1	SMART
ANK	90	119	5.32e-5	SMART
ANK	123	152	1.08e-5	SMART
ANK	216	245	1.51e-4	SMART
ANK	249	278	3.85e-2	SMART
low complexity region	351	379	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	465	477	N/A	INTRINSIC
internal_repeat_3	539	576	1.9e-5	PROSPERO
PDB:2KJY\|A	608	663	3e-12	PDB
internal_repeat_3	729	766	1.9e-5	PROSPERO
low complexity region	790	800	N/A	INTRINSIC
low complexity region	840	864	N/A	INTRINSIC
coiled coil region	867	986	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188123

Meta Mutation Damage Score

0.1001

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.7%
20x: 90.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,409,720	T403A	probably damaging	Het
Acat3	T	A	17: 12,928,606	R175*	probably null	Het
Adam1b	C	A	5: 121,501,041	C647F	probably damaging	Het
Adam28	T	C	14: 68,639,210	N197S	possibly damaging	Het
Adcy2	C	T	13: 68,689,261		probably null	Het
Adcy5	A	T	16: 35,248,940	N426I	probably damaging	Het
Adgre1	T	C	17: 57,441,299	S500P	probably benign	Het
Aloxe3	A	G	11: 69,130,085	Y212C	probably damaging	Het
Ap3d1	A	G	10: 80,727,108	S180P	probably damaging	Het
Arhgap20	C	T	9: 51,849,326	R790W	probably damaging	Het
Atp8b4	C	A	2: 126,361,782	A757S	possibly damaging	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Ccdc88b	A	G	19: 6,854,109		probably benign	Het
Ccnk	A	G	12: 108,195,074	T195A	probably damaging	Het
Cd55b	C	A	1: 130,414,105	C265F	probably damaging	Het
Celsr3	A	G	9: 108,829,906	H1196R	probably benign	Het
Cenpt	T	C	8: 105,849,014	S190G	possibly damaging	Het
Chd8	T	C	14: 52,204,883	S2077G	probably benign	Het
Col6a5	G	A	9: 105,864,833	H2296Y	probably benign	Het
Cxxc4	C	A	3: 134,240,653	H332N	probably damaging	Het
Cyp24a1	T	C	2: 170,496,741	I12V	probably benign	Het
Cyp3a57	T	A	5: 145,381,301	L364Q	probably damaging	Het
Ddi2	T	C	4: 141,713,526	I47V	probably benign	Het
Ddx5	A	T	11: 106,784,897	D322E	probably benign	Het
Dhx40	A	G	11: 86,789,297	C405R	possibly damaging	Het
Emc1	T	C	4: 139,360,485	F100S	probably damaging	Het
Exoc2	T	C	13: 30,906,497		probably benign	Het
Gm10110	A	T	14: 89,897,836		noncoding transcript	Het
Gm17332	T	C	11: 31,182,386	H26R	possibly damaging	Het
Gna12	T	C	5: 140,762,612	N183S	probably benign	Het
Gpx6	A	G	13: 21,312,327	N24D	probably benign	Het
Gsdma3	C	T	11: 98,629,858	A105V	probably benign	Het
Hsd3b5	T	C	3: 98,619,728	Y134C	probably benign	Het
Ifi213	T	C	1: 173,589,600	I415M	probably damaging	Het
Ints9	C	A	14: 65,016,530	P278T	probably damaging	Het
Krt79	C	T	15: 101,937,938	E192K	possibly damaging	Het
Lrrk2	A	G	15: 91,683,134	N132S	probably benign	Het
Ltn1	T	A	16: 87,416,264	K470*	probably null	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Mcm9	A	G	10: 53,541,553	M18T	probably damaging	Het
Med12l	A	G	3: 59,068,319	T212A	probably benign	Het
Mfhas1	T	C	8: 35,590,858	L829P	possibly damaging	Het
Mgme1	T	A	2: 144,279,487	C288S	probably benign	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myh7	T	C	14: 54,973,180	N1725S	possibly damaging	Het
Nat6	G	A	9: 107,583,017	R37H	possibly damaging	Het
Nme4	A	T	17: 26,092,097	W165R	probably damaging	Het
Nup205	T	A	6: 35,219,714	D1128E	probably benign	Het
Olfr291	T	C	7: 84,856,548	Y60H	probably damaging	Het
Olfr330	A	T	11: 58,529,373	Y204*	probably null	Het
Pcdh1	T	C	18: 38,199,485	D155G	possibly damaging	Het
Pex12	A	T	11: 83,297,822	S116T	probably damaging	Het
Plekhh1	C	T	12: 79,078,957		probably benign	Het
Plekhh3	A	G	11: 101,163,600		probably benign	Het
Pnpt1	T	C	11: 29,154,342	M572T	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rgs14	T	C	13: 55,382,838		probably benign	Het
Rhbdf2	A	T	11: 116,600,191	V645E	possibly damaging	Het
Robo3	A	G	9: 37,422,327	V696A	probably benign	Het
Sall1	A	G	8: 89,028,716	F1212L	possibly damaging	Het
Sdc4	T	C	2: 164,429,012	E109G	probably benign	Het
Serpind1	G	T	16: 17,342,992	R462L	probably damaging	Het
Smad9	CTTT	CTT	3: 54,789,179		probably benign	Het
Sstr4	C	A	2: 148,395,533	N21K	probably benign	Het
Tap1	C	T	17: 34,188,109	A77V	possibly damaging	Het
Thap4	T	C	1: 93,750,287	E259G	probably benign	Het
Thra	A	G	11: 98,756,143	N30S	probably benign	Het
Tmem207	A	T	16: 26,524,821	V27E	possibly damaging	Het
Top3a	A	G	11: 60,753,888	V305A	probably damaging	Het
Trim59	A	T	3: 69,037,638	I123K	probably damaging	Het
Ttn	T	C	2: 76,861,495		probably benign	Het
Ubac1	T	A	2: 26,007,738	E290V	possibly damaging	Het
Unc13b	T	C	4: 43,258,308		probably benign	Het
Uri1	A	T	7: 37,967,389	D206E	probably benign	Het
Utp4	A	G	8: 106,913,454	H465R	probably benign	Het
Uvssa	T	C	5: 33,389,752	S221P	probably benign	Het
Vmn1r39	T	C	6: 66,805,233		probably null	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Vps72	G	A	3: 95,119,218	R158Q	possibly damaging	Het
Wdr59	T	C	8: 111,485,340	D366G	probably benign	Het
Zfp366	C	A	13: 99,228,492	Q54K	probably damaging	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Ppp1r12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Ppp1r12b	APN	1	134892159	missense	probably damaging	1.00
IGL01788:Ppp1r12b	APN	1	134893507	missense	possibly damaging	0.66
IGL01880:Ppp1r12b	APN	1	134886421	critical splice donor site	probably null
IGL02109:Ppp1r12b	APN	1	134872805	critical splice donor site	probably null
IGL02247:Ppp1r12b	APN	1	134835983	missense	probably benign
IGL02336:Ppp1r12b	APN	1	134886506	missense	probably damaging	1.00
IGL02903:Ppp1r12b	APN	1	134955649	missense	probably benign
IGL02963:Ppp1r12b	APN	1	134886548	missense	probably damaging	1.00
IGL03074:Ppp1r12b	APN	1	134836020	missense	probably benign	0.01
IGL03302:Ppp1r12b	APN	1	134838050	splice site	probably benign
R0102:Ppp1r12b	UTSW	1	134835899	critical splice acceptor site	probably null
R0102:Ppp1r12b	UTSW	1	134835899	critical splice acceptor site	probably null
R0189:Ppp1r12b	UTSW	1	134865776	critical splice donor site	probably null
R0556:Ppp1r12b	UTSW	1	134777322	missense	probably damaging	1.00
R0594:Ppp1r12b	UTSW	1	134776479	missense	probably damaging	1.00
R0690:Ppp1r12b	UTSW	1	134876082	missense	probably damaging	1.00
R1354:Ppp1r12b	UTSW	1	134835983	missense	probably benign	0.42
R1676:Ppp1r12b	UTSW	1	134777452	missense	probably damaging	1.00
R1775:Ppp1r12b	UTSW	1	134893348	critical splice donor site	probably null
R1946:Ppp1r12b	UTSW	1	134892270	missense	probably damaging	1.00
R1971:Ppp1r12b	UTSW	1	134865913	missense	probably benign	0.00
R1997:Ppp1r12b	UTSW	1	134846355	intron	probably benign
R3110:Ppp1r12b	UTSW	1	134872832	missense	probably damaging	1.00
R3112:Ppp1r12b	UTSW	1	134872832	missense	probably damaging	1.00
R3908:Ppp1r12b	UTSW	1	134842732	missense	probably damaging	1.00
R3912:Ppp1r12b	UTSW	1	134887318	missense	probably damaging	1.00
R3977:Ppp1r12b	UTSW	1	134765975	missense	probably benign	0.00
R4243:Ppp1r12b	UTSW	1	134782108	intron	probably benign
R4835:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4836:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4843:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R4854:Ppp1r12b	UTSW	1	134873951	missense	probably damaging	1.00
R4870:Ppp1r12b	UTSW	1	134949033	missense	probably benign	0.00
R4881:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5024:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5054:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5055:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5056:Ppp1r12b	UTSW	1	134834392	intron	probably benign
R5056:Ppp1r12b	UTSW	1	134955733	missense	probably benign	0.21
R5158:Ppp1r12b	UTSW	1	134886428	missense	probably damaging	1.00
R5599:Ppp1r12b	UTSW	1	134865907	missense	probably benign	0.08
R5771:Ppp1r12b	UTSW	1	134773424	critical splice donor site	probably null
R5775:Ppp1r12b	UTSW	1	134876042	missense	probably benign
R5872:Ppp1r12b	UTSW	1	134776406	missense	probably benign	0.03
R5896:Ppp1r12b	UTSW	1	134765981	missense	probably damaging	1.00
R6060:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
R6129:Ppp1r12b	UTSW	1	134892252	nonsense	probably null
R6369:Ppp1r12b	UTSW	1	134886542	missense	possibly damaging	0.93
R6868:Ppp1r12b	UTSW	1	134886438	missense	probably benign	0.00
R7681:Ppp1r12b	UTSW	1	134865935	missense	probably benign	0.02
R7940:Ppp1r12b	UTSW	1	134876055	missense	probably benign	0.00
R8057:Ppp1r12b	UTSW	1	134955616	missense	probably damaging	1.00
R8070:Ppp1r12b	UTSW	1	134876069	missense	probably benign	0.06
R8134:Ppp1r12b	UTSW	1	134886542	missense	possibly damaging	0.93
R8147:Ppp1r12b	UTSW	1	134873942	missense	possibly damaging	0.78
R8224:Ppp1r12b	UTSW	1	134902462	missense	probably benign	0.19
R8270:Ppp1r12b	UTSW	1	134876148	missense	probably benign	0.37
R8304:Ppp1r12b	UTSW	1	134896363	missense	possibly damaging	0.65
R8803:Ppp1r12b	UTSW	1	134890754	critical splice donor site	probably benign
R8826:Ppp1r12b	UTSW	1	134765992	missense	probably benign	0.18
R8954:Ppp1r12b	UTSW	1	134834462	missense	probably benign	0.00
R9081:Ppp1r12b	UTSW	1	134777347	missense	probably benign	0.18
R9171:Ppp1r12b	UTSW	1	134873987	missense	probably benign	0.01
R9223:Ppp1r12b	UTSW	1	134879638	missense	probably benign	0.00
R9521:Ppp1r12b	UTSW	1	134777325	missense	probably damaging	1.00
R9609:Ppp1r12b	UTSW	1	134896346	nonsense	probably null
X0022:Ppp1r12b	UTSW	1	134835873	missense	probably benign	0.00
X0027:Ppp1r12b	UTSW	1	134896354	missense	probably damaging	1.00
Z1187:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
Z1189:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
Z1190:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02
Z1192:Ppp1r12b	UTSW	1	134955524	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTCACTTCAAGGCAGGATAGC -3'
(R):5'- ATGTGTTGCTAGAAATGGCCTG -3'

Sequencing Primer
(F):5'- GCAGGATAGCATTTAAGTCACC -3'
(R):5'- CTAGAAATGGCCTGTTGGGAG -3'

Posted On

2014-06-23