Mutagenetix > Incidental Mutations

Incidental Mutation 'R5156:Ppp1r37'

396729

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r37

Ensembl Gene

ENSMUSG00000051403

Gene Name

protein phosphatase 1, regulatory subunit 37

Synonyms

Lrrc68

MMRRC Submission

042738-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5156 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

19530800-19563076 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 19561975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051364] [ENSMUST00000058444] [ENSMUST00000117222] [ENSMUST00000119912] [ENSMUST00000122055] [ENSMUST00000122127] [ENSMUST00000151646] [ENSMUST00000208826]

AlphaFold

Q8BKR5

Predicted Effect

probably benign
Transcript: ENSMUST00000051364

SMART Domains

Protein: ENSMUSP00000055844
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000058444
AA Change: D19G

SMART Domains

Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403
AA Change: D19G

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
Blast:LRR	139	166	1e-9	BLAST
LRR	224	251	1.77e2	SMART
LRR	252	280	3.52e-1	SMART
LRR	281	308	8.27e-7	SMART
LRR	310	337	3.05e1	SMART
LRR	338	365	1.4e-4	SMART
LRR	366	393	1.56e-2	SMART
LRR	394	421	2.36e-2	SMART
low complexity region	504	540	N/A	INTRINSIC
low complexity region	566	574	N/A	INTRINSIC
low complexity region	596	628	N/A	INTRINSIC
low complexity region	660	679	N/A	INTRINSIC
low complexity region	696	702	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117222

SMART Domains

Protein: ENSMUSP00000113266
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119912

SMART Domains

Protein: ENSMUSP00000112742
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122055

SMART Domains

Protein: ENSMUSP00000113583
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122127

SMART Domains

Protein: ENSMUSP00000113709
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	129	1.9e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151646

SMART Domains

Protein: ENSMUSP00000116207
Gene: ENSMUSG00000044709

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
Pfam:Gemin7	50	81	7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208826

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,593,424		probably null	Het
4921513D11Rik	G	T	17: 79,628,209		probably benign	Het
Apeh	C	T	9: 108,094,287	A29T	probably damaging	Het
Arap2	A	T	5: 62,669,181	Y1013*	probably null	Het
Arhgef4	A	G	1: 34,723,274	E537G	unknown	Het
Asf1b	T	C	8: 83,955,911	F28S	probably damaging	Het
Cd46	T	A	1: 195,085,385	I123L	possibly damaging	Het
Cdca7	A	T	2: 72,479,026	T48S	probably damaging	Het
Cfap53	T	A	18: 74,359,767		probably benign	Het
Clca3a2	T	A	3: 144,805,838	T599S	probably benign	Het
Csf1	T	A	3: 107,748,936	T148S	probably benign	Het
Dmbt1	T	C	7: 131,097,670		probably null	Het
Dmpk	A	G	7: 19,084,125	D44G	probably damaging	Het
Dnajb12	T	A	10: 59,892,960	N223K	probably damaging	Het
Dync1h1	T	A	12: 110,628,830	M1392K	probably benign	Het
Edrf1	C	T	7: 133,660,179	A867V	probably damaging	Het
Efemp2	T	A	19: 5,477,678	C94S	possibly damaging	Het
Epha8	C	T	4: 136,938,726	S373N	probably benign	Het
Foxk1	A	G	5: 142,448,833	D284G	possibly damaging	Het
Fzd10	C	A	5: 128,601,302	R29S	possibly damaging	Het
Gm13991	T	C	2: 116,528,184		noncoding transcript	Het
Gm6818	A	T	7: 38,402,047		noncoding transcript	Het
Hydin	T	A	8: 110,609,701	C5037S	probably benign	Het
Ikzf1	T	A	11: 11,769,448	M492K	probably damaging	Het
Krt20	G	T	11: 99,430,053	S394R	possibly damaging	Het
Lrrc71	T	A	3: 87,745,787	R107S	probably benign	Het
Mia2	A	G	12: 59,172,537	T436A	possibly damaging	Het
Muc19	T	A	15: 91,900,420		noncoding transcript	Het
Neu4	T	C	1: 94,024,455	V182A	probably damaging	Het
Notch2	T	G	3: 98,124,310	F1167V	possibly damaging	Het
Nrap	A	G	19: 56,371,845	M189T	possibly damaging	Het
Nt5m	A	T	11: 59,874,661	I172F	probably damaging	Het
Olfr1138	G	A	2: 87,737,775	P183L	possibly damaging	Het
Olfr1474	G	T	19: 13,471,673	K234N	probably damaging	Het
Olfr228	A	T	2: 86,483,018	C241*	probably null	Het
Plekha5	C	T	6: 140,426,528	T68M	probably damaging	Het
Ppef2	A	G	5: 92,244,602		probably null	Het
Rfx4	T	C	10: 84,868,354	Y238H	probably damaging	Het
Sec13	G	A	6: 113,730,876	A161V	probably benign	Het
Serhl	G	A	15: 83,102,694		probably benign	Het
Slco4a1	T	C	2: 180,472,779	V588A	probably benign	Het
Slitrk3	T	C	3: 73,049,259	T727A	probably benign	Het
Sp100	T	A	1: 85,673,683	D241E	probably damaging	Het
Spata2	G	T	2: 167,483,574	H442N	probably damaging	Het
Speg	T	C	1: 75,428,087	V2588A	probably damaging	Het
Tnfsf12	A	G	11: 69,687,329	S141P	probably damaging	Het
Trank1	A	G	9: 111,390,694	I2166M	probably damaging	Het
Trim10	T	A	17: 36,877,056	V388E	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Vmn2r10	A	G	5: 108,995,600	V828A	probably benign	Het
Vmn2r75	T	A	7: 86,164,228	L455F	possibly damaging	Het
Vwa8	T	A	14: 78,984,226	S541T	probably benign	Het

Other mutations in Ppp1r37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0313:Ppp1r37	UTSW	7	19533998	missense	probably damaging	1.00
R0718:Ppp1r37	UTSW	7	19532254	missense	probably benign
R0883:Ppp1r37	UTSW	7	19532177	missense	probably benign	0.01
R1606:Ppp1r37	UTSW	7	19534999	missense	probably damaging	0.97
R2220:Ppp1r37	UTSW	7	19532446	missense	probably null	0.43
R2256:Ppp1r37	UTSW	7	19562018	unclassified	probably benign
R2257:Ppp1r37	UTSW	7	19562018	unclassified	probably benign
R2325:Ppp1r37	UTSW	7	19532684	missense	probably damaging	1.00
R2510:Ppp1r37	UTSW	7	19532432	missense	possibly damaging	0.79
R3401:Ppp1r37	UTSW	7	19532787	missense	probably damaging	0.99
R3402:Ppp1r37	UTSW	7	19532787	missense	probably damaging	0.99
R4006:Ppp1r37	UTSW	7	19535069	missense	probably damaging	1.00
R4750:Ppp1r37	UTSW	7	19531520	missense	probably benign
R4956:Ppp1r37	UTSW	7	19532711	nonsense	probably null
R5582:Ppp1r37	UTSW	7	19532294	missense	probably damaging	1.00
R5659:Ppp1r37	UTSW	7	19535523	missense	probably damaging	1.00
R5918:Ppp1r37	UTSW	7	19532111	missense	probably benign	0.02
R6172:Ppp1r37	UTSW	7	19532404	missense	possibly damaging	0.93
R6659:Ppp1r37	UTSW	7	19532123	missense	probably benign	0.00
R7626:Ppp1r37	UTSW	7	19561853	missense	probably damaging	0.99
R7779:Ppp1r37	UTSW	7	19532787	missense	possibly damaging	0.81
R7785:Ppp1r37	UTSW	7	19532071	missense	probably damaging	1.00
R7819:Ppp1r37	UTSW	7	19534064	missense	probably damaging	1.00
R7965:Ppp1r37	UTSW	7	19531943	missense	probably damaging	0.99
R8185:Ppp1r37	UTSW	7	19532948	missense	probably damaging	1.00
R9125:Ppp1r37	UTSW	7	19535089	missense	probably benign	0.12
R9224:Ppp1r37	UTSW	7	19531804	missense	probably damaging	0.98
R9417:Ppp1r37	UTSW	7	19535733	missense	probably damaging	0.98
Z1177:Ppp1r37	UTSW	7	19535072	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAAGCTACCGTGTCTCCAG -3'
(R):5'- AAGCTTGAGTCGGTGCTATGC -3'

Sequencing Primer
(F):5'- AGGGGTCTTTGGGCTCCAC -3'
(R):5'- CCTTCGGCTTGTAGCGAAAG -3'

Posted On

2016-06-21