Mutagenetix > Incidental Mutation

Incidental Mutation 'R7785:Ppp1r37'

599495

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r37

Ensembl Gene

ENSMUSG00000051403

Gene Name

protein phosphatase 1, regulatory subunit 37

Synonyms

Lrrc68

MMRRC Submission

045841-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R7785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19264725-19297001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19265996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 590 (V590E)

Ref Sequence

ENSEMBL: ENSMUSP00000060233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058444]

AlphaFold

Q8BKR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058444
AA Change: V590E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403
AA Change: V590E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,262,617 (GRCm39)	F70L	probably benign	Het
Abca8a	T	C	11: 109,965,032 (GRCm39)		probably null	Het
Adamts5	T	C	16: 85,659,892 (GRCm39)	D800G	probably damaging	Het
Afm	T	C	5: 90,698,032 (GRCm39)	V478A	possibly damaging	Het
Akap7	T	A	10: 25,096,559 (GRCm39)	K233M	probably damaging	Het
Apbb1	T	C	7: 105,216,630 (GRCm39)	N61S	probably benign	Het
Atp8b1	A	T	18: 64,689,921 (GRCm39)	S604T	probably damaging	Het
Bcl2l14	G	T	6: 134,409,223 (GRCm39)	V266F	possibly damaging	Het
Btnl2	T	A	17: 34,580,137 (GRCm39)	H223Q	probably benign	Het
Cap2	A	G	13: 46,789,224 (GRCm39)	E255G	probably benign	Het
Chd6	A	T	2: 160,812,095 (GRCm39)	F1366Y	possibly damaging	Het
Cryl1	A	T	14: 57,512,938 (GRCm39)	S310T	probably benign	Het
Cyp2c69	A	G	19: 39,839,610 (GRCm39)	C338R	probably damaging	Het
Dclre1c	C	T	2: 3,425,273 (GRCm39)	Q7*	probably null	Het
Dhcr7	A	G	7: 143,399,209 (GRCm39)	E193G	probably damaging	Het
Dnaaf10	T	A	11: 17,179,785 (GRCm39)	V262E	probably damaging	Het
Dnmt1	T	C	9: 20,833,345 (GRCm39)	K652E	probably damaging	Het
Emilin3	A	T	2: 160,752,694 (GRCm39)	C85*	probably null	Het
Erp44	G	A	4: 48,243,531 (GRCm39)	P26S	probably benign	Het
Fxr1	A	G	3: 34,100,403 (GRCm39)	I121V		Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gpc5	A	G	14: 115,654,632 (GRCm39)	N484S	probably benign	Het
Grm8	A	G	6: 27,618,636 (GRCm39)	V402A	probably damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Iqgap1	A	G	7: 80,387,917 (GRCm39)	L910P	probably damaging	Het
Klra2	A	T	6: 131,222,253 (GRCm39)	F13I	possibly damaging	Het
Lmtk2	T	C	5: 144,111,571 (GRCm39)	S764P	probably benign	Het
Ndufs1	T	C	1: 63,186,558 (GRCm39)	D637G	probably damaging	Het
Nnmt	G	A	9: 48,503,309 (GRCm39)	S239F	probably benign	Het
Pdcd11	A	G	19: 47,093,125 (GRCm39)	I468V	probably benign	Het
Pkhd1l1	T	C	15: 44,406,965 (GRCm39)	W2401R	probably damaging	Het
Plec	C	A	15: 76,090,029 (GRCm39)	V104F	unknown	Het
Polq	A	G	16: 36,848,239 (GRCm39)	Y282C	probably damaging	Het
Prr27	T	C	5: 87,991,131 (GRCm39)	S248P	probably benign	Het
Ros1	T	C	10: 52,038,944 (GRCm39)	E351G	probably damaging	Het
Scn11a	T	C	9: 119,645,622 (GRCm39)	I111V	probably benign	Het
Slc35a1	A	G	4: 34,675,148 (GRCm39)	L130S	probably damaging	Het
Slc39a12	T	C	2: 14,425,029 (GRCm39)	L420P	probably damaging	Het
Sp140	T	A	1: 85,547,819 (GRCm39)	I182K	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Trpv3	C	A	11: 73,168,558 (GRCm39)	H42N	probably benign	Het
Zan	A	G	5: 137,427,405 (GRCm39)	S2411P	unknown	Het

Other mutations in Ppp1r37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0313:Ppp1r37	UTSW	7	19,267,923 (GRCm39)	missense	probably damaging	1.00
R0718:Ppp1r37	UTSW	7	19,266,179 (GRCm39)	missense	probably benign
R0883:Ppp1r37	UTSW	7	19,266,102 (GRCm39)	missense	probably benign	0.01
R1606:Ppp1r37	UTSW	7	19,268,924 (GRCm39)	missense	probably damaging	0.97
R2220:Ppp1r37	UTSW	7	19,266,371 (GRCm39)	missense	probably null	0.43
R2256:Ppp1r37	UTSW	7	19,295,943 (GRCm39)	unclassified	probably benign
R2257:Ppp1r37	UTSW	7	19,295,943 (GRCm39)	unclassified	probably benign
R2325:Ppp1r37	UTSW	7	19,266,609 (GRCm39)	missense	probably damaging	1.00
R2510:Ppp1r37	UTSW	7	19,266,357 (GRCm39)	missense	possibly damaging	0.79
R3401:Ppp1r37	UTSW	7	19,266,712 (GRCm39)	missense	probably damaging	0.99
R3402:Ppp1r37	UTSW	7	19,266,712 (GRCm39)	missense	probably damaging	0.99
R4006:Ppp1r37	UTSW	7	19,268,994 (GRCm39)	missense	probably damaging	1.00
R4750:Ppp1r37	UTSW	7	19,265,445 (GRCm39)	missense	probably benign
R4956:Ppp1r37	UTSW	7	19,266,636 (GRCm39)	nonsense	probably null
R5156:Ppp1r37	UTSW	7	19,295,900 (GRCm39)	unclassified	probably benign
R5582:Ppp1r37	UTSW	7	19,266,219 (GRCm39)	missense	probably damaging	1.00
R5659:Ppp1r37	UTSW	7	19,269,448 (GRCm39)	missense	probably damaging	1.00
R5918:Ppp1r37	UTSW	7	19,266,036 (GRCm39)	missense	probably benign	0.02
R6172:Ppp1r37	UTSW	7	19,266,329 (GRCm39)	missense	possibly damaging	0.93
R6659:Ppp1r37	UTSW	7	19,266,048 (GRCm39)	missense	probably benign	0.00
R7626:Ppp1r37	UTSW	7	19,295,778 (GRCm39)	missense	probably damaging	0.99
R7779:Ppp1r37	UTSW	7	19,266,712 (GRCm39)	missense	possibly damaging	0.81
R7819:Ppp1r37	UTSW	7	19,267,989 (GRCm39)	missense	probably damaging	1.00
R7965:Ppp1r37	UTSW	7	19,265,868 (GRCm39)	missense	probably damaging	0.99
R8185:Ppp1r37	UTSW	7	19,266,873 (GRCm39)	missense	probably damaging	1.00
R9125:Ppp1r37	UTSW	7	19,269,014 (GRCm39)	missense	probably benign	0.12
R9224:Ppp1r37	UTSW	7	19,265,729 (GRCm39)	missense	probably damaging	0.98
R9417:Ppp1r37	UTSW	7	19,269,658 (GRCm39)	missense	probably damaging	0.98
R9453:Ppp1r37	UTSW	7	19,295,796 (GRCm39)	missense	probably damaging	0.99
R9777:Ppp1r37	UTSW	7	19,295,783 (GRCm39)	missense	probably benign	0.23
Z1177:Ppp1r37	UTSW	7	19,268,997 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGCAAACTCAGGCTTCAG -3'
(R):5'- CTCCATGCCTGAGATCACCATC -3'

Sequencing Primer
(F):5'- CCATTGGGCAGTGGCTG -3'
(R):5'- TCAGACTCAGACTCTGACAGGG -3'

Posted On

2019-11-26