Mutagenetix > Incidental Mutation

Incidental Mutation 'R5211:Pm20d1'

403118

Institutional Source

Beutler Lab

Gene Symbol

Pm20d1

Ensembl Gene

ENSMUSG00000042251

Gene Name

peptidase M20 domain containing 1

Synonyms

4732466D17Rik

MMRRC Submission

042785-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131725122-131749210 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131734647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 353 (I353N)

Ref Sequence

ENSEMBL: ENSMUSP00000108012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048660] [ENSMUST00000112393]

AlphaFold

Q8C165

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048660
AA Change: I353N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046079
Gene: ENSMUSG00000042251
AA Change: I353N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Peptidase_M20	121	489	3.5e-34	PFAM
Pfam:M20_dimer	240	389	5.7e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112393
AA Change: I353N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108012
Gene: ENSMUSG00000042251
AA Change: I353N

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Peptidase_M20	121	489	7e-33	PFAM
Pfam:M20_dimer	240	389	5.7e-16	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	G	14: 70,394,233 (GRCm39)	S181P	probably benign	Het
Adgrf5	A	T	17: 43,733,511 (GRCm39)	T112S	probably benign	Het
Ascc2	T	C	11: 4,623,399 (GRCm39)	V545A	possibly damaging	Het
Bmp2	A	T	2: 133,396,550 (GRCm39)	S69C	probably damaging	Het
Btaf1	T	A	19: 36,973,962 (GRCm39)	I1378K	probably benign	Het
Ces2b	C	T	8: 105,561,695 (GRCm39)	T263I	possibly damaging	Het
Cntn5	A	T	9: 9,704,894 (GRCm39)	V635D	possibly damaging	Het
Dock6	T	C	9: 21,731,648 (GRCm39)	E1218G	probably benign	Het
Eml6	T	C	11: 29,804,145 (GRCm39)	I319V	probably benign	Het
Esd	T	C	14: 74,978,632 (GRCm39)	S65P	probably damaging	Het
Exoc1l	C	A	5: 76,664,250 (GRCm39)	T113K	possibly damaging	Het
Fstl3	A	T	10: 79,616,012 (GRCm39)	Q166L	probably benign	Het
Garin1a	A	T	6: 29,286,098 (GRCm39)	K128*	probably null	Het
Gcn1	T	A	5: 115,757,371 (GRCm39)	S2445T	probably benign	Het
Gfy	C	A	7: 44,827,282 (GRCm39)	L271F	possibly damaging	Het
Gjc2	A	G	11: 59,068,284 (GRCm39)	V66A	possibly damaging	Het
H3c4	G	T	13: 23,760,015 (GRCm39)	G14C	possibly damaging	Het
Itm2c	T	A	1: 85,834,249 (GRCm39)	V188E	probably damaging	Het
Jmjd1c	C	G	10: 67,067,795 (GRCm39)	S1766C	probably damaging	Het
Kcnn3	A	G	3: 89,428,538 (GRCm39)	T255A	probably benign	Het
Kdm4d	A	C	9: 14,374,400 (GRCm39)	V486G	probably benign	Het
Krt18	T	G	15: 101,939,888 (GRCm39)	I362S	probably damaging	Het
Lrrc8d	G	A	5: 105,961,606 (GRCm39)	R672Q	probably damaging	Het
Ly6f	G	A	15: 75,143,652 (GRCm39)	V120M	probably damaging	Het
Map3k4	A	G	17: 12,451,321 (GRCm39)	V1524A	possibly damaging	Het
Mrgprh	T	C	17: 13,095,889 (GRCm39)	V43A	probably benign	Het
Mx2	A	T	16: 97,348,633 (GRCm39)	M269L	probably damaging	Het
Myrfl	C	T	10: 116,634,535 (GRCm39)	V620I	probably benign	Het
Nlrp9b	G	A	7: 19,783,381 (GRCm39)	C908Y	probably damaging	Het
Nyap2	T	A	1: 81,064,991 (GRCm39)	M1K	probably null	Het
Olfml3	A	T	3: 103,644,515 (GRCm39)	H51Q	probably benign	Het
Or11h6	C	T	14: 50,880,710 (GRCm39)	T324I	possibly damaging	Het
Pcdhb1	G	A	18: 37,399,704 (GRCm39)	V552I	probably benign	Het
Sbk2	A	G	7: 4,965,966 (GRCm39)	F73L	possibly damaging	Het
Scn10a	A	C	9: 119,490,298 (GRCm39)	L548R	possibly damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slmap	T	C	14: 26,204,117 (GRCm39)	Y68C	probably damaging	Het
Syde2	T	C	3: 145,707,093 (GRCm39)	V611A	probably benign	Het
Sympk	A	G	7: 18,769,814 (GRCm39)	M164V	probably benign	Het
Syt17	T	C	7: 118,041,626 (GRCm39)	S43G	probably benign	Het
Ubr1	T	C	2: 120,723,651 (GRCm39)	T1303A	possibly damaging	Het
Vmn2r100	A	G	17: 19,746,257 (GRCm39)	Y535C	possibly damaging	Het

Other mutations in Pm20d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Pm20d1	APN	1	131,741,738 (GRCm39)	splice site	probably benign
IGL02026:Pm20d1	APN	1	131,729,497 (GRCm39)	nonsense	probably null
IGL02684:Pm20d1	APN	1	131,732,697 (GRCm39)	missense	probably benign	0.01
R1725:Pm20d1	UTSW	1	131,743,796 (GRCm39)	missense	probably damaging	1.00
R1808:Pm20d1	UTSW	1	131,730,165 (GRCm39)	missense	probably benign	0.02
R2010:Pm20d1	UTSW	1	131,739,852 (GRCm39)	missense	probably benign	0.02
R4663:Pm20d1	UTSW	1	131,726,340 (GRCm39)	missense	probably damaging	1.00
R4790:Pm20d1	UTSW	1	131,739,777 (GRCm39)	missense	probably benign	0.08
R5578:Pm20d1	UTSW	1	131,743,760 (GRCm39)	missense	probably benign	0.01
R6314:Pm20d1	UTSW	1	131,743,754 (GRCm39)	missense	possibly damaging	0.82
R6410:Pm20d1	UTSW	1	131,726,334 (GRCm39)	missense	probably benign	0.30
R6880:Pm20d1	UTSW	1	131,731,839 (GRCm39)	missense	probably benign	0.00
R7128:Pm20d1	UTSW	1	131,725,292 (GRCm39)	missense	probably benign	0.01
R8088:Pm20d1	UTSW	1	131,729,501 (GRCm39)	missense	probably benign	0.37
R8922:Pm20d1	UTSW	1	131,728,853 (GRCm39)	missense	possibly damaging	0.94
R8942:Pm20d1	UTSW	1	131,739,785 (GRCm39)	missense	possibly damaging	0.93
R9026:Pm20d1	UTSW	1	131,739,822 (GRCm39)	missense	probably benign	0.04
R9093:Pm20d1	UTSW	1	131,743,753 (GRCm39)	missense	probably benign	0.16
R9094:Pm20d1	UTSW	1	131,730,481 (GRCm39)	missense	possibly damaging	0.69
R9165:Pm20d1	UTSW	1	131,743,825 (GRCm39)	missense	possibly damaging	0.64
R9189:Pm20d1	UTSW	1	131,730,115 (GRCm39)	missense	probably damaging	1.00
R9562:Pm20d1	UTSW	1	131,730,501 (GRCm39)	missense	probably damaging	0.99
Z1176:Pm20d1	UTSW	1	131,725,296 (GRCm39)	missense	possibly damaging	0.89
Z1177:Pm20d1	UTSW	1	131,729,006 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TGCAGGACCGTTAAGTACAAAG -3'
(R):5'- CCCATCCTATGTAGTTGGTGC -3'

Sequencing Primer
(F):5'- GCAGGACCGTTAAGTACAAAGATCTC -3'
(R):5'- GGTGCATAGGGATTTTTCAAACCC -3'

Posted On

2016-07-22