Mutagenetix > Incidental Mutations

Incidental Mutation 'R3053:Psg18'

265032

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

040562-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3053 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18349193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 225 (G225R)

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003597] [ENSMUST00000098783]

AlphaFold

B2RSG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000003597
AA Change: G346R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: G346R

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
IG	40	140	2.11e-2	SMART
IG	161	262	1.03e0	SMART
IG	281	380	2.15e-3	SMART
IGc2	398	462	1.58e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000098783
AA Change: G225R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: G225R

Domain	Start	End	E-Value	Type
IG	40	141	1.03e0	SMART
IG	160	259	2.15e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183222

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,303,716	L1255P	probably damaging	Het
Agl	T	A	3: 116,791,033	I213F	probably damaging	Het
Arap2	A	G	5: 62,748,857	V273A	probably benign	Het
Asb18	T	A	1: 89,992,985	H149L	probably damaging	Het
Axdnd1	T	C	1: 156,341,870	T809A	probably damaging	Het
Bcl11b	T	C	12: 107,916,001	E613G	probably benign	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Cyp2a5	A	G	7: 26,842,985	I471V	possibly damaging	Het
Dmtf1	G	T	5: 9,129,316	T206K	probably damaging	Het
Dner	G	T	1: 84,384,026	Q621K	probably damaging	Het
Fam92a	G	C	4: 12,157,767		probably null	Het
Gmppa	A	G	1: 75,441,756	Y261C	probably benign	Het
Lama5	C	T	2: 180,183,067	R2519K	probably damaging	Het
Mical2	G	T	7: 112,311,423	A267S	probably damaging	Het
Nrxn3	A	T	12: 89,255,101	D550V	probably damaging	Het
Olfr351	T	A	2: 36,859,947	M134L	probably benign	Het
Pole	A	T	5: 110,289,795	D73V	probably damaging	Het
Ppm1b	G	A	17: 85,013,846	R472K	probably benign	Het
Ppm1m	A	G	9: 106,198,675	I18T	probably benign	Het
R3hcc1l	T	G	19: 42,562,625	Y20*	probably null	Het
Rapgef1	T	C	2: 29,724,856	I817T	probably damaging	Het
Rasal3	T	C	17: 32,403,439	E4G	probably benign	Het
Ryr1	A	T	7: 29,053,090	V3598E	probably damaging	Het
Slc15a4	A	T	5: 127,596,682	V556E	possibly damaging	Het
Spats2l	A	G	1: 57,900,766	K193R	probably damaging	Het
Tacc2	G	A	7: 130,625,496	E1323K	possibly damaging	Het
Tbc1d21	T	A	9: 58,363,069	D141V	probably damaging	Het
Tedc1	G	T	12: 113,156,467		probably benign	Het
Terf2	A	C	8: 107,079,384	L312R	possibly damaging	Het
Tmem132d	A	C	5: 127,792,474	S599A	probably benign	Het
Trp53bp2	T	C	1: 182,453,782	F983L	probably damaging	Het
Ubxn2a	T	A	12: 4,891,322	K95*	probably null	Het
Ugt2a2	A	T	5: 87,474,469	N213K	probably damaging	Het
Xpo6	T	C	7: 126,104,721	N1086D	probably damaging	Het
Zbed5	A	T	5: 129,902,146	H312L	possibly damaging	Het
Zfp729b	A	G	13: 67,593,466	Y227H	probably damaging	Het

Other mutations in Psg18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Psg18	APN	7	18354816	start codon destroyed	probably null	0.99
IGL01748:Psg18	APN	7	18353551	missense	probably benign	0.05
IGL01767:Psg18	APN	7	18353397	missense	possibly damaging	0.80
IGL02727:Psg18	APN	7	18345950	missense	probably damaging	1.00
IGL02744:Psg18	APN	7	18349402	missense	probably benign	0.38
G1Funyon:Psg18	UTSW	7	18353377	missense	probably damaging	0.99
PIT4466001:Psg18	UTSW	7	18349316	missense	probably benign	0.30
R0331:Psg18	UTSW	7	18353308	missense	probably benign	0.03
R1077:Psg18	UTSW	7	18351075	missense	possibly damaging	0.84
R1171:Psg18	UTSW	7	18346079	missense	probably benign	0.10
R1173:Psg18	UTSW	7	18354817	start codon destroyed	probably null	0.97
R1234:Psg18	UTSW	7	18349190	missense	probably damaging	1.00
R1553:Psg18	UTSW	7	18353481	missense	probably benign	0.19
R1632:Psg18	UTSW	7	18350899	missense	probably benign	0.02
R2108:Psg18	UTSW	7	18350874	missense	probably damaging	1.00
R2439:Psg18	UTSW	7	18346119	missense	probably benign	0.24
R3032:Psg18	UTSW	7	18350979	missense	probably benign	0.01
R3432:Psg18	UTSW	7	18349171	missense	possibly damaging	0.61
R3725:Psg18	UTSW	7	18354823	start gained	probably benign
R4479:Psg18	UTSW	7	18350862	missense	probably benign	0.01
R4480:Psg18	UTSW	7	18350862	missense	probably benign	0.01
R4846:Psg18	UTSW	7	18350786	nonsense	probably null
R4858:Psg18	UTSW	7	18353484	missense	possibly damaging	0.49
R5010:Psg18	UTSW	7	18349354	missense	probably damaging	1.00
R5225:Psg18	UTSW	7	18345949	missense	probably damaging	1.00
R5450:Psg18	UTSW	7	18353425	missense	probably benign	0.32
R5526:Psg18	UTSW	7	18349348	missense	probably damaging	1.00
R5840:Psg18	UTSW	7	18346602	intron	probably benign
R6409:Psg18	UTSW	7	18353521	missense	probably benign
R7164:Psg18	UTSW	7	18350937	missense	possibly damaging	0.89
R7276:Psg18	UTSW	7	18345984	missense	probably damaging	0.99
R7768:Psg18	UTSW	7	18346028	missense	probably damaging	1.00
R8301:Psg18	UTSW	7	18353377	missense	probably damaging	0.99
R8700:Psg18	UTSW	7	18353625	missense	probably damaging	1.00
R8982:Psg18	UTSW	7	18349375	missense	probably benign	0.20
R9042:Psg18	UTSW	7	18349122	missense	probably benign	0.44
R9054:Psg18	UTSW	7	18353525	missense	possibly damaging	0.82
Z1176:Psg18	UTSW	7	18354787	missense	probably benign	0.07
Z1177:Psg18	UTSW	7	18349115	missense	probably benign	0.30
Z1177:Psg18	UTSW	7	18349198	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TTGGTACAGCCCATGTGTGC -3'
(R):5'- GGAAGTGTTCTTCTCCAGGTCC -3'

Sequencing Primer
(F):5'- GTGCCCAAATACCAATGTGATG -3'
(R):5'- GTCCATAATCTGCCAGAAGATGTGC -3'

Posted On

2015-02-05