Mutagenetix > Incidental Mutations

Incidental Mutation 'R3432:Psg18'

266236

Institutional Source

Beutler Lab

Gene Symbol

Psg18

Ensembl Gene

ENSMUSG00000003505

Gene Name

pregnancy specific glycoprotein 18

Synonyms

Cea-3, Cea3, mmCGM6

MMRRC Submission

040650-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R3432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18345422-18355009 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18349171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 232 (V232A)

Ref Sequence

ENSEMBL: ENSMUSP00000096380 (fasta)

Gene Model

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

AlphaFold

B2RSG7

Predicted Effect

probably benign
Transcript: ENSMUST00000003597
AA Change: V353A

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003597
Gene: ENSMUSG00000003505
AA Change: V353A

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

possibly damaging
Transcript: ENSMUST00000098783
AA Change: V232A

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096380
Gene: ENSMUSG00000003505
AA Change: V232A

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

0.3551

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	G	A	1: 125,394,039	P405S	probably damaging	Het
Adamts3	A	G	5: 89,707,453		probably benign	Het
Angptl2	T	C	2: 33,228,802	V196A	probably benign	Het
Aoc1	A	T	6: 48,905,844	H240L	probably damaging	Het
Arsj	A	T	3: 126,364,975	T68S	probably benign	Het
Atp8b3	T	C	10: 80,526,180	K708E	probably benign	Het
Bahd1	G	A	2: 118,922,523	R757H	probably damaging	Het
Ceacam5	T	A	7: 17,714,976	V89E	probably benign	Het
Cpt1b	T	C	15: 89,423,741	E205G	possibly damaging	Het
Dhrs7c	C	T	11: 67,809,873	T82I	probably benign	Het
Efs	C	T	14: 54,920,224	R117Q	probably damaging	Het
Evl	T	C	12: 108,648,308		probably benign	Het
Fam89b	A	T	19: 5,731,733		probably null	Het
Fbxo16	T	C	14: 65,293,784	F46L	probably damaging	Het
Glp1r	T	A	17: 30,924,557	L189H	probably damaging	Het
Gstp1	G	A	19: 4,036,695	T110I	possibly damaging	Het
Hbq1a	T	G	11: 32,300,715	S133A	probably benign	Het
Hhipl1	A	G	12: 108,311,689	E92G	probably damaging	Het
Il18r1	C	T	1: 40,487,089	T265M	probably damaging	Het
Lpp	T	C	16: 24,889,886	V447A	probably benign	Het
Mcm2	G	A	6: 88,893,008	R60C	probably damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Mmel1	C	T	4: 154,885,498		probably benign	Het
Myo5c	A	G	9: 75,263,001	E471G	probably damaging	Het
Obscn	A	G	11: 59,031,177	L317P	probably damaging	Het
Olfr983	A	T	9: 40,092,549	M139K	probably damaging	Het
Ptprt	T	C	2: 161,927,529	E472G	probably damaging	Het
Rap2a	G	T	14: 120,503,758	A158S	possibly damaging	Het
Rbm15	A	T	3: 107,330,677	S802T	probably benign	Het
Sec14l5	A	G	16: 5,178,599	I470V	possibly damaging	Het
Serpinb1a	T	C	13: 32,842,859	T367A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,387	W7R	probably damaging	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Taf5	A	C	19: 47,075,833	K405T	probably damaging	Het
Tbc1d19	T	C	5: 53,848,206		probably benign	Het
Trim58	T	C	11: 58,646,961		probably benign	Het
Tssk4	A	G	14: 55,651,695	N226S	probably damaging	Het
Uggt1	C	A	1: 36,210,059	E267*	probably null	Het
Zdhhc23	T	A	16: 43,974,170		probably benign	Het
Zfp407	G	A	18: 84,208,746	A2246V	probably damaging	Het
Zfp872	C	T	9: 22,200,454	R410*	probably null	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
R3053:Psg18	UTSW	7	18349193	missense	probably damaging	1.00
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
R9442:Psg18	UTSW	7	18349260	nonsense	probably null
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'- CCATAATCTGCCAGAAGATGTGC -3'

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

Posted On

2015-02-18