Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Psg16'

381086

Institutional Source

Beutler Lab

Gene Symbol

Psg16

Ensembl Gene

ENSMUSG00000066760

Gene Name

pregnancy specific glycoprotein 16

Synonyms

bCEA, Cea11

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17074040-17133450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17095106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 205 (R205H)

Ref Sequence

ENSEMBL: ENSMUSP00000113025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071399] [ENSMUST00000118367] [ENSMUST00000152671]

AlphaFold

Q8K0U8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071399
AA Change: R205H

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071348
Gene: ENSMUSG00000066760
AA Change: R205H

Domain	Start	End	E-Value	Type
IG_like	6	52	1.42e2	SMART
IG	71	172	1.21e-2	SMART
IG	191	292	2.56e-1	SMART
IG_like	302	395	5.13e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118367
AA Change: R205H

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113025
Gene: ENSMUSG00000066760
AA Change: R205H

Domain	Start	End	E-Value	Type
IG_like	6	52	1.42e2	SMART
IG	71	172	1.21e-2	SMART
IG	191	292	2.56e-1	SMART
IGc2	308	372	3.56e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131153

Predicted Effect

probably benign
Transcript: ENSMUST00000152671

SMART Domains

Protein: ENSMUSP00000118977
Gene: ENSMUSG00000066760

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
IG	46	143	4.29e-3	SMART
IG	162	261	2.94e-1	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,574,042		noncoding transcript	Het
Abcd3	A	T	3: 121,768,746		probably null	Het
Adamts12	C	T	15: 11,259,022	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,678,005	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,630,851	Q842L	probably benign	Het
Aurka	A	T	2: 172,370,406	V17E	probably benign	Het
Ccdc144b	G	A	3: 36,035,338	L146F	probably damaging	Het
Cdh24	C	T	14: 54,633,516	V132I	probably benign	Het
Cep57l1	T	C	10: 41,745,914	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,395		probably null	Het
Col10a1	T	C	10: 34,395,124	I364T	probably benign	Het
Dpp6	G	A	5: 27,049,787	A67T	probably benign	Het
Dym	T	A	18: 75,243,286	V583E	probably damaging	Het
Efcab5	T	G	11: 77,103,383	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,239,169	I78L	possibly damaging	Het
Epha1	C	A	6: 42,364,599	A469S	probably benign	Het
Fam135a	T	C	1: 24,030,000	D596G	probably benign	Het
Filip1	T	C	9: 79,819,747	N530S	probably benign	Het
Grhl2	A	G	15: 37,360,802	N610S	probably benign	Het
Haus6	T	C	4: 86,595,433	I331V	probably benign	Het
Ints2	G	T	11: 86,212,653	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,353,235	V445A	probably benign	Het
Itga9	C	A	9: 118,807,249	D82E	probably damaging	Het
Jam2	G	A	16: 84,822,862		probably benign	Het
Klhl32	T	A	4: 24,709,030	I112F	probably damaging	Het
Lepr	A	G	4: 101,815,117	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888	L239F	probably damaging	Het
Lzic	T	A	4: 149,488,128		probably null	Het
Mxra8	T	A	4: 155,842,661	F351I	probably damaging	Het
Naa40	A	G	19: 7,229,982	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,238,654	S733F	probably damaging	Het
Olfr183	A	C	16: 59,000,219	Y178S	probably damaging	Het
Olfr259	A	G	2: 87,108,183	F68S	possibly damaging	Het
Olfr686	A	G	7: 105,204,025	I106T	probably damaging	Het
Olr1	T	C	6: 129,500,081	T74A	probably damaging	Het
Pgam5	A	T	5: 110,265,825	V130D	probably damaging	Het
Pop4	A	G	7: 38,266,149	C115R	probably damaging	Het
Prpf18	A	T	2: 4,624,537		probably null	Het
Ptgr1	C	A	4: 58,981,879	A53S	probably benign	Het
Shank2	A	G	7: 144,411,271	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 83,029,519		noncoding transcript	Het
Sox8	G	A	17: 25,570,356	A56V	probably benign	Het
Ssr3	A	G	3: 65,387,754	S113P	probably damaging	Het
Stx16	T	C	2: 174,096,928	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,528,489	N60K	probably benign	Het
Thada	T	C	17: 84,444,226	T441A	probably benign	Het
Trf	G	T	9: 103,227,875		probably benign	Het
Vamp2	T	A	11: 69,088,662		probably benign	Het
Vmn2r105	A	T	17: 20,228,018	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,091,678	Y340N	probably damaging	Het
Wasf2	C	A	4: 133,195,859	D493E	unknown	Het
Wdfy4	T	C	14: 33,047,256	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,746,373	I528N	probably damaging	Het
Zfp703	T	A	8: 26,978,851	V181E	possibly damaging	Het

Other mutations in Psg16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01993:Psg16	APN	7	17093706	missense	probably benign	0.08
IGL02258:Psg16	APN	7	17095292	missense	probably damaging	1.00
R0379:Psg16	UTSW	7	17130658	missense	probably benign	0.09
R0389:Psg16	UTSW	7	17095163	missense	probably benign
R0443:Psg16	UTSW	7	17095163	missense	probably benign
R1231:Psg16	UTSW	7	17095305	nonsense	probably null
R1594:Psg16	UTSW	7	17093823	missense	probably damaging	1.00
R2064:Psg16	UTSW	7	17093748	missense	possibly damaging	0.91
R2118:Psg16	UTSW	7	17090623	missense	probably benign	0.33
R3806:Psg16	UTSW	7	17090684	missense	probably benign	0.24
R4397:Psg16	UTSW	7	17090698	missense	possibly damaging	0.68
R4583:Psg16	UTSW	7	17095172	missense	probably benign	0.01
R4685:Psg16	UTSW	7	17090534	missense	probably benign	0.00
R5310:Psg16	UTSW	7	17090635	missense	probably damaging	0.99
R6106:Psg16	UTSW	7	17095166	missense	possibly damaging	0.73
R6320:Psg16	UTSW	7	17088187	missense	probably damaging	1.00
R6702:Psg16	UTSW	7	17090396	missense	probably damaging	1.00
R6703:Psg16	UTSW	7	17090396	missense	probably damaging	1.00
R7329:Psg16	UTSW	7	17090686	missense	possibly damaging	0.86
R7679:Psg16	UTSW	7	17093760	missense	probably damaging	1.00
R8292:Psg16	UTSW	7	17093776	missense	probably damaging	0.99
R8372:Psg16	UTSW	7	17095315	missense	probably benign	0.10
R8491:Psg16	UTSW	7	17090512	missense	probably damaging	1.00
R8796:Psg16	UTSW	7	17093889	missense	possibly damaging	0.90
R9131:Psg16	UTSW	7	17098099	missense	probably benign	0.00
R9437:Psg16	UTSW	7	17093790	missense	probably damaging	1.00
R9659:Psg16	UTSW	7	17090599	missense	possibly damaging	0.55
R9746:Psg16	UTSW	7	17098161	missense	probably benign	0.02
R9788:Psg16	UTSW	7	17090599	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TAGGATAGACACACCCCTGC -3'
(R):5'- TTCTCAGTGACATCCTGGAGC -3'

Sequencing Primer
(F):5'- AAGAATTCGTCTGCTCAGGATGC -3'
(R):5'- CAGGAGAGATCCATTGGTGTACACTC -3'

Posted On

2016-04-15