Mutagenetix > Incidental Mutation

Incidental Mutation 'R2327:Psg21'

245690

Institutional Source

Beutler Lab

Gene Symbol

Psg21

Ensembl Gene

ENSMUSG00000070796

Gene Name

pregnancy-specific glycoprotein 21

Synonyms

1600026N13Rik, 1600019C01Rik, 1600025N01Rik, cea8

MMRRC Submission

040318-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R2327 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18646736-18656725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18652453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 203 (T203A)

Ref Sequence

ENSEMBL: ENSMUSP00000138173 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094793] [ENSMUST00000182128]

AlphaFold

Q9DAV5

Predicted Effect

probably benign
Transcript: ENSMUST00000094793
AA Change: T203A

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092387
Gene: ENSMUSG00000070796
AA Change: T203A

Domain	Start	End	E-Value	Type
IG	39	138	3.04e-3	SMART
IG	159	260	7.25e-1	SMART
IG	276	375	1.25e-4	SMART
IGc2	393	457	1.47e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182128
AA Change: T203A

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

SMART Domains

Protein: ENSMUSP00000138173
Gene: ENSMUSG00000070796
AA Change: T203A

Domain	Start	End	E-Value	Type
IG	39	138	3.04e-3	SMART
IG	159	260	7.25e-1	SMART
IG	276	375	1.25e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182933

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 63,971,120		probably null	Het
Agbl4	T	G	4: 111,526,601	S218A	probably benign	Het
Apol11b	T	C	15: 77,637,953	E48G	probably damaging	Het
Atp4a	T	A	7: 30,720,241	N676K	probably benign	Het
Capn5	T	A	7: 98,126,367	S456C	probably benign	Het
Ccar1	T	C	10: 62,764,382	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,219,206	G283W	probably damaging	Het
Cd163l1	A	T	7: 140,223,977	N363Y	possibly damaging	Het
Cd69	A	G	6: 129,271,388	V45A	probably damaging	Het
Col3a1	G	T	1: 45,338,611		probably benign	Het
Cyb561a3	A	T	19: 10,586,802	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,538,953	I248L	probably benign	Het
Cyp2j13	T	C	4: 96,059,107	T236A	possibly damaging	Het
Efs	A	G	14: 54,917,504	V426A	probably benign	Het
Eme2	A	G	17: 24,894,183	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,705,528	K312*	probably null	Het
Fbxl12	A	G	9: 20,642,234	L19P	probably damaging	Het
Flg2	T	A	3: 93,203,606	Y980*	probably null	Het
Fscn2	T	A	11: 120,366,701	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,735,087	V242A	probably benign	Het
Galk2	A	G	2: 125,975,395	H368R	probably damaging	Het
Gm10184	C	A	17: 89,910,269	R16S	probably benign	Het
Gm12695	C	T	4: 96,769,656	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,098,591	S196T	probably benign	Het
Gpld1	A	T	13: 24,984,821	M773L	probably benign	Het
Haus8	A	G	8: 71,255,645		probably null	Het
Hirip3	A	G	7: 126,862,866	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,366,166	T92A	probably damaging	Het
Irgm2	A	G	11: 58,220,392	D303G	probably damaging	Het
Krtap5-2	T	G	7: 142,175,011	S311R	unknown	Het
Krtdap	T	A	7: 30,789,760		probably null	Het
Lce1g	G	T	3: 92,750,833	S56Y	unknown	Het
Lrrn1	G	A	6: 107,568,833	V531I	probably benign	Het
Mctp2	T	C	7: 72,211,610	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,464,045	D287A	probably damaging	Het
Mterf3	T	C	13: 66,928,194	T150A	probably damaging	Het
Mtus2	A	G	5: 148,077,915	N506S	probably benign	Het
Myh15	G	T	16: 49,142,950	V1085L	probably benign	Het
Myo9a	A	G	9: 59,779,765	N51S	probably benign	Het
Nlrc3	A	T	16: 3,953,440	L196Q	probably damaging	Het
Nlrp9c	T	A	7: 26,375,322	N816I	probably damaging	Het
Nsun2	T	C	13: 69,619,581	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,313,677	E339G	possibly damaging	Het
Olfr1062	A	T	2: 86,422,821	L285*	probably null	Het
Olfr1338	C	T	4: 118,754,134	V135I	probably benign	Het
Olfr623	A	G	7: 103,660,572	V226A	probably damaging	Het
Pik3ap1	A	G	19: 41,296,389	I619T	probably damaging	Het
Plk1	A	G	7: 122,159,895	D118G	probably benign	Het
Ppat	T	C	5: 76,922,467	D168G	possibly damaging	Het
Preb	T	C	5: 30,958,505	E198G	probably damaging	Het
Rbm17	A	G	2: 11,598,131	V54A	probably damaging	Het
Rgma	T	A	7: 73,417,826	D276E	probably damaging	Het
Ric8a	T	C	7: 140,859,558	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scarf1	A	C	11: 75,526,028	E765D	probably damaging	Het
Sec14l4	G	A	11: 4,040,041	M113I	probably benign	Het
Senp1	C	T	15: 98,082,284	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,951,304	K549N	probably benign	Het
Slc39a10	T	C	1: 46,835,996	S49G	probably damaging	Het
Spata13	T	C	14: 60,709,555	M684T	probably damaging	Het
Spns1	T	C	7: 126,370,786	T481A	probably damaging	Het
Stag1	A	G	9: 100,786,613	Y198C	possibly damaging	Het
Tgfbr1	T	A	4: 47,402,833	V210E	probably damaging	Het
Tnc	C	T	4: 63,975,238	E1604K	possibly damaging	Het
Tspan31	T	C	10: 127,068,496	D143G	probably benign	Het
Tspan5	T	A	3: 138,898,142	Y131*	probably null	Het
Ttc21a	A	G	9: 119,966,123	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,039,749	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,738,256	I700T	probably damaging	Het
Vps13c	A	C	9: 67,913,820	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het

Other mutations in Psg21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01571:Psg21	APN	7	18654825	missense	probably damaging	1.00
IGL02390:Psg21	APN	7	18652631	missense	probably benign	0.11
IGL02548:Psg21	APN	7	18655036	missense	possibly damaging	0.89
IGL03001:Psg21	APN	7	18652485	missense	probably benign	0.03
IGL03135:Psg21	APN	7	18654918	missense	probably benign	0.00
R0131:Psg21	UTSW	7	18654868	missense	probably benign	0.39
R0551:Psg21	UTSW	7	18652640	critical splice acceptor site	probably null
R1512:Psg21	UTSW	7	18656500	missense	probably benign	0.00
R1874:Psg21	UTSW	7	18650816	missense	probably benign	0.15
R1993:Psg21	UTSW	7	18654770	missense	probably benign	0.04
R3414:Psg21	UTSW	7	18652380	missense	probably damaging	1.00
R4422:Psg21	UTSW	7	18647332	missense	probably damaging	1.00
R5138:Psg21	UTSW	7	18656528	start codon destroyed	probably null	0.94
R5623:Psg21	UTSW	7	18655014	missense	probably damaging	1.00
R5686:Psg21	UTSW	7	18652258	intron	probably benign
R6166:Psg21	UTSW	7	18656739	unclassified	probably benign
R6177:Psg21	UTSW	7	18652354	missense	possibly damaging	0.64
R6190:Psg21	UTSW	7	18655001	missense	possibly damaging	0.61
R6210:Psg21	UTSW	7	18652345	missense	probably damaging	1.00
R6482:Psg21	UTSW	7	18654739	splice site	probably null
R6729:Psg21	UTSW	7	18652591	missense	probably damaging	1.00
R6866:Psg21	UTSW	7	18652284	missense	probably damaging	1.00
R6992:Psg21	UTSW	7	18654743	critical splice donor site	probably null
R7075:Psg21	UTSW	7	18654861	missense	probably damaging	1.00
R7081:Psg21	UTSW	7	18654849	nonsense	probably null
R7098:Psg21	UTSW	7	18652545	missense	probably damaging	1.00
R7582:Psg21	UTSW	7	18647203	makesense	probably null
R7588:Psg21	UTSW	7	18647209	missense	probably benign	0.00
R7607:Psg21	UTSW	7	18654783	missense	probably benign	0.02
R7830:Psg21	UTSW	7	18647298	missense	probably damaging	1.00
R7964:Psg21	UTSW	7	18647211	missense	probably benign	0.01
R8758:Psg21	UTSW	7	18650753	missense	probably damaging	1.00
R8972:Psg21	UTSW	7	18647368	missense	probably benign	0.03
R8988:Psg21	UTSW	7	18652464	missense	probably benign	0.00
R9119:Psg21	UTSW	7	18647484	missense	probably benign	0.14
R9446:Psg21	UTSW	7	18654940	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGTTACAGTGCTCCTGGTAG -3'
(R):5'- TCATTTCACCTGTGGGCGTC -3'

Sequencing Primer
(F):5'- TTACAGTGCTCCTGGTAGAAGCC -3'
(R):5'- ACCTGTGGGCGTCCTTCC -3'

Posted On

2014-10-30