Mutagenetix > Incidental Mutations

Incidental Mutation 'R2656:Gpatch2l'

252787

Institutional Source

Beutler Lab

Gene Symbol

Gpatch2l

Ensembl Gene

ENSMUSG00000021254

Gene Name

G patch domain containing 2 like

Synonyms

1700020O03Rik

MMRRC Submission

040431-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86241858-86291784 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86288810 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 428 (D428E)

Ref Sequence

ENSEMBL: ENSMUSP00000152284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071106] [ENSMUST00000221368]

Predicted Effect

unknown
Transcript: ENSMUST00000071106
AA Change: C397S

SMART Domains

Protein: ENSMUSP00000065858
Gene: ENSMUSG00000021254
AA Change: C397S

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
low complexity region	127	135	N/A	INTRINSIC
low complexity region	219	232	N/A	INTRINSIC
low complexity region	413	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181495

Predicted Effect

probably damaging
Transcript: ENSMUST00000221368
AA Change: D428E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	G	5: 8,117,696	C655R	probably damaging	Het
Adgrf3	A	T	5: 30,196,438	V864D	possibly damaging	Het
Angptl3	A	G	4: 99,037,964	I444V	probably benign	Het
Atp8b2	C	T	3: 89,941,758	A1090T	probably benign	Het
BC005561	A	G	5: 104,519,315	I568V	probably benign	Het
Bcl2l2	C	T	14: 54,885,432	R47C	probably benign	Het
Ces2a	G	A	8: 104,736,134	M118I	probably benign	Het
Cyp4a29	T	G	4: 115,249,724	L193V	possibly damaging	Het
Dpp8	A	G	9: 65,080,804	Y877C	probably damaging	Het
Enpp6	C	T	8: 47,082,418	R33*	probably null	Het
Fsip2	G	A	2: 82,979,045	D1903N	possibly damaging	Het
Ggt1	T	A	10: 75,581,385	Y5*	probably null	Het
Gm14412	A	T	2: 177,315,200	C301S	unknown	Het
Grin2b	C	T	6: 135,733,429	G1040S	probably damaging	Het
Has2	T	C	15: 56,681,828	D126G	possibly damaging	Het
Itgam	T	G	7: 128,116,815	L1120R	probably null	Het
Kank4	T	C	4: 98,778,957	N418D	probably damaging	Het
Kcnk3	T	C	5: 30,622,671	V355A	possibly damaging	Het
Lonrf2	C	T	1: 38,815,960		probably null	Het
Lrp1b	A	T	2: 41,511,581	C240S	probably damaging	Het
Mapk8ip3	T	G	17: 24,912,807	E386A	probably damaging	Het
Mtmr14	A	G	6: 113,240,366	I80V	probably benign	Het
Nav2	A	C	7: 49,545,942	D961A	probably damaging	Het
Nmt2	A	G	2: 3,307,013	D107G	probably benign	Het
Nsd1	A	G	13: 55,246,868	K761E	probably damaging	Het
Ogdh	A	G	11: 6,348,678	T641A	probably benign	Het
Ogdhl	T	G	14: 32,332,826	F244V	possibly damaging	Het
Olfr1447	A	G	19: 12,901,666	I38T	probably benign	Het
Olfr1454	A	T	19: 13,063,984	H191L	probably benign	Het
Olfr639	G	A	7: 104,011,865	S279L	probably damaging	Het
Olfr699	T	A	7: 106,790,513	T163S	probably damaging	Het
Pfpl	T	C	19: 12,430,236	I617T	probably benign	Het
Ppfia2	T	G	10: 106,865,407		probably null	Het
Prickle1	T	C	15: 93,503,370	E411G	probably benign	Het
Prpsap2	C	A	11: 61,730,225	M343I	probably benign	Het
Prpsap2	A	G	11: 61,752,891	V72A	probably benign	Het
Ranbp17	A	T	11: 33,243,122	D977E	probably benign	Het
Rin1	T	C	19: 5,052,176	S238P	probably damaging	Het
Scap	C	T	9: 110,374,019	R254W	probably damaging	Het
Scn3a	T	C	2: 65,526,518	D194G	probably damaging	Het
Shisa7	T	C	7: 4,829,819	H481R	possibly damaging	Het
Slc6a6	T	C	6: 91,741,048	Y323H	probably damaging	Het
Tlr9	T	C	9: 106,223,941	S144P	probably benign	Het
Tmem69	T	A	4: 116,553,590	K61M	probably damaging	Het
Ttc21a	A	G	9: 119,941,265	D134G	probably damaging	Het
Ttn	A	G	2: 76,894,270		probably benign	Het
Vwf	A	G	6: 125,555,361	T26A	probably benign	Het
Zbtb16	A	T	9: 48,832,688	I108N	probably damaging	Het
Zc3h7b	T	A	15: 81,780,430	Y497N	probably damaging	Het
Zfp652	A	G	11: 95,749,329	S27G	probably damaging	Het
Zfp808	A	G	13: 62,172,852	T632A	possibly damaging	Het
Znhit6	T	C	3: 145,578,169		probably null	Het

Other mutations in Gpatch2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02335:Gpatch2l	APN	12	86256937	splice site	probably benign
IGL02458:Gpatch2l	APN	12	86288961	utr 3 prime	probably benign
IGL03131:Gpatch2l	APN	12	86281511	missense	probably benign	0.00
R0546:Gpatch2l	UTSW	12	86288848	makesense	probably null
R1349:Gpatch2l	UTSW	12	86260709	missense	possibly damaging	0.94
R1368:Gpatch2l	UTSW	12	86260665	missense	possibly damaging	0.73
R1600:Gpatch2l	UTSW	12	86256934	critical splice donor site	probably null
R1701:Gpatch2l	UTSW	12	86288952	missense	probably benign	0.00
R3149:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3150:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3176:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3177:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3276:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R3277:Gpatch2l	UTSW	12	86244315	missense	possibly damaging	0.76
R4342:Gpatch2l	UTSW	12	86260679	missense	probably benign	0.00
R5161:Gpatch2l	UTSW	12	86267176	missense	probably benign	0.17
R5712:Gpatch2l	UTSW	12	86244480	missense	probably damaging	1.00
R6343:Gpatch2l	UTSW	12	86260605	nonsense	probably null
R6899:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6910:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6911:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6912:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6917:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6930:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6994:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6995:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6996:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6998:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R6999:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7000:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7001:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7002:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7003:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7010:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7011:Gpatch2l	UTSW	12	86244184	missense	probably damaging	1.00
R7203:Gpatch2l	UTSW	12	86288937	missense	probably benign	0.40
R7239:Gpatch2l	UTSW	12	86260575	critical splice acceptor site	probably null
R7327:Gpatch2l	UTSW	12	86256872	missense	probably damaging	1.00
R7419:Gpatch2l	UTSW	12	86265251	critical splice donor site	probably null
R8231:Gpatch2l	UTSW	12	86244189	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAAGATTAGCCACCGCCG -3'
(R):5'- AGTTTCAACACCCATTGGTTCC -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- ACCCATTGGTTCCTGGGCTAG -3'

Posted On

2014-12-04