Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:Ggnbp2'

38946

Institutional Source

Beutler Lab

Gene Symbol

Ggnbp2

Ensembl Gene

ENSMUSG00000020530

Gene Name

gametogenetin binding protein 2

Synonyms

DIF-3, Zfp403, D330017P12Rik

MMRRC Submission

038635-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R0433 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

84723187-84761643 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84727246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 530 (K530R)

Ref Sequence

ENSEMBL: ENSMUSP00000127584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018547] [ENSMUST00000100686] [ENSMUST00000108081] [ENSMUST00000154915] [ENSMUST00000168434] [ENSMUST00000170741] [ENSMUST00000172405]

AlphaFold

Q5SV77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018547
AA Change: K570R

PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530
AA Change: K570R

Domain	Start	End	E-Value	Type
low complexity region	179	185	N/A	INTRINSIC
coiled coil region	393	426	N/A	INTRINSIC
low complexity region	570	584	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100686
AA Change: K508R

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530
AA Change: K508R

Domain	Start	End	E-Value	Type
coiled coil region	351	388	N/A	INTRINSIC
low complexity region	508	522	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108081
AA Change: K530R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530
AA Change: K530R

Domain	Start	End	E-Value	Type
coiled coil region	353	386	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000132098
AA Change: K16R

SMART Domains

Protein: ENSMUSP00000129898
Gene: ENSMUSG00000020530
AA Change: K16R

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154915
AA Change: K528R

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530
AA Change: K528R

Domain	Start	End	E-Value	Type
coiled coil region	351	384	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168267

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168434
AA Change: K528R

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530
AA Change: K528R

Domain	Start	End	E-Value	Type
coiled coil region	351	384	N/A	INTRINSIC
low complexity region	528	542	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170741
AA Change: K99R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128109
Gene: ENSMUSG00000020530
AA Change: K99R

Domain	Start	End	E-Value	Type
low complexity region	99	113	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172405
AA Change: K530R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530
AA Change: K530R

Domain	Start	End	E-Value	Type
coiled coil region	353	386	N/A	INTRINSIC
low complexity region	530	544	N/A	INTRINSIC

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality throughout fetal growth and development associated with pallor and alterations in placental labyrinth vasculature morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
C7	G	T	15: 5,018,398 (GRCm39)	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		probably benign	Het

Other mutations in Ggnbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Ggnbp2	APN	11	84,731,230 (GRCm39)	missense	possibly damaging	0.49
IGL02095:Ggnbp2	APN	11	84,723,954 (GRCm39)	missense	probably damaging	1.00
IGL02366:Ggnbp2	APN	11	84,732,427 (GRCm39)	missense	probably damaging	1.00
IGL02548:Ggnbp2	APN	11	84,753,112 (GRCm39)	missense	possibly damaging	0.78
R0211:Ggnbp2	UTSW	11	84,731,139 (GRCm39)	missense	probably damaging	1.00
R0211:Ggnbp2	UTSW	11	84,731,139 (GRCm39)	missense	probably damaging	1.00
R0375:Ggnbp2	UTSW	11	84,727,200 (GRCm39)	nonsense	probably null
R0415:Ggnbp2	UTSW	11	84,724,051 (GRCm39)	splice site	probably benign
R0589:Ggnbp2	UTSW	11	84,727,277 (GRCm39)	missense	probably damaging	1.00
R0970:Ggnbp2	UTSW	11	84,753,138 (GRCm39)	missense	possibly damaging	0.83
R1413:Ggnbp2	UTSW	11	84,723,955 (GRCm39)	missense	probably damaging	1.00
R1912:Ggnbp2	UTSW	11	84,753,122 (GRCm39)	missense	probably benign	0.02
R1997:Ggnbp2	UTSW	11	84,751,387 (GRCm39)	missense	probably damaging	1.00
R2161:Ggnbp2	UTSW	11	84,725,259 (GRCm39)	missense	probably benign	0.08
R2220:Ggnbp2	UTSW	11	84,727,439 (GRCm39)	missense	possibly damaging	0.46
R2879:Ggnbp2	UTSW	11	84,723,797 (GRCm39)	splice site	probably null
R2941:Ggnbp2	UTSW	11	84,732,407 (GRCm39)	missense	probably damaging	1.00
R3726:Ggnbp2	UTSW	11	84,744,920 (GRCm39)	missense	possibly damaging	0.93
R4662:Ggnbp2	UTSW	11	84,753,072 (GRCm39)	missense	probably damaging	1.00
R4771:Ggnbp2	UTSW	11	84,725,314 (GRCm39)	missense	probably benign	0.00
R5212:Ggnbp2	UTSW	11	84,744,847 (GRCm39)	intron	probably benign
R5310:Ggnbp2	UTSW	11	84,760,794 (GRCm39)	start codon destroyed	probably null	1.00
R5479:Ggnbp2	UTSW	11	84,745,169 (GRCm39)	missense	probably benign
R5924:Ggnbp2	UTSW	11	84,749,363 (GRCm39)	missense	possibly damaging	0.61
R6212:Ggnbp2	UTSW	11	84,727,503 (GRCm39)	missense	possibly damaging	0.94
R6700:Ggnbp2	UTSW	11	84,730,931 (GRCm39)	missense	probably damaging	1.00
R6931:Ggnbp2	UTSW	11	84,723,993 (GRCm39)	missense	probably damaging	1.00
R7031:Ggnbp2	UTSW	11	84,751,467 (GRCm39)	missense	probably damaging	1.00
R7493:Ggnbp2	UTSW	11	84,744,899 (GRCm39)	missense	probably benign	0.21
R7694:Ggnbp2	UTSW	11	84,751,539 (GRCm39)	missense	possibly damaging	0.94
R7761:Ggnbp2	UTSW	11	84,730,803 (GRCm39)	splice site	probably null
R8257:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8355:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8419:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8511:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8512:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8532:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8534:Ggnbp2	UTSW	11	84,728,815 (GRCm39)	critical splice acceptor site	probably null
R8551:Ggnbp2	UTSW	11	84,732,351 (GRCm39)	nonsense	probably null
R8695:Ggnbp2	UTSW	11	84,760,767 (GRCm39)	missense	possibly damaging	0.81
R8705:Ggnbp2	UTSW	11	84,753,132 (GRCm39)	missense	possibly damaging	0.82
R8864:Ggnbp2	UTSW	11	84,730,902 (GRCm39)	missense	probably damaging	1.00
R9055:Ggnbp2	UTSW	11	84,732,448 (GRCm39)	missense	probably damaging	1.00
R9142:Ggnbp2	UTSW	11	84,730,886 (GRCm39)	missense	possibly damaging	0.96
R9324:Ggnbp2	UTSW	11	84,725,174 (GRCm39)	missense	probably damaging	1.00
R9523:Ggnbp2	UTSW	11	84,745,188 (GRCm39)	missense	probably benign	0.07
R9578:Ggnbp2	UTSW	11	84,744,989 (GRCm39)	missense	probably benign	0.22
Z1187:Ggnbp2	UTSW	11	84,727,478 (GRCm39)	missense	probably benign	0.04
Z1188:Ggnbp2	UTSW	11	84,727,478 (GRCm39)	missense	probably benign	0.04
Z1189:Ggnbp2	UTSW	11	84,727,478 (GRCm39)	missense	probably benign	0.04
Z1190:Ggnbp2	UTSW	11	84,727,478 (GRCm39)	missense	probably benign	0.04
Z1192:Ggnbp2	UTSW	11	84,727,478 (GRCm39)	missense	probably benign	0.04

Predicted Primers

Posted On

2013-05-23