Mutagenetix > Incidental Mutation

Incidental Mutation 'R3963:Hrg'

312207

Institutional Source

Beutler Lab

Gene Symbol

Hrg

Ensembl Gene

ENSMUSG00000022877

Gene Name

histidine-rich glycoprotein

Synonyms

D18020, D16JH2

MMRRC Submission

040932-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R3963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22769822-22780406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22774825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 152 (V152I)

Ref Sequence

ENSEMBL: ENSMUSP00000023590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023590] [ENSMUST00000232422]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023590
AA Change: V152I

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023590
Gene: ENSMUSG00000022877
AA Change: V152I

Domain	Start	End	E-Value	Type
CY	22	133	8.98e-4	SMART
CY	146	251	1.3e-2	SMART
low complexity region	347	417	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232422
AA Change: V152I

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.1562

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display mild monocytosis, decreased bleeding time, faster clot lysis, and abnormal blood coagulation; however, wound healing is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,504,443 (GRCm39)	D59G	probably benign	Het
Ank2	A	T	3: 126,728,245 (GRCm39)	S783T	probably benign	Het
Arfgef3	T	C	10: 18,468,025 (GRCm39)	D1725G	probably damaging	Het
B3gnt5	A	G	16: 19,587,798 (GRCm39)	S6G	probably benign	Het
Btbd8	G	A	5: 107,655,222 (GRCm39)	C1007Y	probably damaging	Het
Ccdc82	C	A	9: 13,252,011 (GRCm39)	T101K	possibly damaging	Het
Ccdc85a	A	C	11: 28,526,396 (GRCm39)	M376R	probably benign	Het
Cd200r1	T	A	16: 44,613,158 (GRCm39)	C255S	probably benign	Het
Cdc23	T	C	18: 34,779,972 (GRCm39)	M119V	probably benign	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Clptm1	C	T	7: 19,372,121 (GRCm39)	W238*	probably null	Het
Cr2	A	G	1: 194,842,047 (GRCm39)	V302A	probably damaging	Het
Cyp4a31	A	G	4: 115,431,969 (GRCm39)		probably benign	Het
Dennd4a	T	A	9: 64,769,613 (GRCm39)	I440N	probably damaging	Het
Dsc2	C	T	18: 20,184,284 (GRCm39)	V35I	probably damaging	Het
Dyrk1a	T	A	16: 94,464,605 (GRCm39)	M71K	probably benign	Het
Exoc3l2	G	A	7: 19,229,181 (GRCm39)	G200S	probably benign	Het
Fhip2a	T	C	19: 57,361,442 (GRCm39)	L122P	possibly damaging	Het
Fkbp15	A	T	4: 62,258,914 (GRCm39)	I114N	probably damaging	Het
Fpr-rs6	G	A	17: 20,402,479 (GRCm39)	P294L	probably damaging	Het
Frmd6	A	G	12: 70,940,638 (GRCm39)	T428A	probably benign	Het
G6pd2	T	A	5: 61,966,228 (GRCm39)	M1K	probably null	Het
Gdf3	C	T	6: 122,583,717 (GRCm39)	V217I	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf3c1	T	C	7: 125,292,397 (GRCm39)		probably null	Het
Itpkc	T	C	7: 26,926,934 (GRCm39)	T327A	probably damaging	Het
Jade1	T	C	3: 41,555,845 (GRCm39)	V304A	probably damaging	Het
Leo1	C	A	9: 75,357,762 (GRCm39)		probably benign	Het
Lrrc7	A	T	3: 157,866,042 (GRCm39)	L1233Q	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Matn2	C	A	15: 34,388,937 (GRCm39)	Y342*	probably null	Het
Minar1	G	A	9: 89,483,963 (GRCm39)	T478I	probably damaging	Het
Mlh3	T	C	12: 85,315,454 (GRCm39)	H244R	possibly damaging	Het
Mmaa	A	T	8: 79,994,843 (GRCm39)	V321E	probably damaging	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Oas1e	A	G	5: 120,932,205 (GRCm39)	V146A	probably damaging	Het
Or52z1	G	T	7: 103,437,241 (GRCm39)	T81K	probably benign	Het
Plcxd2	T	C	16: 45,800,864 (GRCm39)	K120R	probably damaging	Het
Prex2	G	T	1: 11,180,581 (GRCm39)	C382F	possibly damaging	Het
Psg29	T	A	7: 16,942,510 (GRCm39)	H170Q	probably benign	Het
Ptprk	A	G	10: 28,427,661 (GRCm39)	T747A	probably damaging	Het
Qki	G	A	17: 10,435,394 (GRCm39)		probably benign	Het
Rpusd2	A	G	2: 118,869,085 (GRCm39)	T503A	probably benign	Het
Rtn3	T	C	19: 7,435,510 (GRCm39)	S142G	probably damaging	Het
Slco1a5	C	T	6: 142,194,370 (GRCm39)		probably null	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Srsf3	C	T	17: 29,255,430 (GRCm39)		probably benign	Het
Tmem267	A	T	13: 119,629,175 (GRCm39)		probably null	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tnfaip8	C	A	18: 50,223,653 (GRCm39)	H154N	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Ttf1	A	G	2: 28,954,816 (GRCm39)	E60G	possibly damaging	Het
Ttf2	T	C	3: 100,849,136 (GRCm39)		probably benign	Het
Tubg2	T	C	11: 101,051,224 (GRCm39)		probably null	Het
Ubap1l	C	T	9: 65,276,477 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,360,750 (GRCm39)	R26*	probably null	Het
Vmn1r222	A	G	13: 23,417,102 (GRCm39)	V37A	probably benign	Het
Vmn2r4	T	A	3: 64,322,572 (GRCm39)	N49I	probably damaging	Het
Zfp979	A	T	4: 147,697,588 (GRCm39)	C374S	probably benign	Het

Other mutations in Hrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01150:Hrg	APN	16	22,777,909 (GRCm39)	critical splice acceptor site	probably null
IGL02795:Hrg	APN	16	22,776,303 (GRCm39)	unclassified	probably benign
R0042:Hrg	UTSW	16	22,779,886 (GRCm39)	unclassified	probably benign
R0184:Hrg	UTSW	16	22,772,521 (GRCm39)	critical splice donor site	probably null
R1147:Hrg	UTSW	16	22,779,754 (GRCm39)	missense	probably damaging	0.99
R1147:Hrg	UTSW	16	22,779,754 (GRCm39)	missense	probably damaging	0.99
R1733:Hrg	UTSW	16	22,769,997 (GRCm39)	missense	probably damaging	1.00
R1828:Hrg	UTSW	16	22,774,853 (GRCm39)	missense	probably damaging	1.00
R1919:Hrg	UTSW	16	22,773,207 (GRCm39)	missense	probably damaging	1.00
R2104:Hrg	UTSW	16	22,774,949 (GRCm39)	missense	probably benign	0.09
R2281:Hrg	UTSW	16	22,780,059 (GRCm39)	unclassified	probably benign
R2447:Hrg	UTSW	16	22,779,898 (GRCm39)	unclassified	probably benign
R3962:Hrg	UTSW	16	22,774,825 (GRCm39)	missense	possibly damaging	0.85
R4571:Hrg	UTSW	16	22,779,972 (GRCm39)	unclassified	probably benign
R4903:Hrg	UTSW	16	22,779,901 (GRCm39)	unclassified	probably benign
R4904:Hrg	UTSW	16	22,770,000 (GRCm39)	missense	probably benign	0.03
R5236:Hrg	UTSW	16	22,780,263 (GRCm39)	unclassified	probably benign
R6020:Hrg	UTSW	16	22,773,268 (GRCm39)	missense	probably damaging	1.00
R6054:Hrg	UTSW	16	22,772,412 (GRCm39)	missense	probably benign	0.05
R6207:Hrg	UTSW	16	22,773,288 (GRCm39)	critical splice donor site	probably null
R6374:Hrg	UTSW	16	22,779,742 (GRCm39)	missense	probably damaging	0.98
R7516:Hrg	UTSW	16	22,780,048 (GRCm39)	missense	unknown
R7606:Hrg	UTSW	16	22,769,873 (GRCm39)	start codon destroyed	probably null	0.01
R8190:Hrg	UTSW	16	22,779,793 (GRCm39)	missense	unknown
R8349:Hrg	UTSW	16	22,780,286 (GRCm39)	missense	unknown
R8449:Hrg	UTSW	16	22,780,286 (GRCm39)	missense	unknown
R8973:Hrg	UTSW	16	22,777,968 (GRCm39)	missense	probably benign	0.22
R8998:Hrg	UTSW	16	22,772,455 (GRCm39)	missense	probably damaging	0.99
R9334:Hrg	UTSW	16	22,780,061 (GRCm39)	missense	unknown
Z1177:Hrg	UTSW	16	22,772,462 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGCCTCGCTGATTGATC -3'
(R):5'- TGTACAGTGTACAGGGCTAGG -3'

Sequencing Primer
(F):5'- GCCTCGCTGATTGATCTTGACAAG -3'
(R):5'- GCGCTCAGCTCACCCCC -3'

Posted On

2015-04-29