Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Ghrl'

378954

Institutional Source

Beutler Lab

Gene Symbol

Ghrl

Ensembl Gene

ENSMUSG00000064177

Gene Name

ghrelin

Synonyms

2210006E23Rik, Ghr, MTLRP, m46, MTLRPAP

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R4925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113693080-113696841 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113693218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000145514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064993] [ENSMUST00000203363] [ENSMUST00000203588] [ENSMUST00000203770] [ENSMUST00000204163] [ENSMUST00000204533]

AlphaFold

Q9EQX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000064993
AA Change: D116G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069567
Gene: ENSMUSG00000064177
AA Change: D116G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Motilin_ghrelin	24	51	2.7e-15	PFAM
Pfam:Motilin_assoc	57	115	1.1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182250

Predicted Effect

unknown
Transcript: ENSMUST00000203363
AA Change: T80A

SMART Domains

Protein: ENSMUSP00000145366
Gene: ENSMUSG00000064177
AA Change: T80A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Motilin_ghrelin	24	51	1.4e-15	PFAM
low complexity region	66	73	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203588
AA Change: D77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145514
Gene: ENSMUSG00000064177
AA Change: D77G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Motilin_assoc	29	76	1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203699

Predicted Effect

probably damaging
Transcript: ENSMUST00000203770
AA Change: D116G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145281
Gene: ENSMUSG00000064177
AA Change: D116G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Motilin_ghrelin	24	51	2.7e-15	PFAM
Pfam:Motilin_assoc	57	115	1.1e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204163
AA Change: D115G

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

SMART Domains

Protein: ENSMUSP00000145096
Gene: ENSMUSG00000064177
AA Change: D115G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Motilin_ghrelin	24	50	4e-14	PFAM
Pfam:Motilin_assoc	56	114	1.1e-36	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000204533
AA Change: D53G

SMART Domains

Protein: ENSMUSP00000145046
Gene: ENSMUSG00000064177
AA Change: D53G

Domain	Start	End	E-Value	Type
Pfam:Motilin_assoc	3	52	2.9e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204191

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a preproprotein that undergoes proteolytic processing to yield two bioactive peptides, ghrelin and obestatin. The hormone ghrelin plays a role in enhancing appetite and has numerous other biological functions that include stimulating the secretion of growth hormone (somatotropin) from the anterior pituitary gland. Obestatin is thought to be a hormone that functions in decreasing appetite. Mice lacking the encoded protein develop normally and exhibit no gross anatomical abnormalities. This gene encodes distinct isoforms, some or all of which may undergo similar proteolytic processing. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for most disruptions in this gene display no phenotypic abnormalities on a regular diet and increased utilization of fat as an energy substrate on a high fat diet. Mice homozygous for one allele display age-dependent changes in stimulated food intake and metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,316,540 (GRCm39)	C173*	probably null	Het
3425401B19Rik	T	A	14: 32,385,137 (GRCm39)	H276L	possibly damaging	Het
Adam21	T	G	12: 81,607,163 (GRCm39)	M200L	probably benign	Het
Adamts3	A	T	5: 89,832,182 (GRCm39)	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,251,507 (GRCm39)		probably null	Het
Atp8b2	A	G	3: 89,853,930 (GRCm39)		probably null	Het
Brd8	T	C	18: 34,740,388 (GRCm39)	T552A	probably benign	Het
Btaf1	A	G	19: 36,988,733 (GRCm39)	S1826G	probably benign	Het
Ccdc163	A	G	4: 116,568,528 (GRCm39)	E77G	possibly damaging	Het
Ces2g	A	G	8: 105,691,526 (GRCm39)	R194G	probably benign	Het
Cip2a	T	C	16: 48,836,726 (GRCm39)		probably null	Het
Cln8	A	G	8: 14,945,004 (GRCm39)	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,582,077 (GRCm39)	L1391F	probably damaging	Het
Col16a1	G	A	4: 129,947,969 (GRCm39)	D230N	probably damaging	Het
Crhbp	C	A	13: 95,580,318 (GRCm39)	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,389,644 (GRCm39)	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,353,133 (GRCm39)	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,733,149 (GRCm39)	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 44,136,634 (GRCm39)	D219E	probably damaging	Het
Fgfr2	A	T	7: 129,787,002 (GRCm39)	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,360,840 (GRCm39)	V363M	probably damaging	Het
Foxb1	T	A	9: 69,667,437 (GRCm39)	E31V	probably damaging	Het
Galnt9	T	C	5: 110,692,605 (GRCm39)	V13A	possibly damaging	Het
Gpr85	A	G	6: 13,835,977 (GRCm39)	V309A	probably benign	Het
Greb1	T	C	12: 16,731,472 (GRCm39)	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447 (GRCm39)	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,487,687 (GRCm39)	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,600,169 (GRCm39)	I399L	probably benign	Het
Hectd4	T	C	5: 121,460,753 (GRCm39)	S911P	possibly damaging	Het
Igkc	A	T	6: 70,703,520 (GRCm39)	K34*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqgap1	T	A	7: 80,415,065 (GRCm39)	I149F	probably damaging	Het
Lama1	C	T	17: 68,101,309 (GRCm39)	A1934V	probably benign	Het
Lrp1	C	A	10: 127,410,944 (GRCm39)	E1415*	probably null	Het
Lypd8l	T	A	11: 58,501,513 (GRCm39)	T157S	probably damaging	Het
Macf1	A	C	4: 123,420,445 (GRCm39)	C270G	probably benign	Het
Marveld3	A	G	8: 110,674,943 (GRCm39)	V291A	probably benign	Het
Med23	T	C	10: 24,786,645 (GRCm39)	F917S	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Ncan	A	T	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Or1e23	A	T	11: 73,407,998 (GRCm39)	I9N	possibly damaging	Het
Or4x6	T	A	2: 89,949,121 (GRCm39)	T274S	probably damaging	Het
Or52h2	T	C	7: 103,839,387 (GRCm39)	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,672,467 (GRCm39)	W34R	probably damaging	Het
Plekha7	A	G	7: 115,757,363 (GRCm39)	F529S	probably damaging	Het
Potefam1	T	C	2: 111,048,961 (GRCm39)	K273E	probably benign	Het
Ppl	T	A	16: 4,922,846 (GRCm39)	D215V	probably damaging	Het
Pramel15	A	T	4: 144,104,502 (GRCm39)	M1K	probably null	Het
Prdm1	T	A	10: 44,316,165 (GRCm39)	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,329,570 (GRCm39)	D124V	probably damaging	Het
Ptprc	C	A	1: 138,027,235 (GRCm39)	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,303,505 (GRCm39)	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,688,023 (GRCm39)	Y657F	probably benign	Het
Rrn3	T	C	16: 13,617,836 (GRCm39)	C360R	probably damaging	Het
Scarb1	T	C	5: 125,374,363 (GRCm39)	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,443,219 (GRCm39)	M6K	probably benign	Het
Slco4a1	T	C	2: 180,113,849 (GRCm39)	Y429H	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Taar3	T	A	10: 23,826,441 (GRCm39)	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,703,108 (GRCm39)	N285K	probably benign	Het
Tcstv7b	A	G	13: 120,702,384 (GRCm39)	Y60C	probably damaging	Het
Tnni2	A	T	7: 141,996,430 (GRCm39)	E4V	probably benign	Het
Tnpo2	A	T	8: 85,776,654 (GRCm39)	I454F	probably damaging	Het
Tpr	T	G	1: 150,308,316 (GRCm39)	H1690Q	probably benign	Het
Trav18	T	C	14: 54,068,577 (GRCm39)	S6P	probably benign	Het
Trf	T	C	9: 103,096,445 (GRCm39)	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,044,892 (GRCm39)	M1V	probably null	Het
Wdr64	T	C	1: 175,552,268 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,943 (GRCm39)	S222G	probably benign	Het

Other mutations in Ghrl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
indisputable	UTSW	6	113,696,344 (GRCm39)	missense	probably damaging	1.00
R0128:Ghrl	UTSW	6	113,694,129 (GRCm39)	splice site	probably benign
R0391:Ghrl	UTSW	6	113,696,299 (GRCm39)	missense	probably damaging	0.98
R7046:Ghrl	UTSW	6	113,696,344 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTCACTGCCTTGCTGAG -3'
(R):5'- GGGACACAAGGACACTCATC -3'

Sequencing Primer
(F):5'- CTCATGGGTCATAGTCATACAAAGAC -3'
(R):5'- TCATCCAAGAGCACACTCAAATG -3'

Posted On

2016-04-15