Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Gal'

461611

Institutional Source

Beutler Lab

Gene Symbol

Gal

Ensembl Gene

ENSMUSG00000024907

Gene Name

galanin and GMAP prepropeptide

Synonyms

Galn

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3459915-3464544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3460100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 124 (S124P)

Ref Sequence

ENSEMBL: ENSMUSP00000025842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025840] [ENSMUST00000025842] [ENSMUST00000127142] [ENSMUST00000142193]

AlphaFold

P47212

Predicted Effect

probably benign
Transcript: ENSMUST00000025840

SMART Domains

Protein: ENSMUSP00000025840
Gene: ENSMUSG00000024905

Domain	Start	End	E-Value	Type
low complexity region	91	99	N/A	INTRINSIC
low complexity region	107	123	N/A	INTRINSIC
Blast:CXC	246	287	4e-13	BLAST
CXC	332	373	1.37e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000025842
AA Change: S124P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025842
Gene: ENSMUSG00000024907
AA Change: S124P

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
Galanin	20	124	3.41e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127142

SMART Domains

Protein: ENSMUSP00000122687
Gene: ENSMUSG00000024905

Domain	Start	End	E-Value	Type
Blast:CXC	67	107	1e-13	BLAST
CXC	152	193	1.37e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142193

SMART Domains

Protein: ENSMUSP00000114171
Gene: ENSMUSG00000024905

Domain	Start	End	E-Value	Type
Blast:CXC	67	107	1e-13	BLAST
CXC	152	193	1.37e-17	SMART

Meta Mutation Damage Score

0.1777

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

MGI Phenotype

FUNCTION: This gene encodes a neuroendocrine peptide that is principally produced by a subpopulation of lactotrophs in the pituitary gland. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Mice lacking the encoded protein fail to lactate sufficiently due to abnormalities in the expression of prolactin and lactotroph proliferation, exhibit attenuated chronic neuropathic pain and developmental deficits in the dorsal root ganglion neurons. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature proteins. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to alterations in neuroendocrine homeostasis, prolactin release, lactotroph number, mammary gland maturation, lactation, susceptibility to neuronal excitotoxicity and induced seizures, sensory neuron developmentand regeneration, and long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably damaging	Het

Other mutations in Gal

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Gal	APN	19	3,461,575 (GRCm39)	missense	probably benign	0.02
R0385:Gal	UTSW	19	3,461,171 (GRCm39)	missense	probably benign	0.13
R3605:Gal	UTSW	19	3,464,026 (GRCm39)	splice site	probably null
R4817:Gal	UTSW	19	3,461,126 (GRCm39)	splice site	probably null
R4911:Gal	UTSW	19	3,461,590 (GRCm39)	missense	probably benign	0.15
R5046:Gal	UTSW	19	3,461,167 (GRCm39)	missense	probably damaging	0.99
R6660:Gal	UTSW	19	3,460,108 (GRCm39)	missense	possibly damaging	0.52
R7658:Gal	UTSW	19	3,463,309 (GRCm39)	missense	probably damaging	1.00
X0065:Gal	UTSW	19	3,461,181 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- TACGCTGCAGCATAGAAGAACC -3'
(R):5'- ACAGTCCTTCAGATGCTGTC -3'

Sequencing Primer
(F):5'- AACAGTCCCAGATACTTGCTAG -3'
(R):5'- TTCAGATGCTGTCCCCAAATCAGG -3'

Posted On

2017-02-28